Variant report

Variant	esv3409289
Chromosome Location	chr14:71107224-71110172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:488)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:71109226-71109743	GM12878	blood:	n/a	n/a
2	ATF2	chr14:71107518-71108251	GM12878	blood:	n/a	n/a
3	BACH1	chr14:71108404-71108550	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr14:71107473-71108266	GM12878	blood:	n/a	n/a
5	BCLAF1	chr14:71109317-71109957	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:71107714-71108238	GM12878	blood:	n/a	n/a
7	CEBPB	chr14:71108244-71108258	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr14:71107960-71108648	GM12878	blood:	n/a	chr14:71108359-71108369
9	CHD1	chr14:71108999-71110697	GM12878	blood:	n/a	n/a
10	CHD1	chr14:71107405-71107760	GM12878	blood:	n/a	n/a
11	CHD1	chr14:71108979-71110082	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr14:71109049-71110062	GM12878	blood:	n/a	n/a
13	CHD2	chr14:71107597-71108690	GM12878	blood:	n/a	chr14:71108359-71108369
14	CHD2	chr14:71108063-71108770	Hela-S3	cervix:	n/a	chr14:71108359-71108369
15	CHD2	chr14:71109935-71110006	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr14:71107809-71108134	A549	lung:	n/a	n/a
17	CTCF	chr14:71109349-71109392	GM12878	blood:	n/a	n/a
18	CTCF	chr14:71107860-71108010	GM12871	blood:	n/a	n/a
19	CTCF	chr14:71107683-71107777	GM12878	blood:	n/a	n/a
20	CTCF	chr14:71107664-71107779	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:71108060-71108074	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:71107992-71108083	GM12892	blood:	n/a	n/a
23	CTCF	chr14:71107760-71107910	GM06990	blood:	n/a	n/a
24	CTCF	chr14:71107560-71107710	GM12875	blood:	n/a	n/a
25	CTCF	chr14:71109300-71109450	GM12864	blood:	n/a	n/a
26	CTCF	chr14:71107700-71107850	GM12871	blood:	n/a	n/a
27	CTCF	chr14:71107740-71107890	GM12870	blood:	n/a	n/a
28	CTCF	chr14:71107625-71107867	GM12892	blood:	n/a	n/a
29	CTCF	chr14:71109076-71109088	GM12891	blood:	n/a	n/a
30	CTCF	chr14:71107708-71107760	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:71107640-71107790	HEK293	kidney:	n/a	n/a
32	CTCF	chr14:71107660-71107910	GM12867	blood:	n/a	n/a
33	CTCF	chr14:71107698-71107780	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:71107922-71108096	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:71107771-71107776	GM10266	blood:	n/a	n/a
36	CTCF	chr14:71107840-71107990	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr14:71107720-71107870	GM12865	blood:	n/a	n/a
38	CTCF	chr14:71107680-71107830	GM12868	blood:	n/a	n/a
39	CTCF	chr14:71107800-71107950	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr14:71107600-71107750	GM12871	blood:	n/a	n/a
41	CTCF	chr14:71107640-71107790	Caco-2	colon:	n/a	n/a
42	CTCF	chr14:71107680-71107830	GM12878	blood:	n/a	n/a
43	CTCF	chr14:71107700-71107850	HepG2	liver:	n/a	n/a
44	CTCF	chr14:71107680-71107830	GM12872	blood:	n/a	n/a
45	CTCF	chr14:71108960-71109110	GM12864	blood:	n/a	n/a
46	CTCF	chr14:71107950-71107959	GM19240	blood:	n/a	n/a
47	CTCF	chr14:71108900-71109050	GM12871	blood:	n/a	n/a
48	CTCF	chr14:71107680-71107830	GM12874	blood:	n/a	n/a
49	CTCF	chr14:71107620-71107770	GM12873	blood:	n/a	n/a
50	CTCF	chr14:71107660-71107810	GM12864	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71107931-71107981	AG10803	skin:	n/a
2	chr14:71107931-71107981	MCF-7	breast:	n/a
3	chr14:71109707-71109757	ovcar-3	ovarian:	n/a
4	chr14:71108024-71108074	HAEpiC	amniotic membrane:	n/a
5	chr14:71109040-71109090	A549	lung:	n/a
6	chr14:71107931-71107981	GM06990	blood:	n/a
7	chr14:71108199-71108249	HAEpiC	amniotic membrane:	n/a
8	chr14:71108024-71108074	LNCaP	prostate:	n/a
9	chr14:71107931-71107981	HEEpiC	esophagus:	n/a
10	chr14:71108199-71108249	GM19239	blood:	n/a
11	chr14:71109264-71109314	HRPEpiC	eye:	n/a
12	chr14:71107931-71107981	U87	brain:	n/a
13	chr14:71108199-71108249	AG04449	skin:	fetal
14	chr14:71108199-71108249	HRPEpiC	eye:	n/a
15	chr14:71109707-71109757	HRCEpiC	kidney:	n/a
16	chr14:71107931-71107981	SK-N-SH_RA	brain:	n/a
17	chr14:71109264-71109314	GM19239	blood:	n/a
18	chr14:71108106-71108156	CMK	blood:	n/a
19	chr14:71108106-71108156	HL-60	blood:	n/a
20	chr14:71108106-71108156	AG10803	skin:	n/a
21	chr14:71109264-71109314	GM12891	blood:	n/a
22	chr14:71108199-71108249	BE2_C	brain:	n/a
23	chr14:71107931-71107981	HNPCEpiC	eye:	n/a
24	chr14:71108199-71108249	HNPCEpiC	eye:	n/a
25	chr14:71109040-71109090	HCT-116	colon:	n/a
26	chr14:71107693-71107743	NB4	blood:	n/a
27	chr14:71107693-71107743	HRPEpiC	eye:	n/a
28	chr14:71109040-71109090	SK-N-SH_RA	brain:	n/a
29	chr14:71108199-71108249	T-47D	breast:	n/a
30	chr14:71108199-71108249	PrEC	prostate:	n/a
31	chr14:71108024-71108074	K562	blood:	n/a
32	chr14:71109707-71109757	U87	brain:	n/a
33	chr14:71107931-71107981	MCF10A-Er-Src	breast:	n/a
34	chr14:71109707-71109757	NHBE	bronchial:	n/a
35	chr14:71107693-71107743	AG09309	skin:	n/a
36	chr14:71109264-71109314	Hela-S3	cervix:	n/a
37	chr14:71108199-71108249	HepG2	liver:	n/a
38	chr14:71107931-71107981	Hela-S3	cervix:	n/a
39	chr14:71109040-71109090	AG09309	skin:	n/a
40	chr14:71109264-71109314	HEK293	kidney:	embryo
41	chr14:71107931-71107981	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:71109264-71109314	MCF-7	breast:	n/a
43	chr14:71109040-71109090	U87	brain:	n/a
44	chr14:71109040-71109090	NHDF-neo	bronchial:	n/a
45	chr14:71109040-71109090	BE2_C	brain:	n/a
46	chr14:71108106-71108156	GM12878	blood:	n/a
47	chr14:71109264-71109314	HL-60	blood:	n/a
48	chr14:71108106-71108156	BJ	skin:	n/a
49	chr14:71108106-71108156	HEK293	kidney:	embryo
50	chr14:71107693-71107743	H1-hESC	embryonic stem cell:	embryo

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71109389..71111016-chr14:71129736..71132457,2	MCF-7	breast:
2	chr14:71086221..71087894-chr14:71109543..71111323,2	MCF-7	breast:
3	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
4	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:
5	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:
6	chr14:71105872..71107697-chr14:71129081..71131202,2	MCF-7	breast:
7	chr14:71105308..71107393-chr14:71276714..71279710,2	MCF-7	breast:
8	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED6-1	chr14:71107725-71108015	ENSG00000245466

No data

Variant related genes	Relation type
TTC9	TF binding region
ENSG00000245466	TF binding region
ENSG00000259115	TF binding region
TTC9	CpG island
ENSG00000245466	CpG island
ENSG00000259115	CpG island
ENSG00000006432	chromatin interactions
ENSG00000259153	chromatin interactions
ENSG00000258689	chromatin interactions
RPRD1A	miRNA target sites

Extended variants
information (count: 98 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559488391	chr14:71107229-71107230	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs575817258	chr14:71107233-71107234	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs1572676	chr14:71107297-71107298	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545354683	chr14:71107298-71107299	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140390576	chr14:71107371-71107372	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs541639465	chr14:71107388-71107389	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs1538404	chr14:71107389-71107390	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1572677	chr14:71107441-71107442	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145654758	chr14:71107470-71107471	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs560063651	chr14:71107544-71107545	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs114249866	chr14:71107621-71107622	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs565699175	chr14:71107669-71107670	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs10144574	chr14:71107670-71107671	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532362668	chr14:71107671-71107672	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs550583909	chr14:71107705-71107706	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs552481569	chr14:71107724-71107725	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs148079594	chr14:71107757-71107758	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs536161429	chr14:71107766-71107767	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs555694248	chr14:71107833-71107834	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs564033075	chr14:71107883-71107884	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs567341185	chr14:71107926-71107927	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs12589444	chr14:71107939-71107940	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs1572678	chr14:71107942-71107943	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs577801438	chr14:71107983-71107984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs545624488	chr14:71108010-71108011	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs28577961	chr14:71108062-71108063	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377078273	chr14:71108085-71108086	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs575847163	chr14:71108109-71108110	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs542959594	chr14:71108202-71108203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs150209284	chr14:71108216-71108217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs36032659	chr14:71108305-71108306	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs146842953	chr14:71108307-71108308	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs187285729	chr14:71108324-71108325	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs138875473	chr14:71108345-71108346	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs74733482	chr14:71108346-71108347	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs528115657	chr14:71108356-71108357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs540305467	chr14:71108360-71108361	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs182759204	chr14:71108362-71108363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs565004530	chr14:71108388-71108389	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs187444600	chr14:71108407-71108408	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs28397006	chr14:71108448-71108449	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568968750	chr14:71108474-71108475	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs529967900	chr14:71108490-71108491	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs548103142	chr14:71108506-71108507	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs10147876	chr14:71108626-71108627	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs372979473	chr14:71108638-71108639	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs34357983	chr14:71108639-71108640	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs534731752	chr14:71108681-71108682	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs553041436	chr14:71108714-71108715	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs571760455	chr14:71108728-71108729	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Epilepsy	20502679	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71092200-71107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71092200-71107600	Weak transcription	HSMM	muscle
3	chr14:71102000-71107400	Weak transcription	Fetal Brain Female	brain
4	chr14:71103000-71107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:71106200-71107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71106200-71107600	Active TSS	Esophagus	oesophagus
7	chr14:71106600-71107400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr14:71106800-71107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:71106800-71107800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr14:71107000-71107400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:71107000-71107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:71107000-71107400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:71107000-71107400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr14:71107000-71107600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:71107000-71107600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:71107000-71107600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:71107000-71107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:71107000-71107800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr14:71107000-71108000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:71107000-71108000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr14:71107000-71108000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:71107000-71108000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr14:71107200-71107400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:71107200-71107400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr14:71107200-71107400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:71107200-71107400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71107200-71107400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:71107200-71107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:71107200-71107400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr14:71107200-71107400	Active TSS	Thymus	Thymus
31	chr14:71107200-71107400	Active TSS	HSMMtube	muscle
32	chr14:71107200-71107400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr14:71107200-71107600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:71107200-71107600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr14:71107200-71107600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:71107200-71107600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr14:71107200-71107800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr14:71107200-71107800	Enhancers	Spleen	Spleen
39	chr14:71107200-71107800	Flanking Active TSS	GM12878-XiMat	blood
40	chr14:71107200-71108000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr14:71107200-71108000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr14:71107400-71107600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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