Variant report

Variant	rs2771314
Chromosome Location	chr14:21429585-21429586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:21429441-21429782	A549	lung:	n/a	n/a
2	CTCF	chr14:21429458-21429697	GM19240	blood:	n/a	n/a
3	CTCF	chr14:21429445-21429665	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:21429469-21429723	Medullo	brain:	n/a	n/a
5	CTCF	chr14:21429423-21429764	HepG2	liver:	n/a	n/a
6	ZNF384	chr14:21429032-21429638	K562	blood:	n/a	n/a
7	CTCF	chr14:21429580-21429730	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr14:21429434-21429715	IMR90	lung:	n/a	n/a
9	E2F4	chr14:21429375-21429713	MCF10A-Er-Src	breast:	n/a	n/a
10	CTCF	chr14:21429489-21429686	K562	blood:	n/a	n/a
11	CTCFL	chr14:21429507-21429610	K562	blood:	n/a	n/a
12	POLR2A	chr14:21429252-21429790	SK-N-MC	brain:	n/a	n/a
13	CTCF	chr14:21429580-21429730	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr14:21429439-21429699	K562	blood:	n/a	n/a
15	CTCF	chr14:21429560-21429710	GM06990	blood:	n/a	n/a
16	CTCF	chr14:21429580-21429730	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:21429500-21429650	GM12871	blood:	n/a	n/a
18	CTCF	chr14:21429479-21429671	Lung_OC	lung:	n/a	n/a
19	RAD21	chr14:21429500-21429636	IMR90	lung:	n/a	n/a
20	CTCF	chr14:21429521-21429610	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr14:21429459-21429676	GM12892	blood:	n/a	n/a
22	CTCF	chr14:21429540-21429690	GM12875	blood:	n/a	n/a
23	CTCF	chr14:21429560-21429710	GM12864	blood:	n/a	n/a
24	CTCF	chr14:21429493-21429643	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:21429507-21429651	GM20000	blood:	n/a	n/a
26	CTCF	chr14:21429501-21429700	K562	blood:	n/a	n/a
27	CTCF	chr14:21429460-21429610	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr14:21429480-21429630	HMF	breast:	n/a	n/a
29	CTCF	chr14:21429457-21429692	A549	lung:	n/a	n/a
30	CTCF	chr14:21429480-21429630	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr14:21429460-21429610	AG04449	skin:	n/a	n/a
32	CTCF	chr14:21429520-21429670	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr14:21429480-21429650	K562	blood:	n/a	n/a
34	CTCF	chr14:21429488-21429683	GM12878	blood:	n/a	n/a
35	CTCF	chr14:21429438-21429730	K562	blood:	n/a	n/a
36	SMC3	chr14:21429570-21429634	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr14:21429473-21429663	GM19239	blood:	n/a	n/a
38	CTCF	chr14:21429478-21429661	Fibrobl	skin:	n/a	n/a
39	CTCF	chr14:21429560-21429710	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:21429413-21429627	K562	blood:	n/a	n/a
41	USF1	chr14:21429548-21429816	H1-hESC	embryonic stem cell:	n/a	chr14:21429653-21429664
42	CTCF	chr14:21429492-21429672	LNCaP	prostate:	n/a	n/a
43	CTCF	chr14:21429520-21429670	GM12870	blood:	n/a	n/a
44	CTCF	chr14:21429520-21429670	GM12873	blood:	n/a	n/a
45	CTCF	chr14:21429435-21429705	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr14:21429435-21429676	HepG2	liver:	n/a	n/a
47	CTCF	chr14:21429520-21429670	AG10803	skin:	n/a	n/a
48	CTCF	chr14:21429520-21429670	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr14:21429560-21429710	HUVEC	blood vessel:	n/a	n/a
50	RAD21	chr14:21429425-21429695	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21429229..21430249-chr14:21438962..21439710,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL189P	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2771357	1.00[AMR][1000 genomes]
rs73571930	1.00[AMR][1000 genomes]
rs73585979	1.00[AMR][1000 genomes]
rs73586029	1.00[AMR][1000 genomes]
rs74036595	1.00[AMR][1000 genomes]
rs74037713	1.00[AMR][1000 genomes]
rs74037714	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv983967	chr14:21341911-21433655	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2757556	chr14:21353099-21433342	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv456146	chr14:21361384-21432455	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv563850	chr14:21361384-21432455	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1051920	chr14:21362024-21432455	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
15	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
16	nsv901475	chr14:21426282-21465489	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21428000-21430000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:21428200-21430800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:21429000-21429800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:21429000-21429800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:21429000-21430000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:21429000-21430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:21429000-21430200	Enhancers	Brain Hippocampus Middle	brain
8	chr14:21429200-21429600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:21429200-21429600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:21429200-21429600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr14:21429200-21429600	Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr14:21429200-21429600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21429200-21429600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:21429200-21429600	Flanking Active TSS	HepG2	liver
15	chr14:21429200-21429800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:21429200-21429800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:21429200-21429800	Active TSS	A549	lung
18	chr14:21429200-21429800	Active TSS	K562	blood
19	chr14:21429400-21429600	Enhancers	Dnd41	blood
20	chr14:21429400-21429800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:21429400-21429800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:21429400-21429800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:21429400-21429800	Active TSS	Right Atrium	heart
24	chr14:21429400-21429800	Active TSS	NHEK	skin
25	chr14:21429400-21430000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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