Variant report

Variant	rs115001639
Chromosome Location	chr1:228743395-228743396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr1:228743308-228743705	K562	blood:	n/a	n/a
2	GTF3C2	chr1:228743328-228743740	K562	blood:	n/a	n/a
3	EP300	chr1:228743341-228743647	GM12878	blood:	n/a	chr1:228743408-228743424
4	TBP	chr1:228743364-228743626	GM12878	blood:	n/a	n/a
5	RAD21	chr1:228743342-228743584	HepG2	liver:	n/a	n/a
6	CREB1	chr1:228743297-228743744	HepG2	liver:	n/a	n/a
7	TBP	chr1:228743333-228743643	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr1:228743283-228743681	K562	blood:	n/a	n/a
9	YY1	chr1:228743313-228743696	HepG2	liver:	n/a	chr1:228743407-228743416
10	ARID3A	chr1:228743385-228743565	HepG2	liver:	n/a	n/a
11	TEAD4	chr1:228743250-228743666	HepG2	liver:	n/a	n/a
12	USF1	chr1:228743388-228743579	HepG2	liver:	n/a	n/a
13	TBP	chr1:228743286-228743703	HepG2	liver:	n/a	n/a
14	MBD4	chr1:228743360-228743629	HepG2	liver:	n/a	n/a
15	RPC155	chr1:228743347-228743786	Hela-S3	cervix:	n/a	n/a
16	ATF3	chr1:228743369-228743629	K562	blood:	n/a	n/a
17	TCF3	chr1:228743252-228743496	GM12878	blood:	n/a	chr1:228743425-228743438
18	GTF3C2	chr1:228743389-228743767	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr1:228743395-228743608	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228743373-228743423	AG09319	gingival:	n/a
2	chr1:228743373-228743423	H1-hESC	embryonic stem cell:	embryo
3	chr1:228743373-228743423	A549	lung:	n/a
4	chr1:228743373-228743423	PANC-1	pancreas:	n/a
5	chr1:228743373-228743423	HepG2	liver:	n/a
6	chr1:228743373-228743423	BE2_C	brain:	n/a
7	chr1:228743373-228743423	IMR90	lung:	fetal
8	chr1:228743373-228743423	PrEC	prostate:	n/a
9	chr1:228743373-228743423	MCF-7	breast:	n/a
10	chr1:228743373-228743423	AG09309	skin:	n/a
11	chr1:228743373-228743423	HUVEC	blood vessel:	n/a
12	chr1:228743373-228743423	SK-N-SH_RA	brain:	n/a
13	chr1:228743373-228743423	Caco-2	colon:	n/a
14	chr1:228743373-228743423	BJ	skin:	n/a
15	chr1:228743373-228743423	HCT-116	colon:	n/a
16	chr1:228743373-228743423	ProgFib	skin:	n/a
17	chr1:228743373-228743423	HIPEpiC	eye:	n/a
18	chr1:228743373-228743423	PFSK-1	brain:	n/a
19	chr1:228743373-228743423	HEK293	kidney:	embryo
20	chr1:228743373-228743423	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:228743373-228743423	Jurkat	blood:	n/a
22	chr1:228743373-228743423	HCF	heart:	n/a
23	chr1:228743373-228743423	ovcar-3	ovarian:	n/a
24	chr1:228743373-228743423	HCPEpiC	choroid plexus:	n/a
25	chr1:228743373-228743423	U87	brain:	n/a
26	chr1:228743373-228743423	HAEpiC	amniotic membrane:	n/a
27	chr1:228743373-228743423	Hepatocyte	liver:	n/a
28	chr1:228743373-228743423	NH-A	brain:	n/a
29	chr1:228743373-228743423	HMEC	breast:	n/a
30	chr1:228743373-228743423	LNCaP	prostate:	n/a
31	chr1:228743373-228743423	GM06990	blood:	n/a
32	chr1:228743373-228743423	MCF10A-Er-Src	breast:	n/a
33	chr1:228743373-228743423	GM12892	blood:	n/a
34	chr1:228743373-228743423	GM12878	blood:	n/a
35	chr1:228743373-228743423	HL-60	blood:	n/a
36	chr1:228743373-228743423	AG10803	skin:	n/a
37	chr1:228743373-228743423	HRCEpiC	kidney:	n/a
38	chr1:228743373-228743423	RPTEC	kidney:	n/a
39	chr1:228743373-228743423	NHDF-neo	bronchial:	n/a
40	chr1:228743373-228743423	HEEpiC	esophagus:	n/a
41	chr1:228743373-228743423	SK-N-MC	brain:	n/a
42	chr1:228743373-228743423	AG04450	lung:	fetal
43	chr1:228743373-228743423	HRPEpiC	eye:	n/a
44	chr1:228743373-228743423	SAEC	small airway:	n/a
45	chr1:228743373-228743423	NHBE	bronchial:	n/a
46	chr1:228743373-228743423	HRE	kidney:	n/a
47	chr1:228743373-228743423	K562	blood:	n/a
48	chr1:228743373-228743423	SK-N-SH	brain:	n/a
49	chr1:228743373-228743423	NT2-D1	testis:	n/a
50	chr1:228743373-228743423	HCM	heart:	n/a

No data

Variant related genes	Relation type
RNA5SP19	TF binding region
DUSP5P1	TF binding region
RNA5SP19	CpG island
DUSP5P1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	esv15299	chr1:228716554-228744099	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	nsv827075	chr1:228716554-228783674	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	nsv945355	chr1:228716611-228784016	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
6	nsv511124	chr1:228742457-228780671	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	18 gene(s)	inside rSNPs	diseases
7	esv19715	chr1:228742638-228783674	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
8	esv3425415	chr1:228742829-228783527	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
9	nsv827086	chr1:228742962-228783035	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
10	nsv820567	chr1:228742962-228783403	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
11	nsv827097	chr1:228742962-228783403	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
12	esv3331974	chr1:228743029-228783527	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	esv3342484	chr1:228743029-228783527	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
14	esv3382956	chr1:228743029-228783527	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
15	esv3445359	chr1:228743029-228783527	Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
16	esv3450984	chr1:228743029-228783527	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228742800-228743400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:228742800-228743400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:228743000-228743400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:228743000-228743600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:228743000-228744000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:228743200-228743600	Active TSS	HepG2	liver
7	chr1:228743200-228744000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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