Variant report

Variant	rs4630741
Chromosome Location	chr2:10091472-10091473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr2:10091099-10092064	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:10091018-10092287	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:10091243-10092350	HepG2	liver:	n/a	n/a
4	SMC3	chr2:10091314-10091592	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:10091215-10092085	H1-neurons	neurons:	n/a	n/a
6	ELF1	chr2:10090670-10091561	GM12878	blood:	n/a	n/a
7	CTCF	chr2:10091460-10091610	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr2:10091163-10092280	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:10091059-10092346	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:10091170-10092064	K562	blood:	n/a	n/a
11	CTCF	chr2:10091137-10091613	GM12878	blood:	n/a	n/a
12	UBTF	chr2:10091092-10091577	K562	blood:	n/a	n/a
13	POLR2A	chr2:10091370-10092006	A549	lung:	n/a	n/a
14	RAD21	chr2:10091160-10091590	IMR90	lung:	n/a	n/a
15	HEY1	chr2:10091420-10091610	K562	blood:	n/a	chr2:10091530-10091545 chr2:10091521-10091536
16	NRF1	chr2:10091069-10092077	SK-N-SH	brain:	n/a	chr2:10091615-10091626 chr2:10091508-10091517
17	UBTF	chr2:10091146-10091579	K562	blood:	n/a	n/a
18	EGR1	chr2:10091121-10091857	K562	blood:	n/a	chr2:10091466-10091480
19	CTCF	chr2:10091460-10091610	AG04449	skin:	n/a	n/a
20	RAD21	chr2:10091448-10091616	K562	blood:	n/a	n/a
21	REST	chr2:10091010-10092234	H1-neurons	neurons:	n/a	chr2:10091109-10091122 chr2:10091112-10091125 chr2:10091135-10091145
22	MAZ	chr2:10091126-10092096	GM12878	blood:	n/a	n/a
23	HMGN3	chr2:10090855-10092433	K562	blood:	n/a	n/a
24	PAX5	chr2:10091463-10091989	GM12892	blood:	n/a	n/a
25	MAX	chr2:10089602-10092724	HepG2	liver:	n/a	n/a
26	PAX5	chr2:10091465-10091777	GM12892	blood:	n/a	n/a
27	CHD2	chr2:10091095-10091874	GM12878	blood:	n/a	chr2:10091738-10091748 chr2:10091371-10091381
28	MAX	chr2:10090969-10092273	A549	lung:	n/a	n/a
29	POLR2A	chr2:10091446-10091643	A549	lung:	n/a	n/a
30	POLR2A	chr2:10091442-10092019	Raji	blood:	n/a	n/a
31	MAX	chr2:10091149-10091618	K562	blood:	n/a	n/a
32	CTCF	chr2:10091460-10091610	GM12866	blood:	n/a	n/a
33	POLR2A	chr2:10091428-10091645	A549	lung:	n/a	n/a
34	TAF1	chr2:10091134-10092158	ECC-1	luminal epithelium:	n/a	n/a
35	RAD21	chr2:10091158-10091545	HepG2	liver:	n/a	n/a
36	TAF1	chr2:10091115-10092436	HepG2	liver:	n/a	n/a
37	EGR1	chr2:10091152-10091743	K562	blood:	n/a	chr2:10091466-10091480
38	ETS1	chr2:10091206-10091490	K562	blood:	n/a	n/a
39	POLR2A	chr2:10091075-10091648	K562	blood:	n/a	n/a
40	HEY1	chr2:10091463-10091652	K562	blood:	n/a	chr2:10091530-10091545 chr2:10091521-10091536
41	CTCF	chr2:10091414-10091629	K562	blood:	n/a	n/a
42	ELF1	chr2:10091075-10091480	K562	blood:	n/a	n/a
43	RCOR1	chr2:10091230-10091916	HepG2	liver:	n/a	n/a
44	MAX	chr2:10091284-10091846	Hela-S3	cervix:	n/a	n/a
45	YY1	chr2:10090797-10092544	HepG2	liver:	n/a	chr2:10091531-10091542 chr2:10091171-10091182 chr2:10091791-10091805 chr2:10091045-10091059 chr2:10091777-10091791 chr2:10092345-10092354
46	CTCF	chr2:10091026-10091664	K562	blood:	n/a	n/a
47	MYC	chr2:10091147-10092824	K562	blood:	n/a	n/a
48	CREB1	chr2:10091427-10092155	A549	lung:	n/a	n/a
49	CTCF	chr2:10091400-10091550	WERI-Rb-1	eye:	n/a	n/a
50	MAZ	chr2:10091110-10092401	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9768803..9771575-chr2:10089760..10091656,2	MCF-7	breast:
2	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
5	chr2:10089749..10091694-chr2:10096424..10099200,2	K562	blood:
6	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
7	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
8	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
9	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
10	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
11	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
12	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
13	chr2:10090081..10091760-chr2:10195035..10197397,2	K562	blood:
14	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:

Variant related genes	Relation type
GRHL1	TF binding region
ENSG00000172059	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3409366	chr2:10090126-10092874	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3369173	chr2:10090451-10093249	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3326017	chr2:10090726-10093274	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:10090200-10092600	Active TSS	Gastric	stomach
3	chr2:10090400-10093000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:10090600-10092400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:10090600-10092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10090600-10092600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10090600-10092600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:10090600-10092600	Active TSS	Colon Smooth Muscle	Colon
9	chr2:10090600-10092800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:10090600-10092800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:10090600-10092800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:10090600-10092800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:10090600-10092800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:10090600-10092800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:10090600-10092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:10090600-10092800	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:10090800-10092200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:10090800-10092200	Active TSS	HSMM	muscle
19	chr2:10090800-10092200	Active TSS	NH-A	brain
20	chr2:10090800-10092400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10090800-10092400	Active TSS	Primary T cells from cord blood	blood
22	chr2:10090800-10092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:10090800-10092400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr2:10090800-10092400	Active TSS	Liver	Liver
25	chr2:10090800-10092400	Active TSS	HSMMtube	muscle
26	chr2:10090800-10092400	Active TSS	NHDF-Ad	bronchial
27	chr2:10090800-10092400	Active TSS	NHEK	skin
28	chr2:10090800-10092600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr2:10090800-10092600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:10090800-10092600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:10090800-10092600	Active TSS	Left Ventricle	heart
32	chr2:10090800-10092600	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:10090800-10092600	Active TSS	A549	lung
34	chr2:10090800-10092600	Active TSS	NHLF	lung
35	chr2:10090800-10092800	Active TSS	Brain Angular Gyrus	brain
36	chr2:10090800-10092800	Active TSS	Brain Anterior Caudate	brain
37	chr2:10090800-10092800	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:10090800-10092800	Active TSS	Psoas Muscle	Psoas
39	chr2:10090800-10093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:10090800-10093400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:10090800-10093400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:10090800-10093600	Active TSS	Esophagus	oesophagus
43	chr2:10091000-10091800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10091000-10091800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:10091000-10092000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:10091000-10092200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:10091000-10092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:10091000-10092200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr2:10091000-10092200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:10091000-10092200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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