Variant report

Variant	rs7581442
Chromosome Location	chr2:231084902-231084903
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	POLR2A	chr2:231084433-231085055	HepG2	liver:	n/a	n/a
2	SPI1	chr2:231084441-231085069	GM12878	blood:	n/a	n/a
3	CTCF	chr2:231084800-231084950	HMEC	breast:	n/a	n/a
4	CTCF	chr2:231084840-231084990	HPAF	blood vessel:	n/a	n/a
5	POLR2A	chr2:231084477-231085108	Hela-S3	cervix:	n/a	n/a
6	MYC	chr2:231084771-231084940	MCF-7	breast:	n/a	n/a
7	HCFC1	chr2:231084527-231085338	K562	blood:	n/a	n/a
8	POLR2A	chr2:231084485-231085045	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:231084196-231085757	GM12878	blood:	n/a	n/a
10	ELF1	chr2:231084392-231085067	MCF-7	breast:	n/a	chr2:231084768-231084777 chr2:231084683-231084696
11	POLR2A	chr2:231084633-231084940	HUVEC	blood vessel:	n/a	n/a
12	TAF1	chr2:231084581-231084964	GM12892	blood:	n/a	n/a
13	FOS	chr2:231084619-231085144	MCF10A-Er-Src	breast:	n/a	n/a
14	TAF1	chr2:231084513-231084928	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:231084277-231085227	U87	brain:	n/a	n/a
16	FOXA1	chr2:231084635-231085023	T-47D	breast:	n/a	n/a
17	STAT1	chr2:231084374-231084993	K562	blood:	n/a	chr2:231084741-231084752 chr2:231084727-231084738
18	RAD21	chr2:231084557-231084973	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr2:231084565-231084910	GM12878	blood:	n/a	chr2:231084736-231084750
20	POLR2A	chr2:231084391-231085301	GM12891	blood:	n/a	n/a
21	ARID3A	chr2:231084718-231085165	HepG2	liver:	n/a	n/a
22	NRF1	chr2:231084346-231085043	GM12878	blood:	n/a	n/a
23	SPI1	chr2:231084424-231084960	GM12891	blood:	n/a	n/a
24	MAX	chr2:231084230-231085065	Hela-S3	cervix:	n/a	chr2:231084453-231084464 chr2:231084452-231084462 chr2:231084419-231084429
25	MAX	chr2:231084620-231085007	K562	blood:	n/a	n/a
26	POLR2A	chr2:231084456-231085071	K562	blood:	n/a	n/a
27	POLR2A	chr2:231084703-231084939	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr2:231084485-231084995	GM12891	blood:	n/a	n/a
29	POLR2A	chr2:231084508-231084975	Hela-S3	cervix:	n/a	n/a
30	FOXA1	chr2:231084884-231085180	A549	lung:	n/a	n/a
31	TAF1	chr2:231084539-231084942	SK-N-SH	brain:	n/a	n/a
32	MAX	chr2:231084276-231085011	GM12878	blood:	n/a	chr2:231084453-231084464 chr2:231084452-231084462 chr2:231084419-231084429
33	EBF1	chr2:231084599-231084949	GM12878	blood:	n/a	n/a
34	REST	chr2:231084479-231085119	HL-60	blood:	n/a	n/a
35	STAT1	chr2:231084478-231084979	K562	blood:	n/a	chr2:231084741-231084752 chr2:231084727-231084738
36	EP300	chr2:231084551-231084942	GM12878	blood:	n/a	chr2:231084736-231084750
37	ELF1	chr2:231084254-231085006	HepG2	liver:	n/a	chr2:231084768-231084777 chr2:231084683-231084696
38	RAD21	chr2:231084504-231085077	IMR90	lung:	n/a	chr2:231084507-231084521 chr2:231084506-231084520
39	YY1	chr2:231084558-231084979	GM12892	blood:	n/a	n/a
40	MXI1	chr2:231084278-231084992	HepG2	liver:	n/a	n/a
41	GABPA	chr2:231084449-231085119	SK-N-SH	brain:	n/a	n/a
42	RELA	chr2:231084353-231084948	GM18951	blood:	n/a	n/a
43	GABPA	chr2:231084468-231084924	A549	lung:	n/a	n/a
44	BRCA1	chr2:231084810-231085060	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:231084455-231085070	GM12892	blood:	n/a	n/a
46	GABPA	chr2:231084293-231085131	SK-N-SH	brain:	n/a	n/a
47	MAX	chr2:231084313-231084973	H1-hESC	embryonic stem cell:	n/a	chr2:231084453-231084464 chr2:231084452-231084462 chr2:231084419-231084429
48	POLR2A	chr2:231084147-231085489	GM12892	blood:	n/a	n/a
49	TCF12	chr2:231084038-231084996	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr2:231084642-231084946	K562	blood:	n/a	n/a

Variant related genes	Relation type
SP110	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1465530	0.99[ASN][1000 genomes]
rs1863675	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966555	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2114589	0.94[ASN][1000 genomes]
rs2278197	0.99[ASN][1000 genomes]
rs28399164	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813466	0.94[ASN][1000 genomes]
rs4143559	0.84[ASN][1000 genomes]
rs4384773	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4973303	0.99[ASN][1000 genomes]
rs56936337	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6708519	0.99[ASN][1000 genomes]
rs7580900	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9288661	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231082400-231085200	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:231082600-231085400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:231082600-231085400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr2:231082600-231085600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:231083000-231085000	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr2:231083000-231085000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:231083000-231085200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:231083000-231085200	Active TSS	Psoas Muscle	Psoas
9	chr2:231083000-231085200	Active TSS	Right Atrium	heart
10	chr2:231083000-231085400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:231083200-231085000	Active TSS	Brain Hippocampus Middle	brain
12	chr2:231083200-231085200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:231083200-231085200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr2:231083200-231085400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr2:231083200-231085400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:231083200-231085600	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:231083400-231085000	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr2:231083400-231085200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:231083400-231085200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:231083400-231085200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:231083400-231085200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:231083400-231085200	Active TSS	Colon Smooth Muscle	Colon
23	chr2:231083400-231085600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:231083600-231085000	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:231083600-231085000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:231083600-231085200	Active TSS	Thymus	Thymus
27	chr2:231083800-231085000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:231083800-231085200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:231083800-231085200	Active TSS	Ovary	ovary
30	chr2:231084000-231085000	Active TSS	Brain Anterior Caudate	brain
31	chr2:231084000-231085000	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:231084000-231085000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr2:231084000-231085000	Active TSS	Fetal Lung	lung
34	chr2:231084000-231085000	Active TSS	Hela-S3	cervix
35	chr2:231084000-231085000	Active TSS	NH-A	brain
36	chr2:231084000-231085200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:231084000-231085200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:231084000-231085200	Active TSS	Brain Substantia Nigra	brain
39	chr2:231084000-231085200	Active TSS	Fetal Heart	heart
40	chr2:231084000-231085200	Active TSS	Fetal Muscle Trunk	muscle
41	chr2:231084000-231085200	Active TSS	Fetal Muscle Leg	muscle
42	chr2:231084000-231085200	Active TSS	Right Ventricle	heart
43	chr2:231084000-231085200	Active TSS	NHLF	lung
44	chr2:231084000-231085200	Active TSS	Osteobl	bone
45	chr2:231084000-231085400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:231084000-231085400	Active TSS	Fetal Intestine Small	intestine
47	chr2:231084000-231085400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:231084000-231085400	Active TSS	NHDF-Ad	bronchial
49	chr2:231084200-231085000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:231084200-231085000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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