Variant report

Variant	rs35191150
Chromosome Location	chr2:10972738-10972739
allele	C/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	CTCF	chr2:10972430-10972781	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
2	CTCF	chr2:10972420-10972808	NHEK	skin:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
3	CTCF	chr2:10972272-10972872	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
4	MAX	chr2:10972267-10972894	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr2:10972416-10973022	IMR90	lung:	n/a	n/a
6	MYC	chr2:10972459-10972791	MCF-7	breast:	n/a	n/a
7	SP1	chr2:10972470-10972778	GM12878	blood:	n/a	n/a
8	RAD21	chr2:10972350-10972903	H1-hESC	embryonic stem cell:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
9	CTCF	chr2:10972484-10972779	HUVEC	blood vessel:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
10	CTCF	chr2:10972468-10972783	Kidney_OC	kidney:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
11	SMC3	chr2:10972369-10972849	Hela-S3	cervix:	n/a	chr2:10972630-10972644 chr2:10972531-10972545
12	RAD21	chr2:10972358-10972831	HepG2	liver:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
13	E2F6	chr2:10972162-10972959	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXP2	chr2:10972463-10972781	PFSK-1	brain:	n/a	n/a
15	CTCF	chr2:10972469-10972791	Medullo	brain:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
16	CTCF	chr2:10972335-10972868	HepG2	liver:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
17	BHLHE40	chr2:10972470-10972794	HepG2	liver:	n/a	n/a
18	STAT1	chr2:10972568-10972762	GM12878	blood:	n/a	n/a
19	RAD21	chr2:10972163-10973074	HCT-116	colon:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
20	RAD21	chr2:10972357-10972844	SK-N-SH_RA	brain:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
21	RAD21	chr2:10972288-10972959	H1-hESC	embryonic stem cell:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
22	RCOR1	chr2:10972486-10972855	HepG2	liver:	n/a	n/a
23	CTCF	chr2:10972428-10972790	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
24	CTCF	chr2:10972425-10972792	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
25	RAD21	chr2:10972309-10973084	ECC-1	luminal epithelium:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
26	E2F6	chr2:10972279-10972792	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:10972440-10972797	Spleen_OC	spleen:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
28	CTCF	chr2:10972007-10973173	HCT-116	colon:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
29	CTCF	chr2:10972424-10972783	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
30	HDAC2	chr2:10972337-10972887	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:10972440-10972835	Lung_OC	lung:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
32	ATF2	chr2:10972346-10972786	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:10972136-10972979	MCF-7	breast:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
34	RCOR1	chr2:10972460-10972803	K562	blood:	n/a	n/a
35	CTCF	chr2:10972256-10972811	GM19238	blood:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
36	CTCF	chr2:10972477-10972772	GM10248	blood:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
37	CTCF	chr2:10972238-10972918	A549	lung:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
38	ZNF143	chr2:10972421-10972788	K562	blood:	n/a	n/a
39	CTCF	chr2:10972396-10972824	K562	blood:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
40	CTCF	chr2:10972462-10972781	LNCaP	prostate:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
41	CTCF	chr2:10972384-10972857	IMR90	lung:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
42	CREB1	chr2:10972385-10972791	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:10971969-10973239	SK-N-SH	brain:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
44	JUND	chr2:10972417-10972838	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:10972319-10972833	H1-hESC	embryonic stem cell:	n/a	chr2:10972629-10972645 chr2:10972630-10972651 chr2:10972628-10972646 chr2:10972631-10972644 chr2:10972535-10972544 chr2:10972631-10972644
46	YY1	chr2:10972492-10972871	HepG2	liver:	n/a	n/a
47	SIN3A	chr2:10972388-10972826	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr2:10972349-10972842	Hela-S3	cervix:	n/a	chr2:10972536-10972545 chr2:10972629-10972648
49	MAZ	chr2:10972389-10972773	Hela-S3	cervix:	n/a	n/a
50	MAX	chr2:10972453-10972766	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10972715-10972765	HRPEpiC	eye:	n/a
2	chr2:10972715-10972765	HCT-116	colon:	n/a
3	chr2:10972715-10972765	LNCaP	prostate:	n/a
4	chr2:10972715-10972765	HRCEpiC	kidney:	n/a
5	chr2:10972715-10972765	AG04450	lung:	fetal
6	chr2:10972715-10972765	HAEpiC	amniotic membrane:	n/a
7	chr2:10972715-10972765	HEK293	kidney:	embryo
8	chr2:10972715-10972765	HCPEpiC	choroid plexus:	n/a
9	chr2:10972715-10972765	GM19239	blood:	n/a
10	chr2:10972715-10972765	AG09319	gingival:	n/a
11	chr2:10972715-10972765	PFSK-1	brain:	n/a
12	chr2:10972715-10972765	NT2-D1	testis:	n/a
13	chr2:10972715-10972765	Caco-2	colon:	n/a
14	chr2:10972715-10972765	BE2_C	brain:	n/a
15	chr2:10972715-10972765	H1-hESC	embryonic stem cell:	embryo
16	chr2:10972715-10972765	Hela-S3	cervix:	n/a
17	chr2:10972715-10972765	AG04449	skin:	fetal
18	chr2:10972715-10972765	HNPCEpiC	eye:	n/a
19	chr2:10972715-10972765	MCF10A-Er-Src	breast:	n/a
20	chr2:10972715-10972765	HUVEC	blood vessel:	n/a
21	chr2:10972715-10972765	NHBE	bronchial:	n/a
22	chr2:10972715-10972765	HIPEpiC	eye:	n/a
23	chr2:10972715-10972765	BJ	skin:	n/a
24	chr2:10972715-10972765	MCF-7	breast:	n/a
25	chr2:10972715-10972765	A549	lung:	n/a
26	chr2:10972715-10972765	SK-N-SH	brain:	n/a
27	chr2:10972715-10972765	HCF	heart:	n/a
28	chr2:10972715-10972765	GM12891	blood:	n/a
29	chr2:10972715-10972765	CMK	blood:	n/a
30	chr2:10972715-10972765	NHDF-neo	bronchial:	n/a
31	chr2:10972715-10972765	U87	brain:	n/a
32	chr2:10972715-10972765	HEEpiC	esophagus:	n/a
33	chr2:10972715-10972765	K562	blood:	n/a
34	chr2:10972715-10972765	AoSMC	blood vessel:	n/a
35	chr2:10972715-10972765	SK-N-SH_RA	brain:	n/a
36	chr2:10972715-10972765	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:10972715-10972765	GM06990	blood:	n/a
38	chr2:10972715-10972765	ovcar-3	ovarian:	n/a
39	chr2:10972715-10972765	ECC-1	luminal epithelium:	n/a
40	chr2:10972715-10972765	GM12892	blood:	n/a
41	chr2:10972715-10972765	AG10803	skin:	n/a
42	chr2:10972715-10972765	HRE	kidney:	n/a
43	chr2:10972715-10972765	SK-N-MC	brain:	n/a
44	chr2:10972715-10972765	NH-A	brain:	n/a
45	chr2:10972715-10972765	PANC-1	pancreas:	n/a
46	chr2:10972715-10972765	AG09309	skin:	n/a
47	chr2:10972715-10972765	Jurkat	blood:	n/a
48	chr2:10972715-10972765	T-47D	breast:	n/a
49	chr2:10972715-10972765	IMR90	lung:	fetal
50	chr2:10972715-10972765	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10952771..10956477-chr2:10972417..10975728,4	MCF-7	breast:
2	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:
3	chr2:10972705..10973216-chr2:11040003..11040608,2	MCF-7	breast:
4	chr2:10972636..10975307-chr2:11052060..11056394,5	MCF-7	breast:
5	chr2:10972589..10973103-chr2:11272836..11273401,2	MCF-7	breast:

Variant related genes	Relation type
PDIA6	TF binding region
PDIA6	CpG island
ENSG00000150873	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000162975	Chromatin interaction
ENSG00000238962	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11903377	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1686475	0.81[ASN][1000 genomes]
rs923453	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10968200-10973000	Enhancers	Liver	Liver
2	chr2:10968200-10973200	Enhancers	Spleen	Spleen
3	chr2:10970000-10973200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10970200-10973600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:10970800-10975200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:10971000-10973000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10971200-10972800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr2:10971200-10973200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr2:10971600-10973200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:10971600-10974600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:10971600-10975600	Enhancers	HUVEC	blood vessel
12	chr2:10971800-10972800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:10972000-10973000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10972200-10973000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:10972200-10973000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:10972200-10973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:10972200-10973000	Enhancers	Right Ventricle	heart
18	chr2:10972200-10973200	Enhancers	Brain Angular Gyrus	brain
19	chr2:10972200-10974000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr2:10972200-10975600	Enhancers	Fetal Brain Female	brain
21	chr2:10972200-10978800	Enhancers	Fetal Brain Male	brain
22	chr2:10972400-10972800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:10972400-10972800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr2:10972400-10972800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:10972400-10972800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:10972400-10972800	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr2:10972400-10972800	Enhancers	Pancreas	Pancrea
28	chr2:10972400-10972800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr2:10972400-10973000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:10972400-10973000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:10972400-10973000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:10972400-10973000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:10972400-10973000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:10972400-10973000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:10972400-10973000	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr2:10972400-10973000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:10972400-10973000	Enhancers	Gastric	stomach
38	chr2:10972400-10973000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr2:10972400-10973000	Enhancers	Right Atrium	heart
40	chr2:10972400-10973000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr2:10972400-10973000	Enhancers	NHLF	lung
42	chr2:10972400-10973200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:10972400-10973400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr2:10972400-10974400	Bivalent Enhancer	Fetal Stomach	stomach
45	chr2:10972400-10974800	Enhancers	Colon Smooth Muscle	Colon
46	chr2:10972600-10972800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10972600-10972800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr2:10972600-10972800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:10972600-10972800	Enhancers	Brain Germinal Matrix	brain
50	chr2:10972600-10972800	Enhancers	Brain Hippocampus Middle	brain

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