Variant report

Variant	rs719213
Chromosome Location	chr8:114450361-114450362
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	chr8:114450319-114450538	GM19239	blood:	n/a	n/a
2	CTCF	chr8:114449962-114450506	GM19238	blood:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
3	KAP1	chr8:114449958-114451181	HEK293	kidney:	n/a	n/a
4	RAD21	chr8:114449738-114450383	ECC-1	luminal epithelium:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
5	RAD21	chr8:114449853-114451074	H1-hESC	embryonic stem cell:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
6	CTCF	chr8:114450320-114450470	NHEK	skin:	n/a	n/a
7	RAD21	chr8:114449717-114450404	A549	lung:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
8	CTCF	chr8:114450342-114450490	ProgFib	skin:	n/a	n/a
9	ZNF143	chr8:114449914-114450534	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr8:114449803-114450679	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:114449713-114450424	A549	lung:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
12	ZNF143	chr8:114449906-114450500	GM12878	blood:	n/a	n/a
13	FOXP2	chr8:114450008-114450653	PFSK-1	brain:	n/a	n/a
14	GATA3	chr8:114449798-114450382	MCF-7	breast:	n/a	n/a
15	ZKSCAN1	chr8:114449992-114450541	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr8:114449889-114450615	GM12878	blood:	n/a	chr8:114450100-114450114
17	CEBPB	chr8:114449885-114450607	MCF-7	breast:	n/a	chr8:114450076-114450087 chr8:114450095-114450106
18	CTCF	chr8:114450301-114450378	LNCaP	prostate:	n/a	n/a
19	CTCF	chr8:114450318-114450424	MCF-7	breast:	n/a	n/a
20	RAD21	chr8:114449801-114450460	H1-hESC	embryonic stem cell:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
21	POLR2A	chr8:114449877-114450547	H1-neurons	neurons:	n/a	n/a
22	RAD21	chr8:114449814-114450638	MCF-7	breast:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
23	SMC3	chr8:114449759-114450919	SK-N-SH	brain:	n/a	chr8:114450100-114450114
24	TCF12	chr8:114449857-114450385	A549	lung:	n/a	n/a
25	CEBPB	chr8:114449904-114450521	Hela-S3	cervix:	n/a	chr8:114450076-114450087 chr8:114450095-114450106
26	JUND	chr8:114449945-114450510	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:114450349-114450483	A549	lung:	n/a	n/a
28	CTCF	chr8:114449971-114450458	GM19240	blood:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
29	MAX	chr8:114449834-114450497	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr8:114450337-114450478	GM12878	blood:	n/a	n/a
31	RAD21	chr8:114449649-114451222	SK-N-SH	brain:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
32	MAZ	chr8:114449984-114450570	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr8:114449751-114450585	MCF-7	breast:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
34	CTCF	chr8:114449879-114450364	MCF-7	breast:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
35	TFAP2A	chr8:114450013-114451057	Hela-S3	cervix:	n/a	chr8:114450395-114450405 chr8:114450395-114450405 chr8:114450393-114450407 chr8:114451010-114451021 chr8:114450395-114450405 chr8:114451010-114451021 chr8:114451010-114451021 chr8:114450393-114450407 chr8:114451010-114451021 chr8:114450391-114450406 chr8:114450395-114450405 chr8:114450393-114450407 chr8:114450393-114450407
36	CTCF	chr8:114449972-114450643	GM12891	blood:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
37	TCF7L2	chr8:114449993-114450390	PANC-1	pancreas:	n/a	n/a
38	SMC3	chr8:114449701-114450615	Hela-S3	cervix:	n/a	chr8:114450100-114450114
39	CTCF	chr8:114449876-114450544	GM12878	blood:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
40	CTCF	chr8:114449631-114450715	SK-N-SH	brain:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
41	ZNF143	chr8:114449940-114450703	H1-hESC	embryonic stem cell:	n/a	n/a
42	SUZ12	chr8:114449932-114451284	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr8:114449929-114450501	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr8:114449888-114450373	H1-hESC	embryonic stem cell:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
45	CTCF	chr8:114449835-114450409	MCF-7	breast:	n/a	chr8:114450099-114450115 chr8:114450098-114450116 chr8:114450093-114450114 chr8:114450100-114450113
46	TFAP2C	chr8:114449991-114451182	Hela-S3	cervix:	n/a	chr8:114450391-114450406
47	CTCF	chr8:114450308-114450503	Fibrobl	skin:	n/a	n/a
48	RAD21	chr8:114449889-114450484	GM12878	blood:	n/a	chr8:114450100-114450114 chr8:114450328-114450340 chr8:114450096-114450115
49	CTCF	chr8:114450355-114450431	NHEK	skin:	n/a	n/a
50	HA-E2F1	chr8:114449826-114451240	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:114450347-114450397	HepG2	liver:	n/a
2	chr8:114450347-114450397	HCT-116	colon:	n/a
3	chr8:114450347-114450397	Hepatocyte	liver:	n/a
4	chr8:114450347-114450397	Hela-S3	cervix:	n/a
5	chr8:114450347-114450397	SAEC	small airway:	n/a
6	chr8:114450347-114450397	H1-hESC	embryonic stem cell:	embryo
7	chr8:114450347-114450397	HCF	heart:	n/a
8	chr8:114450347-114450397	NT2-D1	testis:	n/a
9	chr8:114450347-114450397	GM12892	blood:	n/a
10	chr8:114450347-114450397	HUVEC	blood vessel:	n/a
11	chr8:114450347-114450397	AG04450	lung:	fetal
12	chr8:114450347-114450397	HCPEpiC	choroid plexus:	n/a
13	chr8:114450347-114450397	BJ	skin:	n/a
14	chr8:114450347-114450397	PFSK-1	brain:	n/a
15	chr8:114450347-114450397	AG04449	skin:	fetal
16	chr8:114450347-114450397	HMEC	breast:	n/a
17	chr8:114450347-114450397	Jurkat	blood:	n/a
18	chr8:114450347-114450397	HAEpiC	amniotic membrane:	n/a
19	chr8:114450347-114450397	ProgFib	skin:	n/a
20	chr8:114450347-114450397	PANC-1	pancreas:	n/a
21	chr8:114450347-114450397	BE2_C	brain:	n/a
22	chr8:114450347-114450397	PrEC	prostate:	n/a
23	chr8:114450347-114450397	A549	lung:	n/a
24	chr8:114450347-114450397	MCF10A-Er-Src	breast:	n/a
25	chr8:114450347-114450397	HL-60	blood:	n/a
26	chr8:114450347-114450397	AG09319	gingival:	n/a
27	chr8:114450347-114450397	AG09309	skin:	n/a
28	chr8:114450347-114450397	SK-N-SH_RA	brain:	n/a
29	chr8:114450347-114450397	NB4	blood:	n/a
30	chr8:114450347-114450397	NH-A	brain:	n/a
31	chr8:114450347-114450397	MCF-7	breast:	n/a
32	chr8:114450347-114450397	IMR90	lung:	fetal
33	chr8:114450347-114450397	HPAEpiC	pulmonary alveolar:	n/a
34	chr8:114450347-114450397	HRE	kidney:	n/a
35	chr8:114450347-114450397	Caco-2	colon:	n/a
36	chr8:114450347-114450397	SK-N-SH	brain:	n/a
37	chr8:114450347-114450397	HNPCEpiC	eye:	n/a
38	chr8:114450347-114450397	HEK293	kidney:	embryo
39	chr8:114450347-114450397	HIPEpiC	eye:	n/a
40	chr8:114450347-114450397	LNCaP	prostate:	n/a
41	chr8:114450347-114450397	HCM	heart:	n/a
42	chr8:114450347-114450397	U87	brain:	n/a
43	chr8:114450347-114450397	ovcar-3	ovarian:	n/a
44	chr8:114450347-114450397	GM12878	blood:	n/a
45	chr8:114450347-114450397	HRPEpiC	eye:	n/a
46	chr8:114450347-114450397	RPTEC	kidney:	n/a
47	chr8:114450347-114450397	NHDF-neo	bronchial:	n/a
48	chr8:114450347-114450397	HRCEpiC	kidney:	n/a
49	chr8:114450347-114450397	NHBE	bronchial:	n/a
50	chr8:114450347-114450397	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:112976625..112977471-chr8:114449676..114450374,2	MCF-7	breast:
2	chr8:114189275..114190202-chr8:114449887..114450479,2	MCF-7	breast:
3	chr8:113774045..113774707-chr8:114449888..114450422,3	MCF-7	breast:
4	chr8:113812991..113814473-chr8:114449636..114450437,5	MCF-7	breast:
5	chr8:113476778..113477604-chr8:114449777..114450474,2	MCF-7	breast:

Variant related genes	Relation type
CSMD3	TF binding region
CSMD3	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10099644	0.81[CHB][hapmap]
rs1533274	0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs16884604	0.87[CHB][hapmap];0.93[GIH][hapmap]
rs16884651	0.91[CHB][hapmap];0.98[GIH][hapmap];0.82[AMR][1000 genomes]
rs16884657	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16884662	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16884689	0.90[CHB][hapmap];0.86[AMR][1000 genomes]
rs16884700	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs16892653	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1993895	0.85[AMR][1000 genomes]
rs2127057	0.90[CHB][hapmap];0.82[AMR][1000 genomes]
rs4074797	0.82[CHB][hapmap]
rs57433086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62522269	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72673263	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7464662	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
2	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr8:114446400-114450600	Active TSS	Brain Anterior Caudate	brain
5	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain
6	chr8:114446600-114450600	Active TSS	Brain Germinal Matrix	brain
7	chr8:114447000-114450800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr8:114447800-114450400	Weak transcription	Pancreas	Pancrea
9	chr8:114448400-114450600	Active TSS	Fetal Brain Male	brain
10	chr8:114448600-114450400	Active TSS	Brain Hippocampus Middle	brain
11	chr8:114448800-114450400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:114448800-114450400	Active TSS	Fetal Brain Female	brain
13	chr8:114448800-114450800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:114448800-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:114448800-114450800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr8:114448800-114451000	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr8:114448800-114451200	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:114449000-114450400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:114449000-114451000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:114449200-114450400	Active TSS	Right Atrium	heart
21	chr8:114449200-114450800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr8:114449200-114451000	Bivalent Enhancer	Fetal Heart	heart
23	chr8:114449400-114450400	Bivalent/Poised TSS	A549	lung
24	chr8:114449400-114450600	Enhancers	Spleen	Spleen
25	chr8:114449400-114450800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr8:114449600-114450400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr8:114449600-114450400	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:114449600-114450600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:114449600-114450600	Bivalent Enhancer	Liver	Liver
30	chr8:114449600-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:114449600-114450800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:114449600-114450800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:114449600-114450800	Flanking Bivalent TSS/Enh	NH-A	brain
34	chr8:114449600-114451000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:114449800-114450400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:114449800-114450400	Enhancers	Aorta	Aorta
37	chr8:114449800-114450600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr8:114449800-114450600	Active TSS	Psoas Muscle	Psoas
39	chr8:114449800-114450600	Active TSS	Hela-S3	cervix
40	chr8:114449800-114451000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:114449800-114451000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:114449800-114451000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:114449800-114451200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:114449800-114451200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:114450000-114450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:114450000-114450400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:114450000-114450400	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr8:114450000-114450600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:114450000-114450600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr8:114450000-114450800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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