Variant report

Variant	rs9694695
Chromosome Location	chr8:105601162-105601163
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	TAF1	chr8:105600800-105601709	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:105600829-105601197	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr8:105599933-105602287	K562	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
4	POLR2A	chr8:105600267-105602170	K562	blood:	n/a	n/a
5	RELA	chr8:105601125-105601943	GM18951	blood:	n/a	n/a
6	YY1	chr8:105601011-105601703	K562	blood:	n/a	chr8:105601465-105601474 chr8:105601359-105601373
7	MAX	chr8:105600969-105601235	K562	blood:	n/a	n/a
8	POLR2A	chr8:105601088-105601716	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr8:105600069-105601948	IMR90	lung:	n/a	n/a
10	E2F6	chr8:105601125-105602039	H1-hESC	embryonic stem cell:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105601535-105601546
11	POLR2A	chr8:105600981-105601668	MCF10A-Er-Src	breast:	n/a	n/a
12	SIN3AK20	chr8:105600883-105601813	SK-N-SH	brain:	n/a	n/a
13	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
14	ELF1	chr8:105601138-105601834	GM12878	blood:	n/a	chr8:105601544-105601556
15	POLR2A	chr8:105600787-105601988	H1-neurons	neurons:	n/a	n/a
16	ZMIZ1	chr8:105600953-105602157	K562	blood:	n/a	n/a
17	POLR2A	chr8:105600685-105601715	GM12878	blood:	n/a	n/a
18	ZBTB7A	chr8:105600590-105601625	ECC-1	luminal epithelium:	n/a	chr8:105600747-105600755
19	POLR2A	chr8:105600524-105602191	GM19099	blood:	n/a	n/a
20	POLR2A	chr8:105600947-105601173	GM12878	blood:	n/a	n/a
21	SMARCB1	chr8:105600742-105601998	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr8:105600870-105601305	H1-neurons	neurons:	n/a	n/a
23	TBP	chr8:105600357-105601707	H1-hESC	embryonic stem cell:	n/a	n/a
24	HDAC2	chr8:105600754-105602360	MCF-7	breast:	n/a	chr8:105601556-105601564
25	POLR2A	chr8:105600518-105602105	GM19193	blood:	n/a	n/a
26	MAZ	chr8:105600371-105601965	GM12878	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
27	ZNF143	chr8:105601148-105601739	K562	blood:	n/a	chr8:105601341-105601351 chr8:105601463-105601473
28	TAF1	chr8:105600935-105601822	K562	blood:	n/a	n/a
29	ZNF143	chr8:105600359-105601753	GM12878	blood:	n/a	chr8:105601341-105601351 chr8:105601726-105601744 chr8:105601463-105601473
30	POLR2A	chr8:105600880-105601751	HL-60	blood:	n/a	n/a
31	CTCF	chr8:105601020-105601170	HCPEpiC	choroid plexus:	n/a	n/a
32	HCFC1	chr8:105600849-105602333	K562	blood:	n/a	n/a
33	POLR2A	chr8:105600891-105601669	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF143	chr8:105600938-105601742	H1-hESC	embryonic stem cell:	n/a	chr8:105601341-105601351 chr8:105601463-105601473
35	E2F6	chr8:105601045-105601728	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105601535-105601546
36	POLR2A	chr8:105600988-105601716	A549	lung:	n/a	n/a
37	MAX	chr8:105600832-105602664	MCF-7	breast:	n/a	chr8:105601356-105601365
38	MYC	chr8:105600966-105602441	K562	blood:	n/a	chr8:105601356-105601365
39	EP300	chr8:105601122-105601736	K562	blood:	n/a	chr8:105601463-105601472 chr8:105601465-105601474 chr8:105601246-105601262
40	IRF1	chr8:105600994-105601754	K562	blood:	n/a	n/a
41	TAF1	chr8:105600783-105601709	H1-neurons	neurons:	n/a	n/a
42	RUNX3	chr8:105600830-105601306	GM12878	blood:	n/a	n/a
43	EGR1	chr8:105601044-105601422	K562	blood:	n/a	n/a
44	POLR2A	chr8:105600567-105601753	K562	blood:	n/a	n/a
45	POLR2A	chr8:105600894-105601691	IMR90	lung:	n/a	n/a
46	POLR2A	chr8:105600872-105601208	SK-N-SH	brain:	n/a	n/a
47	ZNF263	chr8:105600850-105602812	HEK293-T-REx	kidney:	n/a	chr8:105601304-105601313 chr8:105601311-105601320
48	POLR2A	chr8:105600781-105601720	SK-N-MC	brain:	n/a	n/a
49	EP300	chr8:105600894-105601522	ECC-1	luminal epithelium:	n/a	chr8:105601463-105601472 chr8:105601465-105601474 chr8:105601246-105601262
50	RFX5	chr8:105601002-105601759	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10505059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871756	1.00[AMR][1000 genomes]
rs16871785	1.00[AMR][1000 genomes]
rs4476984	1.00[AMR][1000 genomes]
rs4478539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986610	1.00[AMR][1000 genomes]
rs6986854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009354	1.00[AMR][1000 genomes]
rs7009946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010874	1.00[AMR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7819974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820450	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
2	chr8:105598800-105602000	Active TSS	Brain Anterior Caudate	brain
3	chr8:105598800-105602000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:105599000-105602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:105599200-105602000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:105599200-105602400	Active TSS	Right Atrium	heart
7	chr8:105599200-105602400	Active TSS	Right Ventricle	heart
8	chr8:105599400-105602200	Active TSS	Left Ventricle	heart
9	chr8:105599600-105601800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:105599600-105602400	Active TSS	Colonic Mucosa	Colon
11	chr8:105599800-105601800	Active TSS	Fetal Brain Female	brain
12	chr8:105599800-105602000	Active TSS	Brain Angular Gyrus	brain
13	chr8:105599800-105602000	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:105599800-105602200	Active TSS	Fetal Kidney	kidney
15	chr8:105599800-105602400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:105599800-105602400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:105599800-105602400	Active TSS	HSMMtube	muscle
18	chr8:105600000-105601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:105600000-105601400	Active TSS	Fetal Brain Male	brain
20	chr8:105600000-105601800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:105600000-105601800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:105600000-105601800	Active TSS	Fetal Intestine Small	intestine
23	chr8:105600000-105601800	Active TSS	Fetal Muscle Trunk	muscle
24	chr8:105600000-105601800	Active TSS	K562	blood
25	chr8:105600000-105601800	Active TSS	NH-A	brain
26	chr8:105600000-105602000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:105600000-105602000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:105600000-105602000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:105600000-105602000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr8:105600000-105602000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr8:105600000-105602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:105600000-105602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:105600000-105602200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:105600000-105602400	Active TSS	Aorta	Aorta
37	chr8:105600000-105602400	Active TSS	Brain Substantia Nigra	brain
38	chr8:105600000-105602400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:105600000-105602400	Active TSS	HSMM	muscle
40	chr8:105600000-105602400	Active TSS	NHDF-Ad	bronchial
41	chr8:105600000-105602600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:105600000-105602600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:105600000-105602600	Active TSS	Fetal Lung	lung
44	chr8:105600000-105602800	Active TSS	Thymus	Thymus
45	chr8:105600200-105601800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:105600200-105601800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr8:105600200-105601800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr8:105600200-105601800	Active TSS	Esophagus	oesophagus
49	chr8:105600200-105601800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr8:105600200-105602000	Active TSS	HUES48 Cell Line	embryonic stem cell

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