Variant report

Variant	rs3748141
Chromosome Location	chr8:8749729-8749730
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	POLR2A	chr8:8749627-8751557	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:8749681-8751412	HepG2	liver:	n/a	n/a
3	CTCF	chr8:8749598-8749733	GM19239	blood:	n/a	n/a
4	MAX	chr8:8749451-8751649	ECC-1	luminal epithelium:	n/a	chr8:8751163-8751172 chr8:8751162-8751173 chr8:8751161-8751170
5	MXI1	chr8:8749694-8750317	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr8:8749481-8750573	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr8:8749567-8750174	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr8:8749525-8751832	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr8:8749640-8749760	GM19240	blood:	n/a	n/a
10	CTCF	chr8:8749580-8749730	RPTEC	kidney:	n/a	n/a
11	E2F6	chr8:8749642-8751439	K562	blood:	n/a	chr8:8750732-8750742
12	CTCF	chr8:8749674-8749729	Pancreas_OC	pancreas:	n/a	n/a
13	MAX	chr8:8749626-8750715	A549	lung:	n/a	n/a
14	POLR2A	chr8:8749653-8749921	HCT-116	colon:	n/a	n/a
15	CTCF	chr8:8749591-8749798	MCF-7	breast:	n/a	n/a
16	NFIC	chr8:8749462-8750798	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr8:8749620-8749770	HepG2	liver:	n/a	n/a
18	NRF1	chr8:8749438-8750594	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr8:8749366-8749890	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:8749580-8749730	Caco-2	colon:	n/a	n/a
21	CTCF	chr8:8749656-8749746	GM10266	blood:	n/a	n/a
22	CTCF	chr8:8749589-8749783	A549	lung:	n/a	n/a
23	CTCF	chr8:8749607-8749786	MCF-7	breast:	n/a	n/a
24	TCF12	chr8:8749523-8750558	ECC-1	luminal epithelium:	n/a	n/a
25	TAF1	chr8:8749498-8750508	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:8749582-8749787	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr8:8749384-8750694	ECC-1	luminal epithelium:	n/a	n/a
28	MYC	chr8:8749700-8751753	A549	lung:	n/a	chr8:8751163-8751172 chr8:8751162-8751173 chr8:8751161-8751170
29	POLR2A	chr8:8749679-8751385	MCF-7	breast:	n/a	n/a
30	MAX	chr8:8749483-8751575	HepG2	liver:	n/a	chr8:8751163-8751172 chr8:8751162-8751173 chr8:8751161-8751170
31	MAX	chr8:8749505-8750663	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr8:8749597-8749772	A549	lung:	n/a	n/a
33	CHD2	chr8:8749654-8750359	Hela-S3	cervix:	n/a	n/a
34	MAX	chr8:8749368-8751376	H1-hESC	embryonic stem cell:	n/a	chr8:8751163-8751172 chr8:8751162-8751173 chr8:8751161-8751170
35	CTCF	chr8:8749620-8749770	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr8:8749358-8751586	ECC-1	luminal epithelium:	n/a	chr8:8751444-8751454
37	CTCF	chr8:8749640-8749790	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr8:8749620-8749770	GM12869	blood:	n/a	n/a
39	MAZ	chr8:8749600-8749847	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr8:8749593-8749748	LNCaP	prostate:	n/a	n/a
41	HDAC2	chr8:8749588-8750304	MCF-7	breast:	n/a	n/a
42	MAX	chr8:8749492-8751654	A549	lung:	n/a	chr8:8751163-8751172 chr8:8751162-8751173 chr8:8751161-8751170
43	POLR2A	chr8:8748282-8751466	ECC-1	luminal epithelium:	n/a	n/a
44	ZNF263	chr8:8749620-8751306	HEK293-T-REx	kidney:	n/a	chr8:8750864-8750873
45	CTCF	chr8:8749660-8749810	GM12871	blood:	n/a	n/a
46	RFX5	chr8:8749633-8749775	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:8749548-8750615	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr8:8749622-8749750	K562	blood:	n/a	n/a
49	CTCF	chr8:8749635-8749731	Gliobla	brain:	n/a	n/a
50	RAD21	chr8:8749590-8749867	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8676467..8679551-chr8:8749550..8751180,3	K562	blood:
2	chr8:8678976..8682016-chr8:8748981..8752043,3	MCF-7	breast:
3	chr8:8647143..8649997-chr8:8748170..8750908,2	MCF-7	breast:
4	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
5	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:
6	chr8:8678713..8680298-chr8:8749363..8750992,2	MCF-7	breast:
7	chr8:8715858..8717945-chr8:8749655..8752629,2	K562	blood:

Variant related genes	Relation type
RNU6-682P	TF binding region
ENSG00000254367	Chromatin interaction
ENSG00000104626	Chromatin interaction
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10092694	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1062988	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12335245	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13249564	0.81[EUR][1000 genomes]
rs13250810	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13251163	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13254041	0.83[EUR][1000 genomes]
rs13260641	0.82[EUR][1000 genomes]
rs13263327	0.82[EUR][1000 genomes]
rs13265597	0.82[EUR][1000 genomes]
rs13268804	0.82[EUR][1000 genomes]
rs13274994	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276873	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13277397	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278142	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28626220	0.82[EUR][1000 genomes]
rs28711612	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34315433	0.80[EUR][1000 genomes]
rs35005822	0.82[EUR][1000 genomes]
rs35400846	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35736441	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35820021	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36025219	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36045355	0.80[EUR][1000 genomes]
rs36061325	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3762032	0.82[EUR][1000 genomes]
rs4840373	0.81[EUR][1000 genomes]
rs4841061	0.82[EUR][1000 genomes]
rs4841062	0.82[EUR][1000 genomes]
rs4841063	0.82[EUR][1000 genomes]
rs4841067	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60822177	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6601267	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7008835	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013902	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71514517	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73192215	0.82[EUR][1000 genomes]
rs73192227	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7844068	0.82[EUR][1000 genomes]
rs9942753	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1803827	chr8:8745741-8758058	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1825921	chr8:8745741-8758058	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1835162	chr8:8745741-8758058	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1797256	chr8:8747894-8751316	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1805128	chr8:8747894-8751316	Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv1805100	chr8:8747894-8752684	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1817276	chr8:8748032-8750571	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv1825506	chr8:8748032-8751316	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1835786	chr8:8748032-8751316	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1844744	chr8:8748032-8751316	Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1824559	chr8:8748032-8752587	Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3371289	chr8:8748742-8753140	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr8:8745200-8750200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr8:8745800-8750600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:8747200-8750200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr8:8747400-8749800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr8:8747400-8750000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:8747600-8750200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr8:8747600-8750200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:8747800-8749800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:8747800-8749800	Flanking Active TSS	HepG2	liver
10	chr8:8747800-8751800	Active TSS	Fetal Kidney	kidney
11	chr8:8748000-8749800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:8748200-8749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:8748200-8750000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr8:8748200-8750000	Enhancers	Fetal Heart	heart
15	chr8:8748600-8750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:8748800-8749800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:8748800-8749800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr8:8748800-8749800	Enhancers	Ovary	ovary
19	chr8:8748800-8749800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:8748800-8749800	Weak transcription	K562	blood
21	chr8:8748800-8750000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr8:8748800-8750000	Flanking Active TSS	Right Ventricle	heart
23	chr8:8748800-8750400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr8:8748800-8750600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr8:8749000-8749800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:8749000-8749800	Enhancers	Psoas Muscle	Psoas
27	chr8:8749000-8749800	Flanking Active TSS	Hela-S3	cervix
28	chr8:8749000-8750000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:8749000-8750000	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:8749000-8750000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:8749000-8750000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr8:8749000-8750000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:8749000-8750200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:8749000-8750200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:8749000-8750200	Flanking Active TSS	Fetal Thymus	thymus
36	chr8:8749000-8750400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:8749000-8750600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:8749000-8750600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:8749200-8749800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:8749200-8749800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:8749200-8749800	Flanking Active TSS	Left Ventricle	heart
42	chr8:8749200-8749800	Flanking Active TSS	Pancreas	Pancrea
43	chr8:8749200-8750000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:8749200-8750000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:8749200-8750000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr8:8749200-8750000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr8:8749200-8750000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr8:8749200-8750000	Flanking Active TSS	Gastric	stomach
49	chr8:8749200-8750000	Flanking Active TSS	Lung	lung
50	chr8:8749200-8750200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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