Variant report

Variant	rs6993072
Chromosome Location	chr8:8241149-8241150
allele	C/T
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	ETS1	chr8:8241106-8241678	A549	lung:	n/a	chr8:8241651-8241662 chr8:8241655-8241662 chr8:8241408-8241415
2	RAD21	chr8:8241098-8241540	SK-N-SH_RA	brain:	n/a	chr8:8241285-8241304
3	RAD21	chr8:8241022-8241613	A549	lung:	n/a	chr8:8241285-8241304
4	RAD21	chr8:8241076-8241472	HepG2	liver:	n/a	chr8:8241285-8241304
5	TCF12	chr8:8241054-8242086	A549	lung:	n/a	n/a
6	RAD21	chr8:8241126-8241655	MCF-7	breast:	n/a	chr8:8241285-8241304
7	CTCF	chr8:8241120-8241270	MCF-7	breast:	n/a	n/a
8	RAD21	chr8:8241081-8241575	H1-hESC	embryonic stem cell:	n/a	chr8:8241285-8241304
9	POLR2A	chr8:8238700-8244933	HepG2	liver:	n/a	n/a
10	CTCF	chr8:8241120-8241270	AG04450	lung:	n/a	n/a
11	SMC3	chr8:8241140-8241443	Hela-S3	cervix:	n/a	chr8:8241286-8241300
12	CTCF	chr8:8241110-8241460	GM12878	blood:	n/a	chr8:8241284-8241302 chr8:8241286-8241307
13	RAD21	chr8:8241121-8241370	GM12878	blood:	n/a	chr8:8241285-8241304
14	MAX	chr8:8241081-8242497	A549	lung:	n/a	n/a
15	CTCF	chr8:8241068-8241514	A549	lung:	n/a	chr8:8241284-8241302 chr8:8241286-8241307
16	RAD21	chr8:8241105-8241376	GM12878	blood:	n/a	chr8:8241285-8241304
17	CTCF	chr8:8241098-8241443	MCF-7	breast:	n/a	chr8:8241284-8241302 chr8:8241286-8241307
18	RAD21	chr8:8241127-8241417	A549	lung:	n/a	chr8:8241285-8241304
19	RAD21	chr8:8241143-8241453	Hela-S3	cervix:	n/a	chr8:8241285-8241304
20	CTCF	chr8:8241100-8241250	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr8:8241128-8241458	IMR90	lung:	n/a	chr8:8241284-8241302 chr8:8241286-8241307
22	RAD21	chr8:8241127-8242420	H1-hESC	embryonic stem cell:	n/a	chr8:8241808-8241820 chr8:8241285-8241304
23	SMC3	chr8:8241141-8241543	HepG2	liver:	n/a	chr8:8241286-8241300
24	RAD21	chr8:8241057-8241702	A549	lung:	n/a	chr8:8241285-8241304
25	RAD21	chr8:8241138-8241448	SK-N-SH_RA	brain:	n/a	chr8:8241285-8241304
26	RAD21	chr8:8241140-8241527	H1-hESC	embryonic stem cell:	n/a	chr8:8241285-8241304
27	CTCF	chr8:8240973-8242301	A549	lung:	n/a	chr8:8241284-8241302 chr8:8241286-8241307
28	POLR2A	chr8:8241068-8242561	HepG2	liver:	n/a	n/a
29	CTCF	chr8:8241040-8241190	GM12865	blood:	n/a	n/a
30	REST	chr8:8241053-8241633	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8108549..8111183-chr8:8240516..8242778,2	MCF-7	breast:
2	chr8:8235042..8240063-chr8:8240771..8244973,7	MCF-7	breast:
3	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:
4	chr8:8233939..8236566-chr8:8240658..8243964,3	K562	blood:
5	chr8:8240498..8242072-chr8:8280467..8282099,2	MCF-7	breast:
6	chr8:8240682..8243465-chr8:8266165..8269097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	TF binding region
ENSG00000182319	Chromatin interaction
ENSG00000253505	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58831341	1.00[AMR][1000 genomes]
rs6601696	1.00[AMR][1000 genomes]
rs7012328	1.00[AMR][1000 genomes]
rs7012652	1.00[AMR][1000 genomes]
rs7015578	1.00[AMR][1000 genomes]
rs73521278	1.00[AMR][1000 genomes]
rs7812460	1.00[AMR][1000 genomes]
rs7845700	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8220400-8241800	Weak transcription	NHDF-Ad	bronchial
2	chr8:8230200-8241600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8232000-8241200	Weak transcription	Psoas Muscle	Psoas
4	chr8:8234000-8241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:8234000-8241200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:8234000-8241400	Weak transcription	Hela-S3	cervix
7	chr8:8234400-8241200	Weak transcription	Fetal Thymus	thymus
8	chr8:8234800-8241200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:8235000-8241600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:8235600-8241400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:8236000-8241400	Weak transcription	Gastric	stomach
12	chr8:8236000-8241400	Weak transcription	Ovary	ovary
13	chr8:8236200-8242600	Weak transcription	Aorta	Aorta
14	chr8:8237000-8241200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:8237000-8241200	Weak transcription	Right Atrium	heart
16	chr8:8237400-8241200	Weak transcription	Thymus	Thymus
17	chr8:8237400-8241400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:8237400-8241400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:8237400-8241400	Weak transcription	Esophagus	oesophagus
20	chr8:8237400-8241800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:8237400-8242200	Weak transcription	Liver	Liver
22	chr8:8237600-8241200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:8237600-8241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:8237600-8241200	Weak transcription	NHLF	lung
25	chr8:8237800-8241200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:8237800-8241200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:8237800-8241200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:8238200-8241400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:8238400-8241400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:8238600-8241400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:8238800-8241800	Transcr. at gene 5' and 3'	A549	lung
32	chr8:8238800-8243400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:8239000-8241200	Enhancers	Small Intestine	intestine
34	chr8:8239200-8241200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:8239200-8241200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:8239200-8241200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:8239200-8241200	Enhancers	Fetal Intestine Large	intestine
38	chr8:8239200-8241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:8239200-8241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:8239200-8241400	Weak transcription	Pancreas	Pancrea
41	chr8:8239200-8243000	Weak transcription	Spleen	Spleen
42	chr8:8239400-8241200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:8239400-8241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:8239400-8241200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:8239400-8241200	Weak transcription	Placenta	Placenta
46	chr8:8239400-8241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:8239400-8241400	Weak transcription	Colonic Mucosa	Colon
48	chr8:8239400-8241400	Weak transcription	Lung	lung
49	chr8:8239600-8241200	Weak transcription	Stomach Mucosa	stomach
50	chr8:8239600-8241400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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