Variant report

Variant	rs1805845
Chromosome Location	chr8:90996516-90996517
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	chr8:90996444-90996712	GM12892	blood:	n/a	n/a
2	RELA	chr8:90995911-90997095	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:90995890-90997057	GM12878	blood:	n/a	n/a
4	CTCF	chr8:90996440-90996590	AG10803	skin:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
5	CTCF	chr8:90996113-90997278	HCT-116	colon:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
6	TEAD4	chr8:90995861-90997187	K562	blood:	n/a	n/a
7	POLR2A	chr8:90996040-90997157	HL-60	blood:	n/a	n/a
8	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
9	GATA3	chr8:90996281-90996571	T-47D	breast:	n/a	n/a
10	MAX	chr8:90996035-90997093	H1-hESC	embryonic stem cell:	n/a	chr8:90996485-90996495
11	HEY1	chr8:90996157-90997025	K562	blood:	n/a	n/a
12	POLR2A	chr8:90995742-90997028	GM12878	blood:	n/a	n/a
13	RAD21	chr8:90996246-90996696	K562	blood:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996521-90996535
14	CEBPB	chr8:90995608-90997140	GM12878	blood:	n/a	n/a
15	ZBTB7A	chr8:90996296-90996987	K562	blood:	n/a	chr8:90996527-90996536
16	FOS	chr8:90996256-90996999	MCF10A-Er-Src	breast:	n/a	n/a
17	IRF4	chr8:90995986-90996975	GM12878	blood:	n/a	chr8:90996293-90996307 chr8:90996289-90996310
18	CEBPB	chr8:90996037-90996984	K562	blood:	n/a	n/a
19	POLR2A	chr8:90996484-90996979	A549	lung:	n/a	n/a
20	POLR2A	chr8:90995392-90997299	GM19099	blood:	n/a	n/a
21	CTCF	chr8:90995855-90997305	MCF-7	breast:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
22	TCF12	chr8:90996127-90997104	A549	lung:	n/a	n/a
23	CTCF	chr8:90996440-90996590	AG09309	skin:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
24	PML	chr8:90996237-90997003	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:90996303-90997028	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:90996480-90996630	HepG2	liver:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
27	CTCF	chr8:90996420-90996570	GM12869	blood:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
28	POLR2A	chr8:90995925-90997049	GM15510	blood:	n/a	n/a
29	STAT3	chr8:90995847-90997115	GM12878	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
30	IRF1	chr8:90995653-90997167	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310
31	STAT1	chr8:90996077-90996567	K562	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
32	EBF1	chr8:90996009-90996954	GM12878	blood:	n/a	chr8:90996029-90996038 chr8:90996027-90996038
33	REST	chr8:90996000-90996956	PFSK-1	brain:	n/a	n/a
34	SP1	chr8:90996102-90996774	GM12878	blood:	n/a	chr8:90996499-90996511 chr8:90996481-90996495 chr8:90996500-90996509 chr8:90996501-90996510 chr8:90996499-90996511
35	HDAC2	chr8:90996227-90996607	K562	blood:	n/a	n/a
36	CTCF	chr8:90996440-90996590	SK-N-SH_RA	brain:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
37	CTCF	chr8:90996420-90996570	K562	blood:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
38	MYC	chr8:90995736-90997170	K562	blood:	n/a	chr8:90996485-90996495
39	CTCF	chr8:90996380-90996530	HRE	kidney:	n/a	chr8:90996418-90996431
40	POLR2A	chr8:90996018-90997062	SK-N-MC	brain:	n/a	n/a
41	MXI1	chr8:90995894-90997109	HepG2	liver:	n/a	n/a
42	POLR2A	chr8:90996067-90997046	HEK293	kidney:	n/a	n/a
43	E2F6	chr8:90996233-90997049	A549	lung:	n/a	chr8:90996927-90996938
44	CTCF	chr8:90996195-90996681	HepG2	liver:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
45	CTCF	chr8:90996440-90996590	GM12878	blood:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
46	ZEB1	chr8:90996270-90997043	GM12878	blood:	n/a	n/a
47	USF1	chr8:90996130-90996610	SK-N-SH	brain:	n/a	n/a
48	SIN3A	chr8:90996132-90997058	GM12878	blood:	n/a	n/a
49	TAF1	chr8:90996330-90997037	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr8:90996022-90997203	HepG2	liver:	n/a	chr8:90996485-90996495

No.	Distal block	Cell Line	Cell type
1	chr17:42147861..42148433-chr8:90996291..90996925,2	HCT-116	colon:
2	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
3	chr8:90788699..90792573-chr8:90996217..90998925,4	MCF-7	breast:
4	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
5	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
6	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
7	chr11:62622632..62623481-chr8:90996307..90996864,2	Hela-S3	cervix:
8	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
9	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
10	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
11	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
12	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
13	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
14	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
15	chr8:90914584..90915234-chr8:90995916..90996860,2	MCF-7	breast:
16	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
17	chr17:58513028..58513762-chr8:90996328..90996888,2	MCF-7	breast:
18	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
19	chr8:90769588..90771314-chr8:90995090..90996692,2	K562	blood:
20	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
21	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
22	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000141349	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000213228	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13312853	1.00[AMR][1000 genomes]
rs13312883	0.83[AMR][1000 genomes]
rs13312894	0.83[AMR][1000 genomes]
rs13312897	0.83[AMR][1000 genomes]
rs13312905	0.83[AMR][1000 genomes]
rs13312925	0.83[AMR][1000 genomes]
rs13312937	0.83[AMR][1000 genomes]
rs13312951	0.83[AMR][1000 genomes]
rs16902376	1.00[AMR][1000 genomes]
rs16902465	1.00[AMR][1000 genomes]
rs16902840	0.83[AMR][1000 genomes]
rs1805814	0.83[AMR][1000 genomes]
rs1805819	0.83[AMR][1000 genomes]
rs1805821	1.00[AMR][1000 genomes]
rs1805827	0.83[AMR][1000 genomes]
rs1805828	0.83[AMR][1000 genomes]
rs1805843	1.00[AMR][1000 genomes]
rs1805887	1.00[AMR][1000 genomes]
rs1805910	0.83[AMR][1000 genomes]
rs7017507	0.83[AMR][1000 genomes]
rs73308410	1.00[AMR][1000 genomes]
rs73308442	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
2	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon
5	chr8:90993800-90997200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:90994000-90997000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:90994000-90997000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:90994000-90997000	Active TSS	Psoas Muscle	Psoas
10	chr8:90994000-90997000	Active TSS	HSMMtube	muscle
11	chr8:90994200-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:90994400-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:90994600-90997000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:90994600-90997000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:90994600-90997000	Active TSS	Brain Anterior Caudate	brain
16	chr8:90994600-90997000	Active TSS	Rectal Smooth Muscle	rectum
17	chr8:90994600-90997000	Active TSS	HSMM	muscle
18	chr8:90994600-90997200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:90994600-90997200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:90994600-90997600	Active TSS	Brain Substantia Nigra	brain
21	chr8:90994800-90997000	Active TSS	A549	lung
22	chr8:90994800-90997200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:90994800-90997200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:90994800-90997200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:90994800-90997200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:90994800-90997400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:90994800-90997400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:90994800-90997400	Active TSS	K562	blood
29	chr8:90995000-90997000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:90995000-90997000	Active TSS	Aorta	Aorta
31	chr8:90995000-90997000	Active TSS	HMEC	breast
32	chr8:90995000-90997200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:90995200-90997000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:90995200-90997000	Active TSS	Hela-S3	cervix
35	chr8:90995200-90997000	Active TSS	NHLF	lung
36	chr8:90995200-90997200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:90995200-90997200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:90995200-90997200	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:90995200-90997200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:90995200-90997200	Active TSS	NH-A	brain
41	chr8:90995200-90997200	Active TSS	NHDF-Ad	bronchial
42	chr8:90995400-90996800	Active TSS	Fetal Lung	lung
43	chr8:90995400-90997000	Active TSS	Primary B cells from peripheral blood	blood
44	chr8:90995400-90997000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:90995400-90997000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:90995400-90997000	Active TSS	Colonic Mucosa	Colon
47	chr8:90995400-90997000	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:90995400-90997000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr8:90995400-90997000	Active TSS	Fetal Intestine Large	intestine
50	chr8:90995400-90997000	Active TSS	Fetal Intestine Small	intestine

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