Variant report

Variant	rs61745861
Chromosome Location	chr11:8986519-8986520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8985487-8986805	HEK293	kidney:	n/a	n/a
2	GABPA	chr11:8985525-8986754	Hela-S3	cervix:	n/a	chr11:8985970-8985979
3	POLR2A	chr11:8985124-8987161	HepG2	liver:	n/a	n/a
4	CREB1	chr11:8985448-8986892	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:8985160-8986872	GM19193	blood:	n/a	n/a
6	TCF7L2	chr11:8985728-8986802	Hela-S3	cervix:	n/a	n/a
7	STAT1	chr11:8985587-8986645	GM12878	blood:	n/a	chr11:8985596-8985608
8	BCL3	chr11:8985438-8986933	A549	lung:	n/a	chr11:8985979-8985988 chr11:8985615-8985624
9	ELK1	chr11:8985674-8986736	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:8985212-8986939	HCT-116	colon:	n/a	chr11:8986527-8986537 chr11:8985612-8985622 chr11:8986441-8986450
11	TAF1	chr11:8985506-8986799	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:8985454-8986890	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:8985216-8986868	K562	blood:	n/a	chr11:8986527-8986537 chr11:8985612-8985622 chr11:8986441-8986450
14	TBP	chr11:8985396-8986827	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr11:8985617-8986745	SK-N-SH	brain:	n/a	chr11:8986580-8986591
16	PML	chr11:8985727-8986557	K562	blood:	n/a	n/a
17	YY1	chr11:8985856-8986759	ECC-1	luminal epithelium:	n/a	chr11:8986580-8986591
18	RFX5	chr11:8985710-8986558	GM12878	blood:	n/a	n/a
19	TAF1	chr11:8985473-8986769	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr11:8985459-8986833	A549	lung:	n/a	n/a
21	KAP1	chr11:8985746-8986816	HEK293	kidney:	n/a	n/a
22	BCL3	chr11:8985580-8986671	A549	lung:	n/a	chr11:8985979-8985988 chr11:8985615-8985624
23	MAX	chr11:8985599-8986760	K562	blood:	n/a	chr11:8986527-8986537 chr11:8985612-8985622 chr11:8986441-8986450
24	ELF1	chr11:8985535-8986810	A549	lung:	n/a	n/a
25	SMARCB1	chr11:8985269-8986852	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:8985595-8986818	HCT-116	colon:	n/a	n/a
27	SRF	chr11:8985644-8986811	MCF-7	breast:	n/a	n/a
28	CREB1	chr11:8985514-8986661	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr11:8984906-8986990	H1-neurons	neurons:	n/a	chr11:8986327-8986337 chr11:8986331-8986344 chr11:8986535-8986548 chr11:8985496-8985505
30	E2F6	chr11:8985491-8986697	A549	lung:	n/a	chr11:8986235-8986247 chr11:8985614-8985623
31	NR2C2	chr11:8985616-8986905	Hela-S3	cervix:	n/a	chr11:8986038-8986047
32	TCF12	chr11:8985464-8986921	ECC-1	luminal epithelium:	n/a	n/a
33	BCLAF1	chr11:8985541-8986700	GM12878	blood:	n/a	chr11:8985979-8985988 chr11:8985615-8985624
34	TAF1	chr11:8986434-8986743	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr11:8985725-8986984	K562	blood:	n/a	n/a
36	BACH1	chr11:8986088-8986653	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:8985130-8987001	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:8985506-8986906	GM12878	blood:	n/a	n/a
39	MAX	chr11:8985442-8986731	MCF-7	breast:	n/a	chr11:8986527-8986537 chr11:8985612-8985622 chr11:8986441-8986450
40	NFYB	chr11:8986208-8986603	Hela-S3	cervix:	n/a	n/a
41	BHLHE40	chr11:8985681-8986700	GM12878	blood:	n/a	n/a
42	CTCF	chr11:8986440-8986590	BJ	skin:	n/a	n/a
43	SIN3A	chr11:8985140-8986881	H1-hESC	embryonic stem cell:	n/a	chr11:8986328-8986337 chr11:8986580-8986593 chr11:8985564-8985575 chr11:8986331-8986344 chr11:8985630-8985638
44	CREB1	chr11:8985567-8986784	A549	lung:	n/a	n/a
45	SIN3AK20	chr11:8985482-8986824	MCF-7	breast:	n/a	n/a
46	ELF1	chr11:8985517-8986744	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr11:8985560-8986701	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr11:8985599-8987039	K562	blood:	n/a	n/a
49	POLR2A	chr11:8985287-8986986	HUVEC	blood vessel:	n/a	n/a
50	USF1	chr11:8986340-8986670	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8986506-8986556	HRE	kidney:	n/a
2	chr11:8986506-8986556	GM19239	blood:	n/a
3	chr11:8986506-8986556	HMEC	breast:	n/a
4	chr11:8986506-8986556	GM12892	blood:	n/a
5	chr11:8986506-8986556	AG04449	skin:	fetal
6	chr11:8986506-8986556	HCM	heart:	n/a
7	chr11:8986506-8986556	SK-N-SH_RA	brain:	n/a
8	chr11:8986506-8986556	HNPCEpiC	eye:	n/a
9	chr11:8986506-8986556	HL-60	blood:	n/a
10	chr11:8986506-8986556	SKMC	muscle:	n/a
11	chr11:8986506-8986556	A549	lung:	n/a
12	chr11:8986506-8986556	T-47D	breast:	n/a
13	chr11:8986506-8986556	NT2-D1	testis:	n/a
14	chr11:8986506-8986556	PFSK-1	brain:	n/a
15	chr11:8986506-8986556	NB4	blood:	n/a
16	chr11:8986506-8986556	HUVEC	blood vessel:	n/a
17	chr11:8986506-8986556	Caco-2	colon:	n/a
18	chr11:8986506-8986556	HRPEpiC	eye:	n/a
19	chr11:8986506-8986556	HepG2	liver:	n/a
20	chr11:8986506-8986556	CMK	blood:	n/a
21	chr11:8986506-8986556	HCPEpiC	choroid plexus:	n/a
22	chr11:8986506-8986556	PrEC	prostate:	n/a
23	chr11:8986506-8986556	BJ	skin:	n/a
24	chr11:8986506-8986556	AG04450	lung:	fetal
25	chr11:8986506-8986556	BE2_C	brain:	n/a
26	chr11:8986506-8986556	AoSMC	blood vessel:	n/a
27	chr11:8986506-8986556	NHBE	bronchial:	n/a
28	chr11:8986506-8986556	GM12878	blood:	n/a
29	chr11:8986506-8986556	RPTEC	kidney:	n/a
30	chr11:8986506-8986556	AG09319	gingival:	n/a
31	chr11:8986506-8986556	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:8986506-8986556	HCF	heart:	n/a
33	chr11:8986506-8986556	GM12891	blood:	n/a
34	chr11:8986506-8986556	HIPEpiC	eye:	n/a
35	chr11:8986506-8986556	HAEpiC	amniotic membrane:	n/a
36	chr11:8986506-8986556	HCT-116	colon:	n/a
37	chr11:8986506-8986556	SK-N-MC	brain:	n/a
38	chr11:8986506-8986556	HEEpiC	esophagus:	n/a
39	chr11:8986506-8986556	NHDF-neo	bronchial:	n/a
40	chr11:8986506-8986556	HEK293	kidney:	embryo
41	chr11:8986506-8986556	LNCaP	prostate:	n/a
42	chr11:8986506-8986556	MCF10A-Er-Src	breast:	n/a
43	chr11:8986506-8986556	GM06990	blood:	n/a
44	chr11:8986506-8986556	HRCEpiC	kidney:	n/a
45	chr11:8986506-8986556	AG09309	skin:	n/a
46	chr11:8986506-8986556	IMR90	lung:	fetal
47	chr11:8986506-8986556	SAEC	small airway:	n/a
48	chr11:8986506-8986556	PANC-1	pancreas:	n/a
49	chr11:8986506-8986556	AG10803	skin:	n/a
50	chr11:8986506-8986556	Jurkat	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8986015..8986534-chr16:278902..279566,2	Hela-S3	cervix:
2	chr11:8985678..8987470-chr11:8987575..8989239,2	K562	blood:
3	chr11:8983863..8986997-chr11:9158044..9162292,6	MCF-7	breast:
4	chr11:8985878..8986602-chr16:57481382..57481901,2	Hela-S3	cervix:
5	chr11:8986117..8986822-chr11:18655942..18656571,2	Hela-S3	cervix:
6	chr11:8986397..8986938-chr17:57915104..57915721,2	Hela-S3	cervix:
7	chr11:8699371..8704185-chr11:8984475..8986762,4	K562	blood:
8	chr11:8985177..8988020-chr11:9331940..9333549,2	K562	blood:
9	chr11:8984349..8987280-chr11:9024480..9026486,3	K562	blood:
10	chr11:8985597..8987070-chr11:62608525..62609394,5	Hela-S3	cervix:
11	chr11:8715208..8718003-chr11:8985259..8987676,2	K562	blood:
12	chr11:8986044..8986942-chr19:5690027..5690687,2	Hela-S3	cervix:
13	chr11:8703116..8705137-chr11:8986069..8987859,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKIP1-1	chr11:8986222-8986695	ENSG00000254860.1

No data

Variant related genes	Relation type
TMEM9B-AS1	TF binding region
TMEM9B	TF binding region
TMEM9B-AS1	CpG island
TMEM9B	CpG island
ENSG00000253973	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000175356	Chromatin interaction
ENSG00000254900	Chromatin interaction
ENSG00000007392	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000130255	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000005194	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000088682	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59489608	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr11:8982800-8987000	Active TSS	GM12878-XiMat	blood
2	chr11:8984200-8987000	Active TSS	Psoas Muscle	Psoas
3	chr11:8984400-8987000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:8984400-8987200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:8984600-8986600	Active TSS	K562	blood
6	chr11:8984600-8986800	Active TSS	Fetal Intestine Large	intestine
7	chr11:8984800-8986600	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr11:8984800-8986800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:8984800-8986800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:8984800-8986800	Active TSS	A549	lung
11	chr11:8984800-8987200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:8984800-8987200	Active TSS	NHLF	lung
13	chr11:8985000-8986600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:8985000-8986800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:8985000-8986800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:8985000-8986800	Active TSS	Aorta	Aorta
17	chr11:8985000-8987000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:8985000-8987000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr11:8985000-8987000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:8985000-8987000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:8985000-8987000	Active TSS	Esophagus	oesophagus
22	chr11:8985000-8987000	Active TSS	Fetal Kidney	kidney
23	chr11:8985000-8987000	Active TSS	Lung	lung
24	chr11:8985000-8987200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:8985000-8987200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:8985200-8986600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:8985200-8986600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:8985200-8986600	Active TSS	Colon Smooth Muscle	Colon
29	chr11:8985200-8986600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr11:8985200-8986800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:8985200-8986800	Active TSS	Fetal Intestine Small	intestine
32	chr11:8985200-8986800	Active TSS	Gastric	stomach
33	chr11:8985200-8986800	Active TSS	Ovary	ovary
34	chr11:8985200-8987000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:8985200-8987000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:8985200-8987000	Active TSS	Left Ventricle	heart
37	chr11:8985200-8987000	Active TSS	Pancreas	Pancrea
38	chr11:8985200-8987000	Active TSS	Small Intestine	intestine
39	chr11:8985200-8987000	Active TSS	NHDF-Ad	bronchial
40	chr11:8985200-8987200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr11:8985200-8987200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:8985200-8987200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:8985200-8987200	Active TSS	HSMM	muscle
44	chr11:8985400-8986600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:8985400-8986600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:8985400-8986600	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:8985400-8986600	Active TSS	Primary B cells from peripheral blood	blood
48	chr11:8985400-8986600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:8985400-8986600	Active TSS	Liver	Liver
50	chr11:8985400-8986600	Active TSS	Brain Anterior Caudate	brain

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