Variant report

Variant	rs181940816
Chromosome Location	chr11:57298612-57298613
allele	G/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	STAT5A	chr11:57298548-57299097	K562	blood:	n/a	n/a
2	POLR2A	chr11:57298463-57298634	A549	lung:	n/a	n/a
3	SPI1	chr11:57297984-57298663	HL-60	blood:	n/a	chr11:57298352-57298359
4	TCF12	chr11:57297998-57298861	ECC-1	luminal epithelium:	n/a	n/a
5	BCLAF1	chr11:57298032-57298928	K562	blood:	n/a	n/a
6	PML	chr11:57297868-57299388	K562	blood:	n/a	n/a
7	MAX	chr11:57297708-57298799	ECC-1	luminal epithelium:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
8	MXI1	chr11:57297693-57298783	HepG2	liver:	n/a	chr11:57298222-57298231
9	POLR2A	chr11:57297465-57298915	SK-N-MC	brain:	n/a	n/a
10	SP2	chr11:57298046-57298643	K562	blood:	n/a	n/a
11	POLR2A	chr11:57297989-57298739	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:57297690-57298849	GM12892	blood:	n/a	n/a
13	ESRRA	chr11:57297365-57299876	GM12878	blood:	n/a	chr11:57297540-57297549 chr11:57299148-57299167 chr11:57298811-57298825
14	SMC3	chr11:57298378-57298732	K562	blood:	n/a	n/a
15	CEBPB	chr11:57298165-57298634	Hela-S3	cervix:	n/a	n/a
16	TBP	chr11:57297740-57298696	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr11:57297541-57298943	GM12878	blood:	n/a	n/a
18	RAD21	chr11:57298242-57299041	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:57297932-57298654	K562	blood:	n/a	n/a
20	HA-E2F1	chr11:57297973-57298716	MCF-7	breast:	n/a	chr11:57298337-57298347
21	HCFC1	chr11:57297590-57299205	Hela-S3	cervix:	n/a	n/a
22	NFYA	chr11:57298230-57298675	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr11:57297356-57299461	IMR90	lung:	n/a	n/a
24	RUNX3	chr11:57297714-57298698	GM12878	blood:	n/a	n/a
25	SP2	chr11:57297778-57298789	HepG2	liver:	n/a	n/a
26	ELF1	chr11:57297884-57298613	A549	lung:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
27	MYC	chr11:57297270-57299072	A549	lung:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
28	POLR2A	chr11:57297566-57298714	GM12892	blood:	n/a	n/a
29	RCOR1	chr11:57297682-57298984	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:57297984-57298700	GM12891	blood:	n/a	n/a
31	NFIC	chr11:57297920-57298842	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:57297789-57299029	K562	blood:	n/a	n/a
33	ELF1	chr11:57297627-57298924	HCT-116	colon:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
34	ELK1	chr11:57297905-57298729	GM12878	blood:	n/a	n/a
35	CREB1	chr11:57298068-57298622	A549	lung:	n/a	n/a
36	MAX	chr11:57297851-57298637	MCF-7	breast:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
37	MYC	chr11:57297795-57299112	K562	blood:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
38	ELF1	chr11:57297858-57298727	SK-N-SH	brain:	n/a	chr11:57298231-57298244 chr11:57298233-57298242 chr11:57298232-57298243
39	MAX	chr11:57298023-57298733	A549	lung:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
40	GABPA	chr11:57297858-57298652	MCF-7	breast:	n/a	n/a
41	MAX	chr11:57297927-57298737	MCF-7	breast:	n/a	chr11:57298220-57298231 chr11:57298221-57298230 chr11:57298221-57298231 chr11:57298219-57298229 chr11:57298222-57298229
42	TEAD4	chr11:57298010-57299179	K562	blood:	n/a	n/a
43	PBX3	chr11:57298104-57298790	SK-N-SH	brain:	n/a	n/a
44	BACH1	chr11:57298602-57298902	K562	blood:	n/a	n/a
45	CEBPD	chr11:57298593-57299227	K562	blood:	n/a	n/a
46	POLR2A	chr11:57297837-57298734	U87	brain:	n/a	n/a
47	POLR2A	chr11:57297396-57298757	GM12892	blood:	n/a	n/a
48	TCF12	chr11:57297979-57298878	ECC-1	luminal epithelium:	n/a	n/a
49	USF1	chr11:57297903-57298658	ECC-1	luminal epithelium:	n/a	n/a
50	PML	chr11:57297451-57299010	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57298594-57298644	HRPEpiC	eye:	n/a
2	chr11:57298594-57298644	ECC-1	luminal epithelium:	n/a
3	chr11:57298594-57298644	HCPEpiC	choroid plexus:	n/a
4	chr11:57298594-57298644	IMR90	lung:	fetal
5	chr11:57298594-57298644	PANC-1	pancreas:	n/a
6	chr11:57298594-57298644	NHDF-neo	bronchial:	n/a
7	chr11:57298594-57298644	NT2-D1	testis:	n/a
8	chr11:57298594-57298644	HL-60	blood:	n/a
9	chr11:57298594-57298644	HCM	heart:	n/a
10	chr11:57298594-57298644	H1-hESC	embryonic stem cell:	embryo
11	chr11:57298594-57298644	HUVEC	blood vessel:	n/a
12	chr11:57298594-57298644	AG09309	skin:	n/a
13	chr11:57298594-57298644	HIPEpiC	eye:	n/a
14	chr11:57298594-57298644	Hepatocyte	liver:	n/a
15	chr11:57298594-57298644	ProgFib	skin:	n/a
16	chr11:57298594-57298644	Caco-2	colon:	n/a
17	chr11:57298594-57298644	SK-N-MC	brain:	n/a
18	chr11:57298594-57298644	K562	blood:	n/a
19	chr11:57298594-57298644	GM06990	blood:	n/a
20	chr11:57298594-57298644	HCF	heart:	n/a
21	chr11:57298594-57298644	A549	lung:	n/a
22	chr11:57298594-57298644	T-47D	breast:	n/a
23	chr11:57298594-57298644	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:57298594-57298644	HEEpiC	esophagus:	n/a
25	chr11:57298594-57298644	NH-A	brain:	n/a
26	chr11:57298594-57298644	NB4	blood:	n/a
27	chr11:57298594-57298644	ovcar-3	ovarian:	n/a
28	chr11:57298594-57298644	HMEC	breast:	n/a
29	chr11:57298594-57298644	AG09319	gingival:	n/a
30	chr11:57298594-57298644	AoSMC	blood vessel:	n/a
31	chr11:57298594-57298644	PrEC	prostate:	n/a
32	chr11:57298594-57298644	HRCEpiC	kidney:	n/a
33	chr11:57298594-57298644	HRE	kidney:	n/a
34	chr11:57298594-57298644	MCF-7	breast:	n/a
35	chr11:57298594-57298644	HCT-116	colon:	n/a
36	chr11:57298594-57298644	SK-N-SH	brain:	n/a
37	chr11:57298594-57298644	HepG2	liver:	n/a
38	chr11:57298594-57298644	Hela-S3	cervix:	n/a
39	chr11:57298594-57298644	GM12891	blood:	n/a
40	chr11:57298594-57298644	HNPCEpiC	eye:	n/a
41	chr11:57298594-57298644	SAEC	small airway:	n/a
42	chr11:57298594-57298644	NHBE	bronchial:	n/a
43	chr11:57298594-57298644	CMK	blood:	n/a
44	chr11:57298594-57298644	U87	brain:	n/a
45	chr11:57298594-57298644	GM19239	blood:	n/a
46	chr11:57298594-57298644	AG04449	skin:	fetal
47	chr11:57298594-57298644	PFSK-1	brain:	n/a
48	chr11:57298594-57298644	AG10803	skin:	n/a
49	chr11:57298594-57298644	SK-N-SH_RA	brain:	n/a
50	chr11:57298594-57298644	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
2	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
3	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
4	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
5	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
6	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
7	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
8	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
9	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
10	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:

Variant related genes	Relation type
TIMM10	TF binding region
TIMM10	CpG island
ENSG00000254979	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000214872	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000213593	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers 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	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr11:57297200-57299000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:57297200-57299200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:57297200-57299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:57297200-57299200	Flanking Active TSS	HUVEC	blood vessel
6	chr11:57297400-57299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:57297400-57299000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:57297400-57299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:57297400-57299200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:57297400-57299400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:57297400-57299400	Active TSS	A549	lung
12	chr11:57297600-57298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:57297600-57298800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:57297600-57298800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:57297600-57298800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:57297600-57298800	Active TSS	Aorta	Aorta
17	chr11:57297600-57299000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:57297600-57299000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:57297600-57299000	Bivalent/Poised TSS	HepG2	liver
20	chr11:57297600-57299000	Active TSS	K562	blood
21	chr11:57297600-57299200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:57297600-57299200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:57297600-57299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:57297600-57299200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:57297600-57299400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:57297600-57299400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:57297800-57298800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:57297800-57298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:57297800-57298800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:57297800-57298800	Active TSS	Brain Anterior Caudate	brain
31	chr11:57297800-57298800	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:57297800-57298800	Active TSS	Brain Germinal Matrix	brain
33	chr11:57297800-57298800	Active TSS	Brain Hippocampus Middle	brain
34	chr11:57297800-57298800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:57297800-57298800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:57297800-57298800	Active TSS	Fetal Intestine Small	intestine
37	chr11:57297800-57298800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:57297800-57298800	Active TSS	Small Intestine	intestine
39	chr11:57297800-57298800	Active TSS	Thymus	Thymus
40	chr11:57297800-57298800	Active TSS	GM12878-XiMat	blood
41	chr11:57297800-57298800	Active TSS	HMEC	breast
42	chr11:57297800-57298800	Active TSS	HSMM	muscle
43	chr11:57297800-57298800	Active TSS	NH-A	brain
44	chr11:57297800-57298800	Active TSS	NHDF-Ad	bronchial
45	chr11:57297800-57298800	Active TSS	NHEK	skin
46	chr11:57297800-57299000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr11:57297800-57299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:57297800-57299000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:57297800-57299000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:57297800-57299000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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