Variant report

Variant	rs556978215
Chromosome Location	chr11:119599833-119599834
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	MYC	chr11:119599634-119600333	MCF10A-Er-Src	breast:	n/a	n/a
2	HMGN3	chr11:119599614-119600204	K562	blood:	n/a	n/a
3	MAX	chr11:119599784-119600369	A549	lung:	n/a	n/a
4	POLR2A	chr11:119599659-119600075	SK-N-SH	brain:	n/a	n/a
5	TAF7	chr11:119599733-119600336	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr11:119599751-119600381	HepG2	liver:	n/a	n/a
7	RCOR1	chr11:119599713-119600254	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr11:119599738-119600600	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:119599640-119600017	SK-N-SH	brain:	n/a	n/a
10	MAX	chr11:119599674-119600406	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:119599313-119600284	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:119599650-119600333	HEK293	kidney:	n/a	n/a
13	SMC3	chr11:119599829-119600563	GM12878	blood:	n/a	chr11:119599984-119599994 chr11:119600192-119600206
14	CCNT2	chr11:119599650-119600370	K562	blood:	n/a	chr11:119599964-119599973
15	POLR2A	chr11:119599767-119599993	HepG2	liver:	n/a	n/a
16	PML	chr11:119599707-119600274	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:119599548-119600166	HepG2	liver:	n/a	n/a
18	MAX	chr11:119599396-119600501	A549	lung:	n/a	n/a
19	POLR2A	chr11:119599702-119600056	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:119599496-119601082	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:119599551-119600390	A549	lung:	n/a	n/a
22	TCF12	chr11:119599661-119600505	ECC-1	luminal epithelium:	n/a	n/a
23	YY1	chr11:119599764-119600038	HCT-116	colon:	n/a	chr11:119599788-119599802
24	POLR2A	chr11:119599645-119600198	GM12878	blood:	n/a	n/a
25	RAD21	chr11:119599805-119600314	GM12878	blood:	n/a	chr11:119599960-119599970 chr11:119600188-119600207
26	PML	chr11:119599728-119600055	MCF-7	breast:	n/a	n/a
27	GATA3	chr11:119599740-119600385	T-47D	breast:	n/a	n/a
28	POLR2A	chr11:119599731-119599973	A549	lung:	n/a	n/a
29	RCOR1	chr11:119599410-119600576	IMR90	lung:	n/a	n/a
30	TBP	chr11:119599761-119600078	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:119599477-119601050	GM18951	blood:	n/a	n/a
32	BHLHE40	chr11:119599364-119600490	GM12878	blood:	n/a	chr11:119600069-119600085 chr11:119599385-119599401 chr11:119599847-119599863
33	YY1	chr11:119599793-119600365	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr11:119599708-119600226	GM12878	blood:	n/a	n/a
35	CEBPD	chr11:119599724-119600027	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:119599613-119600327	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr11:119599720-119600299	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:119599592-119600219	A549	lung:	n/a	n/a
39	ELF1	chr11:119599789-119600387	GM12878	blood:	n/a	n/a
40	YY1	chr11:119599791-119600069	K562	blood:	n/a	n/a
41	UBTF	chr11:119599494-119600453	K562	blood:	n/a	n/a
42	MAX	chr11:119598856-119600380	NB4	blood:	n/a	n/a
43	POLR2A	chr11:119599618-119600229	HepG2	liver:	n/a	n/a
44	TAF1	chr11:119599777-119600317	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:119599796-119600466	K562	blood:	n/a	chr11:119600191-119600207 chr11:119600185-119600206
46	MAX	chr11:119599438-119600466	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:119599662-119601056	HCT-116	colon:	n/a	n/a
48	POLR2A	chr11:119599626-119600109	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr11:119599616-119600203	A549	lung:	n/a	n/a
50	POLR2A	chr11:119598115-119600381	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119599752..119600308-chr21:34914463..34915203,2	NB4	blood:
2	chr11:119557449..119558968-chr11:119599043..119600568,2	MCF-7	breast:
3	chr11:119598280..119601010-chr11:119990751..119994590,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254854	TF binding region
PVRL1	TF binding region
ENSG00000110400	Chromatin interaction
ENSG00000159140	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000159131	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3364090	chr11:119598267-119601315	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr11:119596600-119600400	Active TSS	Esophagus	oesophagus
2	chr11:119597200-119600400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:119597200-119600400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:119597200-119600400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:119597200-119600800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:119597200-119601000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:119597200-119601000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:119597400-119600600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:119597400-119600800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:119597400-119601000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:119597400-119601000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:119597600-119601000	Active TSS	Fetal Kidney	kidney
13	chr11:119597800-119600400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:119597800-119600400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:119597800-119600400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:119597800-119600400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:119597800-119600400	Active TSS	HMEC	breast
18	chr11:119597800-119600400	Active TSS	NHEK	skin
19	chr11:119597800-119600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:119597800-119600800	Active TSS	Fetal Brain Female	brain
21	chr11:119597800-119601000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:119597800-119601000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:119598000-119600400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:119598000-119600400	Active TSS	Brain Anterior Caudate	brain
25	chr11:119598000-119600400	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:119598000-119600400	Active TSS	Fetal Intestine Small	intestine
27	chr11:119598000-119600600	Active TSS	Small Intestine	intestine
28	chr11:119598000-119600600	Active TSS	HSMMtube	muscle
29	chr11:119598000-119600800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:119598000-119600800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:119598000-119600800	Active TSS	A549	lung
32	chr11:119598000-119600800	Active TSS	Hela-S3	cervix
33	chr11:119598000-119601200	Active TSS	Right Atrium	heart
34	chr11:119598200-119600200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:119598200-119600400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:119598200-119600400	Active TSS	Pancreas	Pancrea
37	chr11:119598200-119600600	Active TSS	Gastric	stomach
38	chr11:119598200-119600800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:119598200-119600800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:119598200-119600800	Active TSS	Brain Substantia Nigra	brain
41	chr11:119598200-119601000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:119598200-119601000	Active TSS	Aorta	Aorta
43	chr11:119598400-119600200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:119598400-119600400	Active TSS	HepG2	liver
45	chr11:119598400-119600400	Active TSS	HSMM	muscle
46	chr11:119598400-119600600	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr11:119598400-119600800	Active TSS	Brain Angular Gyrus	brain
48	chr11:119598400-119601000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:119598400-119601000	Active TSS	Psoas Muscle	Psoas
50	chr11:119598400-119601200	Active TSS	NHDF-Ad	bronchial

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