Variant report

Variant	rs11981707
Chromosome Location	chr7:100477233-100477234
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	POLR2A	chr7:100477013-100477900	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100398804..100401512-chr7:100476210..100478233,3	MCF-7	breast:

Variant related genes	Relation type
SRRT	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17228581	0.82[AFR][1000 genomes]
rs17234989	0.82[AFR][1000 genomes]
rs221775	1.00[CHD][hapmap]
rs35246066	0.91[AFR][1000 genomes]
rs35388175	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr7:100473600-100477400	Weak transcription	Aorta	Aorta
2	chr7:100473600-100478000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100473800-100477400	Weak transcription	Esophagus	oesophagus
5	chr7:100473800-100477800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr7:100473800-100479000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100473800-100479200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
9	chr7:100474000-100477800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:100474000-100478600	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr7:100474000-100479000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:100474200-100478400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:100474200-100478400	Weak transcription	Psoas Muscle	Psoas
14	chr7:100474400-100478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:100474400-100480000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100474600-100477400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:100474600-100477400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100474600-100477400	Weak transcription	Pancreas	Pancrea
19	chr7:100474600-100477600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:100474600-100478000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:100474600-100478000	Genic enhancers	Brain Hippocampus Middle	brain
22	chr7:100474600-100478000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:100474600-100478400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:100474600-100478400	Weak transcription	Colonic Mucosa	Colon
25	chr7:100474600-100478600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:100474600-100480600	Weak transcription	Stomach Mucosa	stomach
27	chr7:100474600-100480800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:100474600-100482800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
30	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
31	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:100474800-100477400	Genic enhancers	Brain Germinal Matrix	brain
37	chr7:100474800-100477400	Weak transcription	Gastric	stomach
38	chr7:100474800-100477600	Weak transcription	Primary B cells from cord blood	blood
39	chr7:100474800-100477600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:100474800-100477600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:100474800-100477800	Genic enhancers	K562	blood
42	chr7:100474800-100478000	Genic enhancers	Dnd41	blood
43	chr7:100474800-100478800	Weak transcription	NHDF-Ad	bronchial
44	chr7:100474800-100479000	Weak transcription	Small Intestine	intestine
45	chr7:100474800-100479200	Weak transcription	HSMMtube	muscle
46	chr7:100474800-100482800	Strong transcription	Fetal Intestine Small	intestine
47	chr7:100474800-100484000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:100474800-100484400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:100474800-100484600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr7:100474800-100484800	Strong transcription	A549	lung

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