Variant report

Variant	rs117197062
Chromosome Location	chr7:150691898-150691899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150595209..150595856-chr7:150691392..150692242,2	K562	blood:
2	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
3	chr7:150690495..150692157-chr7:150930437..150932550,2	K562	blood:
4	chr7:150691223..150692147-chr7:150705540..150706494,2	K562	blood:
5	chr7:150690578..150692213-chr7:150720359..150721973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164885	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
11	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
12	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
14	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
16	esv3392470	chr7:150691544-150694892	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3405396	chr7:150691819-150695017	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150686200-150698000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:150688800-150697200	Weak transcription	Pancreas	Pancrea
3	chr7:150689600-150692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:150689800-150692600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:150689800-150692600	Flanking Active TSS	Placenta	Placenta
6	chr7:150690000-150692600	Enhancers	Fetal Heart	heart
7	chr7:150690000-150692800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150690200-150692200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:150690200-150692400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:150690200-150692600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:150690400-150692400	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:150690400-150692600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:150690400-150692800	Enhancers	Fetal Lung	lung
14	chr7:150690800-150692000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150690800-150692000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:150690800-150692200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:150690800-150692400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:150690800-150692600	Flanking Active TSS	HUVEC	blood vessel
19	chr7:150691000-150692000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150691000-150692000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150691000-150692000	Active TSS	Duodenum Mucosa	Duodenum
22	chr7:150691000-150692200	Active TSS	Liver	Liver
23	chr7:150691000-150692200	Flanking Active TSS	Fetal Stomach	stomach
24	chr7:150691000-150692400	Active TSS	Brain Anterior Caudate	brain
25	chr7:150691000-150692400	Active TSS	Psoas Muscle	Psoas
26	chr7:150691000-150692400	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:150691000-150692600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:150691200-150692000	Active TSS	Lung	lung
29	chr7:150691200-150692000	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:150691200-150692400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150691200-150692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:150691200-150692600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:150691200-150692800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:150691200-150693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150691400-150692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:150691400-150692200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr7:150691400-150692200	Flanking Active TSS	Right Atrium	heart
38	chr7:150691400-150692200	Flanking Active TSS	Right Ventricle	heart
39	chr7:150691400-150692400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150691400-150692400	Enhancers	Fetal Intestine Large	intestine
41	chr7:150691400-150692400	Enhancers	Fetal Intestine Small	intestine
42	chr7:150691400-150692400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:150691400-150692600	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr7:150691400-150692600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr7:150691400-150694000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:150691600-150692000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:150691600-150692000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:150691600-150692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:150691600-150692000	Enhancers	Colonic Mucosa	Colon
50	chr7:150691600-150692000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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