Variant report

Variant	rs80197162
Chromosome Location	chr7:152458853-152458854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:151814006..151817004-chr7:152456983..152459909,2	K562	blood:
2	chr7:152443156..152446125-chr7:152457371..152459756,3	K562	blood:
3	chr7:152159214..152163397-chr7:152455316..152459065,6	MCF-7	breast:
4	chr7:152159418..152164481-chr7:152455770..152458995,5	K562	blood:
5	chr7:152372618..152374953-chr7:152456032..152458958,3	MCF-7	breast:
6	chr7:152131214..152133795-chr7:152457561..152460908,3	K562	blood:
7	chr7:152442786..152449495-chr7:152455161..152460241,10	K562	blood:
8	chr7:152358838..152361607-chr7:152458753..152460485,2	K562	blood:
9	chr7:152350020..152352895-chr7:152457250..152459622,2	K562	blood:
10	chr7:151289994..151291527-chr7:152457246..152459829,2	K562	blood:
11	chr7:152457650..152460498-chr7:152461318..152464362,6	K562	blood:
12	chr7:152272316..152275315-chr7:152457417..152459478,2	K562	blood:
13	chr7:152371235..152373485-chr7:152456876..152459275,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196584	Chromatin interaction
ENSG00000261455	Chromatin interaction
ENSG00000214003	Chromatin interaction
ENSG00000055609	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv966912	chr7:152458603-152467072	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152457400-152459000	Flanking Active TSS	HMEC	breast
2	chr7:152457400-152459200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:152457400-152459200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:152457600-152459000	Enhancers	Small Intestine	intestine
5	chr7:152457600-152459200	Flanking Active TSS	Osteobl	bone
6	chr7:152457800-152459000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:152457800-152459000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:152457800-152459000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:152457800-152459000	Enhancers	Pancreas	Pancrea
10	chr7:152457800-152459200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:152457800-152459200	Transcr. at gene 5' and 3'	K562	blood
12	chr7:152457800-152459200	Flanking Active TSS	NH-A	brain
13	chr7:152457800-152459400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:152457800-152459400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:152457800-152459400	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:152457800-152471000	Weak transcription	Gastric	stomach
17	chr7:152458000-152459000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:152458000-152459000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:152458000-152459000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:152458000-152459000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:152458000-152459000	Enhancers	Psoas Muscle	Psoas
22	chr7:152458000-152459000	Enhancers	HSMMtube	muscle
23	chr7:152458000-152459200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:152458000-152459400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:152458000-152459400	Enhancers	NHDF-Ad	bronchial
26	chr7:152458000-152459600	Enhancers	Fetal Heart	heart
27	chr7:152458200-152459000	Enhancers	Primary B cells from cord blood	blood
28	chr7:152458200-152459000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:152458200-152459000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:152458200-152459000	Enhancers	Liver	Liver
31	chr7:152458200-152459000	Weak transcription	Brain Substantia Nigra	brain
32	chr7:152458200-152459000	Flanking Active TSS	Fetal Brain Male	brain
33	chr7:152458200-152459200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:152458200-152459400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:152458200-152459800	Enhancers	Brain Angular Gyrus	brain
36	chr7:152458400-152459000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:152458400-152459000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:152458400-152459000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:152458400-152459000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:152458400-152459000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:152458400-152459000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:152458400-152459000	Enhancers	HSMM	muscle
43	chr7:152458400-152459200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:152458400-152459200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:152458400-152459200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:152458400-152459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:152458400-152459200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:152458400-152459200	Active TSS	Brain Anterior Caudate	brain
49	chr7:152458400-152459200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:152458400-152459200	Enhancers	Skeletal Muscle Male	skeletal muscle

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