Variant report

Variant	rs531714619
Chromosome Location	chr9:6526080-6526081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv892162	chr9:6480005-6788085	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv831498	chr9:6496021-6689728	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	esv2761298	chr9:6505897-6544766	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv934176	chr9:6517535-6644738	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv2761484	chr9:6518374-6527209	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv892163	chr9:6523056-6632061	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1025627	chr9:6523056-6648098	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv2752308	chr9:6523060-6899149	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
17	nsv613206	chr9:6525753-6686738	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6498800-6554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:6499000-6528400	Weak transcription	Pancreas	Pancrea
3	chr9:6506400-6530600	Weak transcription	Gastric	stomach
4	chr9:6507000-6534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:6508400-6526400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:6508400-6526600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr9:6508400-6528200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:6508400-6530600	Weak transcription	Left Ventricle	heart
9	chr9:6508600-6537800	Weak transcription	HMEC	breast
10	chr9:6508600-6538200	Weak transcription	NHEK	skin
11	chr9:6508800-6526600	Weak transcription	HSMM	muscle
12	chr9:6509800-6530200	Weak transcription	A549	lung
13	chr9:6510400-6558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:6510600-6543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:6511400-6526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:6512200-6528800	Weak transcription	NHLF	lung
17	chr9:6517600-6528000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:6518000-6530400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:6522000-6528400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:6522000-6549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:6522400-6530400	Weak transcription	NHDF-Ad	bronchial
22	chr9:6522400-6531600	Weak transcription	GM12878-XiMat	blood
23	chr9:6523000-6538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:6523200-6526600	Weak transcription	Primary B cells from cord blood	blood
25	chr9:6523200-6526600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:6523400-6532200	Weak transcription	Aorta	Aorta
27	chr9:6523600-6529600	Weak transcription	Liver	Liver
28	chr9:6523600-6530400	Weak transcription	HUVEC	blood vessel
29	chr9:6523800-6527200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:6524000-6530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:6525000-6526200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:6525000-6526200	Enhancers	HSMMtube	muscle
33	chr9:6525000-6526400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:6525000-6527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:6525000-6527200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:6525200-6526200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:6525400-6530400	Weak transcription	Ovary	ovary
38	chr9:6525600-6526200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:6525600-6527400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:6525600-6529600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:6525800-6526400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:6525800-6530200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:6526000-6526200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:6526000-6526200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:6526000-6530200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr9:6526000-6530200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:6526000-6530200	Weak transcription	Osteobl	bone
48	chr9:6526000-6538600	Weak transcription	NH-A	brain

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