Variant report

Variant	rs6990915
Chromosome Location	chr8:61863519-61863520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61525760..61527520-chr8:61863383..61865720,2	K562	blood:
2	chr8:61853213..61856894-chr8:61860542..61864181,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10086776	0.91[ASN][1000 genomes]
rs10104895	0.85[ASN][1000 genomes]
rs10109249	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110018	1.00[ASN][1000 genomes]
rs11985124	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335258	1.00[ASN][1000 genomes]
rs28583647	1.00[ASN][1000 genomes]
rs28688155	1.00[ASN][1000 genomes]
rs6982130	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6987075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001966	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652592	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1008507	chr8:61857652-61872012	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1011118	chr8:61858187-61869780	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1004207	chr8:61858188-61869664	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv991927	chr8:61858213-61867356	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv521032	chr8:61858213-61867595	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1008761	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv465695	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv465696	chr8:61858213-61869649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv611423	chr8:61858213-61869649	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv611424	chr8:61858213-61870447	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2764117	chr8:61858213-61879683	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3357776	chr8:61861811-61864920	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
2	chr8:61857200-61864000	Enhancers	Primary T cells from cord blood	blood
3	chr8:61858000-61863600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:61858200-61864200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:61859800-61865800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:61860000-61863600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:61860000-61864000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:61860000-61864200	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:61860200-61866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:61860400-61863800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:61860400-61866000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:61860600-61863600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:61860600-61866000	Enhancers	HMEC	breast
14	chr8:61860600-61866200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:61860600-61866200	Enhancers	NHDF-Ad	bronchial
16	chr8:61860800-61863600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:61860800-61864800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:61860800-61866600	Enhancers	NHLF	lung
19	chr8:61861000-61864000	Enhancers	HUVEC	blood vessel
20	chr8:61861000-61864600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:61861000-61866000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:61861000-61866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:61861200-61864000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:61861200-61864000	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:61861400-61863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:61861600-61863600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr8:61861600-61864000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:61862000-61863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:61862000-61863800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:61862200-61863600	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:61862200-61863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:61862200-61863800	Enhancers	Stomach Mucosa	stomach
33	chr8:61862400-61863600	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:61862400-61863600	Enhancers	Thymus	Thymus
35	chr8:61862400-61864600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:61862600-61863600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:61862600-61863600	Flanking Active TSS	HSMM	muscle
38	chr8:61862600-61864000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:61862800-61863600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:61862800-61863600	Enhancers	Lung	lung
41	chr8:61862800-61863600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr8:61862800-61863800	Enhancers	Spleen	Spleen
43	chr8:61862800-61873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:61862800-61879200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:61862800-61879600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:61863000-61863800	Enhancers	Right Ventricle	heart
47	chr8:61863000-61864600	Weak transcription	NHEK	skin
48	chr8:61863000-61865000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:61863000-61866000	Enhancers	HSMMtube	muscle
50	chr8:61863000-61874000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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