Variant report

Variant	rs710833
Chromosome Location	chr4:87995315-87995316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87991629..87993752-chr4:87994519..87997259,3	K562	blood:
2	chr4:87856199..87857891-chr4:87995074..87997725,3	MCF-7	breast:
3	chr4:87880122..87883120-chr4:87994863..87997796,2	K562	blood:
4	chr4:87927884..87929390-chr4:87993723..87995329,2	K562	blood:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10006308	0.81[YRI][hapmap]
rs17012389	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2869641	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87982600-87999600	Weak transcription	K562	blood
2	chr4:87990200-87999400	Weak transcription	Gastric	stomach
3	chr4:87990200-87999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:87990200-88008000	Weak transcription	Spleen	Spleen
5	chr4:87990400-87998400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:87990800-88000200	Weak transcription	Fetal Brain Female	brain
7	chr4:87992000-87995600	Enhancers	Fetal Intestine Large	intestine
8	chr4:87992000-87996200	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:87992400-87995600	Enhancers	Placenta	Placenta
10	chr4:87993600-87995600	Enhancers	Fetal Intestine Small	intestine
11	chr4:87993800-87995600	Enhancers	Colonic Mucosa	Colon
12	chr4:87993800-87995600	Enhancers	Right Ventricle	heart
13	chr4:87993800-87995600	Enhancers	HMEC	breast
14	chr4:87993800-87995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:87993800-87995800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:87993800-87995800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:87993800-87995800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:87994000-87995400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:87994000-87995600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:87994000-87995600	Enhancers	Stomach Mucosa	stomach
21	chr4:87994000-87995800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:87994000-87996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:87994200-87995400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:87994200-87995600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:87994200-87995600	Enhancers	Fetal Kidney	kidney
26	chr4:87994200-87995800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr4:87994200-87996000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:87994200-87996000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:87994200-87996000	Enhancers	Fetal Lung	lung
30	chr4:87994200-87997000	Enhancers	Fetal Heart	heart
31	chr4:87994400-87995400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:87994400-87995400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr4:87994400-87995400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr4:87994400-87995400	Flanking Active TSS	NHEK	skin
35	chr4:87994400-87995600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:87994400-87995600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr4:87994400-87995600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:87994400-87995600	Enhancers	Brain Germinal Matrix	brain
39	chr4:87994400-87995600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr4:87994400-87995600	Enhancers	Fetal Stomach	stomach
41	chr4:87994400-87995600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:87994600-87995400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:87994600-87995400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr4:87994600-87995600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:87994600-87995600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:87994600-87995600	Enhancers	Fetal Thymus	thymus
47	chr4:87994600-87995800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:87994600-87995800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:87994600-87995800	Enhancers	HSMM	muscle
50	chr4:87994600-87996000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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