Variant report

Variant	rs10208953
Chromosome Location	chr2:234356807-234356808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234356284..234357802-chr2:234598772..234601558,2	MCF-7	breast:
2	chr2:234356803..234357518-chr2:234620184..234620760,2	MCF-7	breast:
3	chr2:234356161..234358499-chr2:234388405..234391243,2	MCF-7	breast:
4	chr2:234355853..234357392-chr2:234601737..234604100,2	MCF-7	breast:
5	chr2:234308870..234309431-chr2:234356782..234357614,2	MCF-7	breast:
6	chr2:234356800..234359439-chr2:234362085..234364639,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13385018	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13395023	0.82[EUR][1000 genomes]
rs13401136	0.87[EUR][1000 genomes]
rs13404501	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405703	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13408490	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17864670	1.00[CHD][hapmap]
rs1866878	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs4129945	1.00[TSI][hapmap]
rs73117574	1.00[EUR][1000 genomes]
rs7567008	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:234338000-234358000	Weak transcription	NH-A	brain
4	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:234338800-234360800	Weak transcription	HMEC	breast
6	chr2:234339200-234360000	Weak transcription	K562	blood
7	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
8	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
9	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
12	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:234343400-234357400	Strong transcription	Fetal Intestine Small	intestine
15	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:234343600-234357600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:234343600-234359400	Strong transcription	Lung	lung
18	chr2:234344000-234357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
23	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:234345200-234357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:234345800-234357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:234346200-234358200	Strong transcription	Spleen	Spleen
28	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:234346800-234358000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:234347000-234357400	Weak transcription	Fetal Lung	lung
31	chr2:234347000-234359600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:234347200-234358000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:234348400-234360800	Weak transcription	Osteobl	bone
35	chr2:234348400-234362800	Weak transcription	Right Atrium	heart
36	chr2:234348400-234363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:234350200-234360000	Genic enhancers	A549	lung
38	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
39	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
40	chr2:234351600-234361600	Strong transcription	HSMMtube	muscle
41	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:234352200-234358200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:234352400-234358000	Weak transcription	Fetal Brain Male	brain
44	chr2:234352400-234362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
46	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:234352600-234357200	Strong transcription	Fetal Thymus	thymus
49	chr2:234352600-234357200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:234352600-234357400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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