Variant report

Variant	rs1370499
Chromosome Location	chr2:153478642-153478643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153031094..153033506-chr2:153477757..153480086,2	K562	blood:
2	chr2:153474747..153476938-chr2:153478477..153480006,2	MCF-7	breast:
3	chr2:153477237..153479391-chr2:153483533..153486073,3	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10497113	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931263	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931271	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931279	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1135617	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674911	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676069	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11694512	1.00[ASN][1000 genomes]
rs11901227	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12475871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478681	1.00[ASN][1000 genomes]
rs12693429	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12989903	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12990935	1.00[CHB][hapmap]
rs12995388	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999331	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003670	0.91[EUR][1000 genomes]
rs13006652	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13014141	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017131	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022436	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023779	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023975	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16831440	0.86[EUR][1000 genomes]
rs16831456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328776	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400456	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400938	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400952	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400980	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2083097	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346551	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34199006	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34454505	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34469468	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34619076	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34775858	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35002744	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35421285	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35754252	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35894330	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937874	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36107565	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36122595	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811568	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811569	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575677	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434172	0.90[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66492085	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66849546	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728189	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417232	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417235	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591590	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7598878	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
4	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:153464600-153480000	Strong transcription	NHEK	skin
8	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153468000-153480000	Strong transcription	HepG2	liver
10	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:153468600-153479200	Strong transcription	HMEC	breast
14	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
16	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:153468800-153492000	Weak transcription	Liver	Liver
18	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
19	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
20	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
21	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
22	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
23	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:153469600-153479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
26	chr2:153469600-153496800	Weak transcription	HSMM	muscle
27	chr2:153469800-153479000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:153470400-153478800	Strong transcription	Left Ventricle	heart
29	chr2:153470400-153483600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:153470600-153480400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:153470600-153483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:153471400-153482800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:153471600-153478800	Strong transcription	Lung	lung
35	chr2:153471600-153482200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:153472800-153480000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:153473200-153479000	Genic enhancers	Brain Hippocampus Middle	brain
40	chr2:153473200-153479600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:153473200-153480000	Strong transcription	Fetal Intestine Large	intestine
42	chr2:153473800-153496400	Weak transcription	Osteobl	bone
43	chr2:153474200-153479800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:153474400-153481400	Weak transcription	A549	lung
45	chr2:153474400-153486200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:153474800-153479800	Strong transcription	Fetal Intestine Small	intestine
48	chr2:153474800-153484800	Weak transcription	Ovary	ovary
49	chr2:153475200-153480200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:153475200-153482000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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