Variant report

Variant	rs11577302
Chromosome Location	chr1:151141213-151141214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151023633..151025803-chr1:151140394..151141946,2	MCF-7	breast:
2	chr1:151136854..151140829-chr1:151140868..151144448,5	K562	blood:
3	chr1:151140805..151143244-chr1:151169735..151173647,3	MCF-7	breast:
4	chr1:151029301..151033715-chr1:151136820..151141213,5	MCF-7	breast:
5	chr1:151136705..151140829-chr1:151140868..151144071,4	K562	blood:
6	chr1:151137725..151143993-chr1:151144904..151151967,18	K562	blood:

Variant related genes	Relation type
ENSG00000163155	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000163157	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11204782	1.00[CHB][hapmap]
rs11584388	0.89[ASN][1000 genomes]
rs11807526	0.85[CHB][hapmap]
rs12087892	0.85[CHB][hapmap]
rs12739070	1.00[JPT][hapmap]
rs12739135	0.82[ASN][1000 genomes]
rs16833107	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs16865250	0.83[EUR][1000 genomes]
rs1752382	1.00[JPT][hapmap]
rs1752388	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1780586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2298265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2769275	1.00[JPT][hapmap]
rs35118469	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36035148	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3748545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72994055	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7523731	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11577302	SELENBP1	cis	cerebellum	SCAN
rs11577302	PRKAB2	cis	cerebellum	SCAN
rs11577302	SPRR1A	cis	cerebellum	SCAN
rs11577302	PSMD4	cis	cerebellum	SCAN
rs11577302	GJA5	cis	parietal	SCAN
rs11577302	MRPS21	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151139400-151142000	Weak transcription	Aorta	Aorta
2	chr1:151139600-151143000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:151139600-151143000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:151139600-151144800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:151139600-151145800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:151139600-151147000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:151139600-151148400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:151139600-151149800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:151139600-151158600	Strong transcription	Fetal Stomach	stomach
10	chr1:151139600-151158600	Strong transcription	Lung	lung
11	chr1:151139600-151161600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:151139800-151141800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:151139800-151142200	Weak transcription	Esophagus	oesophagus
14	chr1:151139800-151142400	Strong transcription	Colon Smooth Muscle	Colon
15	chr1:151139800-151142600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:151139800-151142600	Strong transcription	Fetal Lung	lung
17	chr1:151139800-151143200	Strong transcription	Left Ventricle	heart
18	chr1:151139800-151143400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:151139800-151143400	Strong transcription	Brain Angular Gyrus	brain
20	chr1:151139800-151143600	Strong transcription	Brain Substantia Nigra	brain
21	chr1:151139800-151144000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr1:151139800-151144000	Strong transcription	Fetal Kidney	kidney
23	chr1:151139800-151144000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:151139800-151144000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:151139800-151144200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:151139800-151144200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:151139800-151144200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:151139800-151144400	Strong transcription	Primary T cells from cord blood	blood
29	chr1:151139800-151146800	Weak transcription	Fetal Brain Male	brain
30	chr1:151139800-151147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:151139800-151148200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:151139800-151149000	Weak transcription	Small Intestine	intestine
33	chr1:151139800-151158600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:151139800-151158600	Strong transcription	Fetal Intestine Small	intestine
35	chr1:151139800-151159000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:151139800-151159400	Strong transcription	Fetal Brain Female	brain
37	chr1:151140000-151141400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:151140000-151141400	Weak transcription	Pancreas	Pancrea
39	chr1:151140000-151141400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:151140000-151141400	Weak transcription	HSMMtube	muscle
41	chr1:151140000-151142000	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:151140000-151142000	Weak transcription	Psoas Muscle	Psoas
43	chr1:151140000-151142000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:151140000-151142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151140000-151142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:151140000-151143000	Strong transcription	NHEK	skin
47	chr1:151140000-151143200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:151140000-151143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:151140000-151143400	Strong transcription	Brain Anterior Caudate	brain
50	chr1:151140000-151143400	Strong transcription	NHLF	lung

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