Variant report

Variant	rs11991547
Chromosome Location	chr8:9501447-9501448
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10090598	0.81[EUR][1000 genomes]
rs10109688	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774818	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11775432	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs11776199	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777891	0.89[EUR][1000 genomes]
rs11780274	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780757	0.89[EUR][1000 genomes]
rs11784858	0.88[EUR][1000 genomes]
rs11994018	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547639	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13249570	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13250838	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256808	0.83[ASN][1000 genomes]
rs13256939	0.84[EUR][1000 genomes]
rs13258733	0.88[EUR][1000 genomes]
rs13259379	0.90[CEU][hapmap]
rs13261385	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs13263825	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13264510	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13265363	0.88[CEU][hapmap];0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13267100	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13268770	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270240	0.86[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs13273330	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273771	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13274310	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs13275867	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13276464	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277588	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13280515	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13282049	0.92[EUR][1000 genomes]
rs1393	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17734024	0.88[CEU][hapmap]
rs28696132	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28711551	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34074860	0.81[ASN][1000 genomes]
rs34095920	0.88[EUR][1000 genomes]
rs34173677	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34182142	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34319155	0.89[EUR][1000 genomes]
rs34393110	0.88[EUR][1000 genomes]
rs34413242	0.81[EUR][1000 genomes]
rs34638238	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34679455	0.87[EUR][1000 genomes]
rs34848966	0.86[EUR][1000 genomes]
rs34926681	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34973657	0.85[EUR][1000 genomes]
rs35017872	0.92[EUR][1000 genomes]
rs35054885	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35197051	0.86[EUR][1000 genomes]
rs35361105	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35700558	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35722901	0.85[EUR][1000 genomes]
rs35812948	0.87[EUR][1000 genomes]
rs35890521	0.88[EUR][1000 genomes]
rs36090374	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128324	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4263773	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4272381	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs4282576	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4289816	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs4376499	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4458881	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493906	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4535743	0.88[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4551359	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4570159	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4840432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841172	0.82[EUR][1000 genomes]
rs4841186	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841194	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841195	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs55797444	0.81[AMR][1000 genomes]
rs62493904	0.92[EUR][1000 genomes]
rs62493905	0.92[EUR][1000 genomes]
rs7013834	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[EUR][1000 genomes]
rs71516518	0.88[EUR][1000 genomes]
rs71516523	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7463594	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7824880	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650636	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv437043	chr8:9493701-9501447	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv995663	chr8:9495365-9501901	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3478834	chr8:9496342-9502940	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3487490	chr8:9496642-9502090	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3487491	chr8:9497042-9501990	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3487494	chr8:9497334-9502231	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3478836	chr8:9497440-9501453	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv435864	chr8:9497532-9502313	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1827899	chr8:9498046-9503146	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
6	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
9	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:9491200-9502800	Weak transcription	Aorta	Aorta
13	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:9491400-9509000	Weak transcription	HSMM	muscle
16	chr8:9492200-9508000	Weak transcription	NH-A	brain
17	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
21	chr8:9495800-9531000	Weak transcription	Gastric	stomach
22	chr8:9496800-9502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:9498400-9505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:9499800-9502600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:9499800-9505000	Weak transcription	NHEK	skin
26	chr8:9499800-9510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:9500000-9501800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:9500200-9508000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:9500400-9510600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:9500800-9501800	Enhancers	K562	blood
32	chr8:9501000-9501800	Enhancers	HepG2	liver
33	chr8:9501200-9501600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:9501200-9501600	Enhancers	Small Intestine	intestine
35	chr8:9501200-9501800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:9501200-9501800	Enhancers	Fetal Heart	heart
37	chr8:9501200-9511200	Weak transcription	Right Atrium	heart
38	chr8:9501400-9501600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:9501400-9501600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:9501400-9501600	ZNF genes & repeats	Ovary	ovary
41	chr8:9501400-9501800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:9501400-9501800	Enhancers	Stomach Mucosa	stomach

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