Variant report

Variant	rs7528918
Chromosome Location	chr1:61818422-61818423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11207728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1344421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2180199	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2180200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2364467	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs41423747	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4915737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6587917	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6587919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs6697913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7553582	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs9436637	0.90[CEU][hapmap];0.86[JPT][hapmap]

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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats 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 target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61801000-61818600	Weak transcription	K562	blood
2	chr1:61801200-61824600	Weak transcription	Gastric	stomach
3	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
4	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
5	chr1:61804800-61822800	Weak transcription	Fetal Stomach	stomach
6	chr1:61805800-61818600	Weak transcription	Lung	lung
7	chr1:61805800-61848800	Weak transcription	Pancreas	Pancrea
8	chr1:61810000-61818800	Weak transcription	Fetal Brain Female	brain
9	chr1:61810000-61822600	Weak transcription	Fetal Kidney	kidney
10	chr1:61810200-61824600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:61810200-61827600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:61810400-61818600	Weak transcription	Aorta	Aorta
13	chr1:61810400-61824200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:61810400-61828000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:61810600-61824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:61810600-61828000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:61810600-61831600	Weak transcription	Stomach Mucosa	stomach
18	chr1:61810800-61824400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:61810800-61827800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:61811000-61822400	Weak transcription	Colonic Mucosa	Colon
21	chr1:61812400-61819000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:61813800-61829800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:61814000-61848800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:61814200-61823600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:61814600-61841200	Weak transcription	Psoas Muscle	Psoas
26	chr1:61814600-61848800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:61814800-61818600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:61814800-61818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:61814800-61818600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:61814800-61827800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:61816000-61821400	Strong transcription	HepG2	liver
32	chr1:61817400-61819200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:61817600-61819000	Enhancers	HUVEC	blood vessel
34	chr1:61817800-61819200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:61818000-61818800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:61818000-61818800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:61818000-61818800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:61818000-61819200	Genic enhancers	NHEK	skin
39	chr1:61818000-61822000	Strong transcription	Liver	Liver
40	chr1:61818000-61823400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:61818200-61818600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:61818200-61818600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:61818200-61818600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:61818200-61818600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:61818200-61818600	Strong transcription	Esophagus	oesophagus
46	chr1:61818200-61818600	Enhancers	Fetal Brain Male	brain
47	chr1:61818200-61818800	Enhancers	Right Atrium	heart
48	chr1:61818200-61818800	Enhancers	Right Ventricle	heart
49	chr1:61818200-61818800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:61818200-61818800	Enhancers	HMEC	breast

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