Variant report

Variant	rs2180514
Chromosome Location	chr6:37836051-37836052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37835497..37837699-chr6:37850167..37852091,2	MCF-7	breast:
2	chr6:37835143..37837500-chr6:37850696..37852776,2	MCF-7	breast:
3	chr6:37834905..37837847-chr6:37840827..37844123,3	MCF-7	breast:
4	chr6:37831139..37833570-chr6:37835178..37837982,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11756656	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1212636	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12211975	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs174105	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs187741	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1979759	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2055205	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2201646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2395687	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259672	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs259674	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs259675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259676	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs259677	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs259678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs259682	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs259685	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259687	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259688	0.85[ASN][1000 genomes]
rs259693	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259694	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs259714	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259717	0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs259721	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs259722	0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs259723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3792706	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4142102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711524	0.81[ASN][1000 genomes]
rs4714118	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4714123	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6458030	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6458036	0.84[ASN][1000 genomes]
rs67133782	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67479083	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6912097	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6915506	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6917668	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6920185	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926280	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6930859	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6934617	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765798	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9369029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9394469	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9462374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs9470714	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470725	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9647620	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking 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
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:37808000-37839000	Weak transcription	Fetal Stomach	stomach
3	chr6:37813600-37845200	Weak transcription	K562	blood
4	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
5	chr6:37824000-37842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:37824400-37836200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:37826800-37836200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:37829000-37837800	Weak transcription	Dnd41	blood
9	chr6:37831000-37836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:37831000-37846000	Weak transcription	Esophagus	oesophagus
11	chr6:37831200-37837000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:37831200-37839600	Weak transcription	Fetal Lung	lung
13	chr6:37831600-37836600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:37831800-37836400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:37832400-37836200	Weak transcription	Fetal Brain Male	brain
16	chr6:37832600-37836400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:37832800-37836200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:37833000-37836200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:37833000-37836200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:37833000-37836400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:37833000-37837000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:37833000-37837600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:37833200-37836200	Enhancers	Primary T cells from cord blood	blood
24	chr6:37833200-37836800	Enhancers	HSMM	muscle
25	chr6:37833400-37836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:37833400-37836400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:37833400-37836600	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:37833400-37836600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:37833600-37836200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:37833600-37836400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:37833600-37836600	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:37833600-37836600	Enhancers	A549	lung
33	chr6:37833800-37837000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:37834000-37836200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:37834000-37836400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:37834000-37837800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:37834000-37838000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:37834000-37845800	Weak transcription	Spleen	Spleen
39	chr6:37834000-37846000	Weak transcription	Lung	lung
40	chr6:37834000-37849200	Weak transcription	Fetal Thymus	thymus
41	chr6:37834200-37837000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:37834200-37837200	Enhancers	NHEK	skin
43	chr6:37834400-37836600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr6:37834400-37836600	Enhancers	Stomach Mucosa	stomach
45	chr6:37834400-37836800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:37834400-37836800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:37834400-37836800	Enhancers	NHDF-Ad	bronchial
48	chr6:37834400-37837000	Enhancers	HMEC	breast
49	chr6:37834400-37837000	Enhancers	HSMMtube	muscle
50	chr6:37834400-37837600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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