Variant report

Variant	rs1391556
Chromosome Location	chr1:85841056-85841057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:
2	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
3	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
4	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006989	0.85[EUR][1000 genomes]
rs10489510	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747318	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10782549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873701	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873702	0.88[CEU][hapmap]
rs1146383	0.87[JPT][hapmap]
rs12022248	1.00[ASN][1000 genomes]
rs12029221	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033483	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034249	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035116	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12038426	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12042780	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047189	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1261681	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1342323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357635	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1523995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1608537	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17384213	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17388696	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965876	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016104	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037594	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2064510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124140	0.82[ASN][1000 genomes]
rs2300633	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389948	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851268	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428939	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4512701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949889	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4949897	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949898	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4949899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499869	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539714	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs604974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631817	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6420965	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs659070	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6672870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722663	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72722671	0.93[ASN][1000 genomes]
rs72722691	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722692	0.94[AMR][1000 genomes]
rs72724608	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731194	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515261	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539738	0.85[EUR][1000 genomes]
rs7555670	0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs990916	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
8	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
9	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:85839000-85841200	Weak transcription	Fetal Heart	heart
11	chr1:85839000-85841200	Enhancers	NH-A	brain
12	chr1:85839000-85841600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85839000-85841800	Enhancers	NHDF-Ad	bronchial
14	chr1:85839000-85842600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:85839400-85841800	Enhancers	Osteobl	bone
17	chr1:85839400-85842000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
19	chr1:85839600-85841800	Enhancers	Brain Anterior Caudate	brain
20	chr1:85839800-85841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:85839800-85842600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
23	chr1:85840000-85841200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85840000-85841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:85840000-85844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:85840000-85844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:85840000-85844800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:85840000-85844800	Weak transcription	Ovary	ovary
29	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:85840200-85841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:85840200-85844400	Weak transcription	HSMMtube	muscle
32	chr1:85840200-85844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:85840200-85844800	Weak transcription	Fetal Stomach	stomach
34	chr1:85840200-85845200	Weak transcription	HepG2	liver
35	chr1:85840200-85845400	Weak transcription	NHLF	lung
36	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
37	chr1:85840400-85841200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:85840400-85845200	Weak transcription	HSMM	muscle
40	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85840800-85841200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:85840800-85841800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:85840800-85842000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:85840800-85842000	Enhancers	Liver	Liver
46	chr1:85841000-85841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:85841000-85841200	Enhancers	Fetal Kidney	kidney
48	chr1:85841000-85841200	Enhancers	Pancreas	Pancrea
49	chr1:85841000-85841400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:85841000-85841600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links