Variant report

Variant	rs4656335
Chromosome Location	chr1:161822078-161822079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161820600..161823167-chr1:161894156..161896088,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10737502	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753666	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10800068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1394070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553444	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806594	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134690	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2134696	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298019	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341468	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2341479	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499855	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499856	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2880055	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34312480	0.94[ASN][1000 genomes]
rs34461550	0.97[ASN][1000 genomes]
rs35621393	1.00[ASN][1000 genomes]
rs36080602	0.94[ASN][1000 genomes]
rs3767633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233380	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4579731	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656339	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657103	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427633	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6427639	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6667896	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685369	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698065	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6701754	0.97[ASN][1000 genomes]
rs71639910	0.92[ASN][1000 genomes]
rs7517386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7532448	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs924777	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161780600-161823400	Weak transcription	A549	lung
4	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
6	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
9	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:161791400-161823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:161791600-161823000	Weak transcription	Fetal Lung	lung
12	chr1:161791800-161822400	Weak transcription	Thymus	Thymus
13	chr1:161791800-161823000	Weak transcription	Fetal Brain Female	brain
14	chr1:161791800-161823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:161792000-161822400	Weak transcription	Aorta	Aorta
17	chr1:161792000-161823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
19	chr1:161795200-161860200	Weak transcription	Lung	lung
20	chr1:161795400-161822400	Weak transcription	Fetal Stomach	stomach
21	chr1:161795600-161823000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:161795800-161827600	Weak transcription	Gastric	stomach
23	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
24	chr1:161802200-161823200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:161802400-161825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:161806200-161825600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:161806400-161822600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:161807000-161822400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:161808400-161822600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:161808400-161823200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
35	chr1:161808800-161822600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
37	chr1:161809200-161827000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:161809400-161838000	Weak transcription	HMEC	breast
39	chr1:161810200-161822400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:161810200-161824200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:161810200-161829000	Weak transcription	Stomach Mucosa	stomach
42	chr1:161810600-161835800	Weak transcription	Colonic Mucosa	Colon
43	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
44	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:161813000-161834200	Weak transcription	Esophagus	oesophagus
46	chr1:161813200-161823000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:161813200-161823000	Weak transcription	Psoas Muscle	Psoas
48	chr1:161813400-161822800	Weak transcription	Osteobl	bone
49	chr1:161813400-161823200	Weak transcription	NH-A	brain
50	chr1:161814200-161825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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