Variant report

Variant	rs4657103
Chromosome Location	chr1:161740483-161740484
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161735908..161737428-chr1:161738641..161741168,2	MCF-7	breast:
2	chr1:161736308..161738165-chr1:161740063..161741622,2	MCF-7	breast:
3	chr1:161739606..161743338-chr1:161743718..161745860,3	K562	blood:
4	chr1:161735278..161737991-chr1:161739066..161741071,2	K562	blood:

Variant related genes	Relation type
ENSG00000118217	Chromatin interaction
ENSG00000226889	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10733044	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737502	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753645	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753666	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800068	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1394070	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553444	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2055539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2134690	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134696	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341468	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2341479	0.90[ASN][1000 genomes]
rs2499855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499856	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2880055	0.90[ASN][1000 genomes]
rs34312480	0.90[ASN][1000 genomes]
rs34461550	1.00[ASN][1000 genomes]
rs35621393	0.97[ASN][1000 genomes]
rs36080602	0.90[ASN][1000 genomes]
rs3767633	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233380	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4300199	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4579731	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656335	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656339	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427633	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427639	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667896	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698065	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6701754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71639910	0.89[ASN][1000 genomes]
rs7517386	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532448	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924777	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161736800-161752000	Weak transcription	Lung	lung
2	chr1:161736800-161754000	Weak transcription	Colonic Mucosa	Colon
3	chr1:161736800-161757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161737000-161740600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:161737000-161741000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:161737000-161743800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:161737000-161745400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:161737000-161751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:161737000-161752000	Weak transcription	Left Ventricle	heart
10	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
11	chr1:161737200-161740800	Enhancers	Primary T cells from cord blood	blood
12	chr1:161737200-161741400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:161737200-161741600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:161737200-161744000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:161737200-161745000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:161737200-161746600	Weak transcription	NHLF	lung
17	chr1:161737200-161748000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:161737200-161751200	Weak transcription	Placenta	Placenta
19	chr1:161737200-161751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:161737200-161752200	Weak transcription	Psoas Muscle	Psoas
21	chr1:161737200-161752600	Weak transcription	Esophagus	oesophagus
22	chr1:161737200-161752800	Weak transcription	HSMMtube	muscle
23	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
24	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
25	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
26	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
27	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:161737400-161740600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:161737400-161740800	Weak transcription	A549	lung
30	chr1:161737400-161741200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:161737400-161750400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:161737400-161751400	Weak transcription	Osteobl	bone
33	chr1:161737400-161752200	Weak transcription	HSMM	muscle
34	chr1:161737600-161741000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:161737600-161741400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:161737600-161745400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:161737600-161751400	Weak transcription	NHDF-Ad	bronchial
38	chr1:161737600-161752000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:161737600-161762000	Weak transcription	Fetal Lung	lung
40	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:161737800-161750400	Weak transcription	Brain Germinal Matrix	brain
42	chr1:161738000-161741200	Weak transcription	Primary B cells from cord blood	blood
43	chr1:161738000-161752400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:161738200-161740800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:161738200-161741000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:161738200-161741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:161738200-161743400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:161738200-161752200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:161738200-161753600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:161738200-161760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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