Variant report

Variant	rs6666482
Chromosome Location	chr1:161738478-161738479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:161738287-161738513	Hela-S3	cervix:	n/a	chr1:161738409-161738420
2	CEBPB	chr1:161738250-161738567	A549	lung:	n/a	chr1:161738409-161738420
3	CEBPB	chr1:161738225-161738546	K562	blood:	n/a	chr1:161738409-161738420
4	CEBPB	chr1:161738250-161738585	IMR90	lung:	n/a	chr1:161738409-161738420
5	CEBPB	chr1:161738231-161738552	HepG2	liver:	n/a	chr1:161738409-161738420

No.	Distal block	Cell Line	Cell type
1	chr1:161737435..161739014-chr1:161741888..161744254,2	K562	blood:
2	chr1:161718568..161724937-chr1:161732191..161738837,13	K562	blood:
3	chr1:161738297..161740098-chr1:161749903..161752302,2	K562	blood:
4	chr1:161718595..161726705-chr1:161728119..161739561,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226889	TF binding region
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006310	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1027700	0.80[ASN][1000 genomes]
rs1058405	0.80[ASN][1000 genomes]
rs10918137	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12124509	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1847383	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2257107	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2340720	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2340721	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656336	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61802510	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683830	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6695760	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7519514	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905594	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931778	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6666482	ATF6	Cis_1M	lymphoblastoid	RTeQTL
rs6666482	FCRLA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161736600-161738600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr1:161736800-161738600	Flanking Active TSS	Liver	Liver
3	chr1:161736800-161738600	Flanking Active TSS	Dnd41	blood
4	chr1:161736800-161740000	Enhancers	Small Intestine	intestine
5	chr1:161736800-161752000	Weak transcription	Lung	lung
6	chr1:161736800-161754000	Weak transcription	Colonic Mucosa	Colon
7	chr1:161736800-161757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:161737000-161738600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:161737000-161738600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:161737000-161738600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:161737000-161738600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:161737000-161740200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:161737000-161740600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:161737000-161741000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:161737000-161743800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:161737000-161745400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:161737000-161751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:161737000-161752000	Weak transcription	Left Ventricle	heart
19	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
20	chr1:161737200-161738600	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:161737200-161739000	Weak transcription	NH-A	brain
22	chr1:161737200-161740800	Enhancers	Primary T cells from cord blood	blood
23	chr1:161737200-161741400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:161737200-161741600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:161737200-161744000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:161737200-161745000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:161737200-161746600	Weak transcription	NHLF	lung
28	chr1:161737200-161748000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:161737200-161751200	Weak transcription	Placenta	Placenta
30	chr1:161737200-161751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:161737200-161752200	Weak transcription	Psoas Muscle	Psoas
32	chr1:161737200-161752600	Weak transcription	Esophagus	oesophagus
33	chr1:161737200-161752800	Weak transcription	HSMMtube	muscle
34	chr1:161737200-161761600	Weak transcription	Fetal Brain Male	brain
35	chr1:161737200-161761600	Weak transcription	Right Ventricle	heart
36	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
37	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
38	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:161737400-161738600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:161737400-161738600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:161737400-161739000	Weak transcription	HMEC	breast
42	chr1:161737400-161739400	Enhancers	NHEK	skin
43	chr1:161737400-161740400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:161737400-161740600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:161737400-161740800	Weak transcription	A549	lung
46	chr1:161737400-161741200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:161737400-161750400	Weak transcription	Fetal Intestine Large	intestine
48	chr1:161737400-161751400	Weak transcription	Osteobl	bone
49	chr1:161737400-161752200	Weak transcription	HSMM	muscle
50	chr1:161737600-161738600	Enhancers	HepG2	liver

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