Variant report

Variant	rs4445474
Chromosome Location	chr1:220409308-220409309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220403586..220405327-chr1:220408780..220410379,2	K562	blood:
2	chr1:220378470..220380460-chr1:220408418..220411307,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1033107	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10495144	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863535	0.85[AMR][1000 genomes]
rs11118502	0.85[AMR][1000 genomes]
rs11118505	0.85[AMR][1000 genomes]
rs12062286	0.93[AFR][1000 genomes]
rs12066759	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070983	0.85[AMR][1000 genomes]
rs2491268	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667960	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667961	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789791	0.85[AMR][1000 genomes]
rs2808010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2808017	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814493	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9431233	0.98[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:220379200-220409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
7	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
8	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
12	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
13	chr1:220393200-220413400	Weak transcription	Fetal Heart	heart
14	chr1:220393400-220411400	Weak transcription	Fetal Brain Female	brain
15	chr1:220393800-220425800	Weak transcription	Gastric	stomach
16	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
17	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:220399200-220414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:220399600-220414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
22	chr1:220400600-220409600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:220400600-220415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
27	chr1:220401200-220418200	Weak transcription	Spleen	Spleen
28	chr1:220401200-220422800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:220401400-220420600	Weak transcription	Fetal Intestine Small	intestine
30	chr1:220401400-220422600	Weak transcription	Fetal Stomach	stomach
31	chr1:220401400-220422600	Weak transcription	Left Ventricle	heart
32	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:220402200-220412600	Weak transcription	Psoas Muscle	Psoas
34	chr1:220402200-220420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:220402600-220414800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:220403800-220415400	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:220403800-220423000	Weak transcription	Lung	lung
38	chr1:220404000-220425000	Weak transcription	NHLF	lung
39	chr1:220404600-220420800	Weak transcription	NHEK	skin
40	chr1:220405400-220412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:220405400-220420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:220405800-220420600	Weak transcription	HSMM	muscle
43	chr1:220405800-220422800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:220405800-220423000	Weak transcription	Aorta	Aorta
45	chr1:220406000-220410000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:220406000-220410000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:220406000-220410400	Weak transcription	Dnd41	blood
48	chr1:220406000-220410400	Weak transcription	GM12878-XiMat	blood
49	chr1:220406000-220414400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:220406000-220416600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links