Variant report

Variant	rs6005956
Chromosome Location	chr22:29411267-29411268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29401603..29404388-chr22:29410754..29413254,2	K562	blood:
2	chr22:29411148..29412690-chr22:29641061..29643076,2	K562	blood:
3	chr22:29404563..29408060-chr22:29409696..29411797,4	K562	blood:
4	chr22:29262470..29264565-chr22:29409487..29412264,2	K562	blood:
5	chr22:29382490..29384756-chr22:29408678..29411279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12484832	0.96[CEU][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12485244	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17440734	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1977047	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1983553	0.96[CEU][hapmap]
rs2064084	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103544	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2347790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28541979	0.83[EUR][1000 genomes]
rs4140643	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4333023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4404379	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4594553	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4616575	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469994	0.93[CEU][hapmap]
rs4820794	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4823002	0.96[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4823003	0.96[CEU][hapmap]
rs4823005	0.96[CEU][hapmap]
rs5997427	0.85[YRI][hapmap]
rs5997430	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997431	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997433	0.96[CEU][hapmap]
rs5997434	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997435	0.80[EUR][1000 genomes]
rs6005955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005958	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005959	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005964	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6005965	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs6005967	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66905312	0.82[AMR][1000 genomes]
rs713834	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs727892	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7284304	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7287517	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7290304	0.96[CEU][hapmap]
rs738246	0.96[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8137254	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8137499	0.93[CEU][hapmap]
rs8142591	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs874915	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874916	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608719	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs9608720	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs9608721	0.81[EUR][1000 genomes]
rs9613768	0.82[AMR][1000 genomes]
rs9613771	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9613776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9613778	0.82[AMR][1000 genomes]
rs9613780	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs9613782	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs9613785	0.96[CEU][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs964589	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29412000	Weak transcription	A549	lung
2	chr22:29400600-29425400	Weak transcription	NHEK	skin
3	chr22:29401200-29413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
5	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:29402600-29412000	Weak transcription	Pancreas	Pancrea
9	chr22:29402800-29411400	Genic enhancers	HepG2	liver
10	chr22:29405200-29418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29407800-29413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29408200-29411600	Enhancers	Brain Anterior Caudate	brain
14	chr22:29408200-29412000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
16	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:29408400-29411400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr22:29408400-29412200	Weak transcription	Gastric	stomach
20	chr22:29408600-29412200	Weak transcription	Stomach Mucosa	stomach
21	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:29409200-29412200	Weak transcription	Fetal Brain Female	brain
24	chr22:29409200-29412200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:29409200-29414800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:29409400-29414800	Weak transcription	Aorta	Aorta
27	chr22:29409600-29412200	Weak transcription	Small Intestine	intestine
28	chr22:29409600-29413800	Weak transcription	Fetal Lung	lung
29	chr22:29409800-29412600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:29410000-29411400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr22:29410000-29412200	Weak transcription	Brain Germinal Matrix	brain
32	chr22:29410400-29416000	Enhancers	Liver	Liver
33	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
34	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
35	chr22:29410600-29412400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:29410800-29411400	Enhancers	Primary T cells from cord blood	blood
37	chr22:29410800-29411400	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:29410800-29412000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:29410800-29412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:29410800-29412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29410800-29412400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:29410800-29418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:29411000-29411600	Weak transcription	Fetal Intestine Small	intestine
44	chr22:29411000-29412000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr22:29411000-29412000	Weak transcription	Fetal Intestine Large	intestine
46	chr22:29411000-29412000	Weak transcription	Fetal Kidney	kidney
47	chr22:29411000-29412000	Weak transcription	Thymus	Thymus
48	chr22:29411000-29412200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:29411000-29412200	Weak transcription	Fetal Thymus	thymus
50	chr22:29411000-29412400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links