Variant report

Variant	rs12386466
Chromosome Location	chr5:142728759-142728760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142727870..142729788-chr5:142756178..142758195,2	K562	blood:
2	chr5:142727742..142729878-chr5:142782283..142785103,2	K562	blood:
3	chr5:142719538..142722482-chr5:142727185..142728885,2	K562	blood:
4	chr5:142726451..142729258-chr5:142734452..142735990,2	K562	blood:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10035222	0.94[ASN][1000 genomes]
rs10036734	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10037525	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10037693	1.00[YRI][hapmap]
rs10038016	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10038464	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10038827	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs10039663	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10041074	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10042644	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10042903	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs10042945	1.00[YRI][hapmap]
rs10043423	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs10043662	0.87[AFR][1000 genomes]
rs10043707	0.94[ASN][1000 genomes]
rs10045381	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10051482	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10053963	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10054283	0.87[AFR][1000 genomes]
rs10054713	0.87[AFR][1000 genomes]
rs10055443	0.87[AFR][1000 genomes]
rs10055444	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10055574	0.87[AFR][1000 genomes]
rs10060741	0.87[AFR][1000 genomes]
rs10065326	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10066267	1.00[YRI][hapmap]
rs10068126	0.87[AFR][1000 genomes]
rs10071869	0.87[AFR][1000 genomes]
rs10072193	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10076037	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10076665	0.94[ASN][1000 genomes]
rs10078410	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10440742	0.87[AFR][1000 genomes]
rs10477204	1.00[AFR][1000 genomes]
rs10477206	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10477208	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10477209	0.87[AFR][1000 genomes]
rs10482604	0.84[ASN][1000 genomes]
rs10482617	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10482645	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10482646	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10482694	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10482701	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs13306584	0.94[ASN][1000 genomes]
rs13306586	0.94[ASN][1000 genomes]
rs13306588	0.94[ASN][1000 genomes]
rs13353867	1.00[ASN][1000 genomes]
rs13353891	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13355103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13355270	1.00[AFR][1000 genomes]
rs13356723	0.87[AFR][1000 genomes]
rs13356889	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13358709	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs13358784	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13360160	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs13360865	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs13361140	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs13361442	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2301177	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs28392717	0.87[AFR][1000 genomes]
rs28538427	0.87[AFR][1000 genomes]
rs28546630	0.87[AFR][1000 genomes]
rs28609103	0.87[AFR][1000 genomes]
rs3822376	0.94[ASN][1000 genomes]
rs61751160	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61751174	0.87[AFR][1000 genomes]
rs61751243	0.87[AFR][1000 genomes]
rs61751246	0.87[AFR][1000 genomes]
rs61751254	0.87[AFR][1000 genomes]
rs61752260	1.00[AFR][1000 genomes]
rs61757448	0.87[AFR][1000 genomes]
rs61757449	0.87[AFR][1000 genomes]
rs6192	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs66697623	0.94[ASN][1000 genomes]
rs67300719	0.94[ASN][1000 genomes]
rs67902340	0.94[ASN][1000 genomes]
rs72481837	0.94[ASN][1000 genomes]
rs72481854	0.94[ASN][1000 genomes]
rs72542755	0.94[ASN][1000 genomes]
rs72542756	0.94[ASN][1000 genomes]
rs72542757	0.94[ASN][1000 genomes]
rs72542758	0.94[ASN][1000 genomes]
rs72542769	0.83[ASN][1000 genomes]
rs72557305	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72557310	0.84[ASN][1000 genomes]
rs9324911	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9324912	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9324913	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9324914	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs9324915	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9324917	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9324919	0.87[AFR][1000 genomes]
rs9324920	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9324922	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9324923	1.00[YRI][hapmap]

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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
4	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
7	chr5:142716000-142730200	Weak transcription	Fetal Lung	lung
8	chr5:142716600-142734200	Weak transcription	Ovary	ovary
9	chr5:142719400-142735400	Weak transcription	Gastric	stomach
10	chr5:142722400-142728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:142722400-142728800	Weak transcription	NHEK	skin
12	chr5:142722800-142735400	Weak transcription	Pancreas	Pancrea
13	chr5:142723400-142729000	Weak transcription	Small Intestine	intestine
14	chr5:142724400-142738000	Enhancers	Liver	Liver
15	chr5:142725000-142731000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:142725000-142764200	Weak transcription	Lung	lung
17	chr5:142725200-142732400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:142725200-142737000	Weak transcription	Fetal Intestine Small	intestine
19	chr5:142725400-142731000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:142725400-142733400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:142725400-142735200	Enhancers	Brain Hippocampus Middle	brain
22	chr5:142725400-142737200	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:142725600-142730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:142725600-142731600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:142725600-142731800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:142725600-142731800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:142725600-142732200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:142725600-142732600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:142725600-142733000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:142725600-142733400	Enhancers	Adipose Nuclei	Adipose
31	chr5:142725600-142735000	Enhancers	Brain Angular Gyrus	brain
32	chr5:142725800-142732200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:142725800-142732600	Enhancers	Primary T cells from cord blood	blood
34	chr5:142726000-142729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:142726000-142729200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:142726000-142729400	Weak transcription	Spleen	Spleen
37	chr5:142726000-142732600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:142726200-142731200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:142726400-142731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr5:142726400-142732000	Enhancers	NHDF-Ad	bronchial
41	chr5:142726600-142730200	Enhancers	HepG2	liver
42	chr5:142726600-142733000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:142727000-142729200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:142727000-142737800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:142727400-142728800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:142727400-142728800	Strong transcription	Dnd41	blood
47	chr5:142727400-142728800	Genic enhancers	GM12878-XiMat	blood
48	chr5:142727400-142730600	Enhancers	Psoas Muscle	Psoas
49	chr5:142727400-142731000	Enhancers	Fetal Heart	heart
50	chr5:142727400-142731400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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