Variant report

Variant	rs10485001
Chromosome Location	chr6:119633625-119633626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119630356..119635588-chr6:119947996..119951157,4	K562	blood:
2	chr6:119632816..119634470-chr6:119655470..119658092,2	K562	blood:
3	chr6:119631576..119635032-chr6:119667472..119671213,7	K562	blood:
4	chr6:119559906..119562568-chr6:119632947..119635233,2	K562	blood:
5	chr6:119214822..119217448-chr6:119632711..119634437,2	K562	blood:
6	chr6:119632711..119634346-chr6:119660199..119662314,2	K562	blood:
7	chr6:119215172..119217448-chr6:119632930..119634437,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111875	Chromatin interaction
ENSG00000111885	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1022868	0.81[EUR][1000 genomes]
rs1022869	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022870	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022871	0.81[EUR][1000 genomes]
rs1028327	0.93[ASN][1000 genomes]
rs1028328	0.93[ASN][1000 genomes]
rs10456921	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457352	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457353	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457355	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10457356	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10872173	0.93[ASN][1000 genomes]
rs10872176	0.81[EUR][1000 genomes]
rs10872177	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11153796	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153797	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153803	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153804	0.82[EUR][1000 genomes]
rs11153805	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153806	0.82[EUR][1000 genomes]
rs11153807	0.82[EUR][1000 genomes]
rs11153808	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153809	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11153810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751945	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11759899	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961647	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192420	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198423	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198667	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200554	0.93[ASN][1000 genomes]
rs12205260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205826	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206472	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12207595	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12210002	0.92[EUR][1000 genomes]
rs12524617	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1295388	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17514051	0.80[EUR][1000 genomes]
rs1884180	0.82[EUR][1000 genomes]
rs2036257	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2038769	0.83[GIH][hapmap];0.82[EUR][1000 genomes]
rs2092218	0.93[ASN][1000 genomes]
rs2142886	0.91[EUR][1000 genomes]
rs3798620	0.82[EUR][1000 genomes]
rs3798622	0.82[EUR][1000 genomes]
rs3798623	0.82[EUR][1000 genomes]
rs3798631	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3823000	0.82[EUR][1000 genomes]
rs3823003	0.82[EUR][1000 genomes]
rs3891271	0.82[EUR][1000 genomes]
rs4409209	0.82[EUR][1000 genomes]
rs4552766	0.82[EUR][1000 genomes]
rs4607463	0.93[ASN][1000 genomes]
rs55778105	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56827721	0.85[ASN][1000 genomes]
rs61094987	0.85[ASN][1000 genomes]
rs6420705	0.82[EUR][1000 genomes]
rs6420706	0.82[EUR][1000 genomes]
rs6420708	0.82[EUR][1000 genomes]
rs6569056	0.93[ASN][1000 genomes]
rs6569057	0.93[ASN][1000 genomes]
rs6569065	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569066	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569067	0.82[EUR][1000 genomes]
rs6569068	0.82[EUR][1000 genomes]
rs6569069	0.81[EUR][1000 genomes]
rs6569070	0.82[EUR][1000 genomes]
rs6569071	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6569072	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569073	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902335	0.82[EUR][1000 genomes]
rs6902669	0.82[EUR][1000 genomes]
rs6902792	0.82[EUR][1000 genomes]
rs6902889	0.82[EUR][1000 genomes]
rs6903249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909928	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911427	0.82[EUR][1000 genomes]
rs6911753	0.82[EUR][1000 genomes]
rs6913626	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915559	0.80[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6915947	0.80[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6915957	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918089	0.82[EUR][1000 genomes]
rs6918913	0.88[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920832	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6922559	0.82[EUR][1000 genomes]
rs6923181	0.82[EUR][1000 genomes]
rs6932241	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6932292	0.93[ASN][1000 genomes]
rs6934431	0.82[EUR][1000 genomes]
rs6935126	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6938540	0.82[EUR][1000 genomes]
rs715373	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs715374	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72960631	0.85[EUR][1000 genomes]
rs72966433	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73529045	0.93[ASN][1000 genomes]
rs73529086	0.93[ASN][1000 genomes]
rs763392	0.82[EUR][1000 genomes]
rs7740043	0.82[EUR][1000 genomes]
rs7740993	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7741003	0.80[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7741954	0.82[EUR][1000 genomes]
rs7743299	0.81[EUR][1000 genomes]
rs7743728	0.82[EUR][1000 genomes]
rs7743824	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743979	0.82[EUR][1000 genomes]
rs7744142	0.81[EUR][1000 genomes]
rs7746867	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7750041	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750901	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7750941	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7753315	0.80[CEU][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7753492	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754482	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7756391	0.80[ASN][1000 genomes]
rs7760582	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763569	0.93[ASN][1000 genomes]
rs7764238	0.82[EUR][1000 genomes]
rs7767198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770398	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7770777	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926859	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320685	0.81[EUR][1000 genomes]
rs9320686	0.82[EUR][1000 genomes]
rs9481898	0.82[EUR][1000 genomes]
rs9481900	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9481901	0.82[EUR][1000 genomes]
rs9489661	0.82[EUR][1000 genomes]
rs9489662	0.82[EUR][1000 genomes]
rs9489663	0.82[EUR][1000 genomes]
rs9489664	0.82[EUR][1000 genomes]
rs9489665	0.82[EUR][1000 genomes]
rs9489667	0.82[EUR][1000 genomes]
rs9489668	0.81[EUR][1000 genomes]
rs9489669	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9489670	0.82[EUR][1000 genomes]
rs9489671	0.82[EUR][1000 genomes]
rs9489672	0.82[EUR][1000 genomes]
rs9489673	0.82[EUR][1000 genomes]
rs9489674	0.81[EUR][1000 genomes]
rs9489675	0.82[EUR][1000 genomes]
rs9489679	0.82[EUR][1000 genomes]
rs9489680	0.82[EUR][1000 genomes]
rs9489681	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489686	0.85[TSI][hapmap]

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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
2	chr6:119617200-119637400	Weak transcription	Aorta	Aorta
3	chr6:119618200-119633800	Weak transcription	Colonic Mucosa	Colon
4	chr6:119621600-119634000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:119625200-119634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:119625200-119634200	Weak transcription	Brain Angular Gyrus	brain
7	chr6:119625200-119634400	Weak transcription	Fetal Stomach	stomach
8	chr6:119625200-119634400	Weak transcription	Thymus	Thymus
9	chr6:119625200-119635600	Weak transcription	Psoas Muscle	Psoas
10	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:119627200-119636800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:119627800-119635600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:119627800-119667000	Weak transcription	Gastric	stomach
14	chr6:119628000-119633800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:119628000-119633800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:119628000-119633800	Weak transcription	Lung	lung
17	chr6:119628000-119634000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:119628000-119634400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:119628000-119635800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:119628200-119633800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:119628200-119633800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:119629200-119637000	Enhancers	Adipose Nuclei	Adipose
23	chr6:119630200-119634800	Enhancers	Small Intestine	intestine
24	chr6:119630400-119634000	Weak transcription	Fetal Lung	lung
25	chr6:119630400-119634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:119630400-119635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:119630400-119635200	Weak transcription	Osteobl	bone
28	chr6:119630400-119637800	Genic enhancers	HepG2	liver
29	chr6:119630600-119633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:119630600-119634000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:119630800-119633800	Weak transcription	Dnd41	blood
32	chr6:119630800-119635400	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:119630800-119636600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:119631400-119633800	Genic enhancers	Primary hematopoietic stem cells	blood
35	chr6:119631600-119634600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:119631600-119634600	Enhancers	Pancreas	Pancrea
37	chr6:119631600-119636400	Enhancers	Left Ventricle	heart
38	chr6:119631600-119637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:119631800-119636000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:119631800-119636000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:119632000-119634000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:119632000-119634800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:119632000-119636600	Enhancers	Brain Anterior Caudate	brain
44	chr6:119632000-119638400	Weak transcription	Fetal Kidney	kidney
45	chr6:119632200-119633800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr6:119632200-119633800	Weak transcription	Stomach Mucosa	stomach
47	chr6:119632200-119635200	Weak transcription	NHLF	lung
48	chr6:119632200-119636000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:119632200-119636200	Enhancers	Right Ventricle	heart
50	chr6:119632200-119638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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