Variant report

Variant	rs1039033
Chromosome Location	chr6:101191397-101191398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs1039031	0.81[ASN][1000 genomes]
rs1039032	0.81[ASN][1000 genomes]
rs10457077	0.81[EUR][1000 genomes]
rs10457844	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10457849	0.96[ASN][1000 genomes]
rs1070990	0.95[ASN][1000 genomes]
rs108422	0.83[ASN][1000 genomes]
rs10872622	0.81[ASN][1000 genomes]
rs10872623	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10872628	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10872634	1.00[ASN][1000 genomes]
rs11155498	0.83[ASN][1000 genomes]
rs11155596	0.95[ASN][1000 genomes]
rs11155606	0.97[ASN][1000 genomes]
rs11155610	0.97[ASN][1000 genomes]
rs11155618	0.81[EUR][1000 genomes]
rs11155623	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11155636	1.00[ASN][1000 genomes]
rs11155637	0.98[ASN][1000 genomes]
rs11155638	1.00[ASN][1000 genomes]
rs11155653	0.99[ASN][1000 genomes]
rs11155659	0.98[ASN][1000 genomes]
rs11155661	0.82[EUR][1000 genomes]
rs11155666	0.96[ASN][1000 genomes]
rs11752659	1.00[ASN][1000 genomes]
rs12174782	0.82[CHB][hapmap]
rs12189562	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12190574	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193960	0.95[ASN][1000 genomes]
rs12195369	1.00[ASN][1000 genomes]
rs12199888	0.95[ASN][1000 genomes]
rs12201852	0.95[ASN][1000 genomes]
rs12206182	0.83[ASN][1000 genomes]
rs12206945	0.83[ASN][1000 genomes]
rs12207086	0.95[ASN][1000 genomes]
rs12210255	0.81[EUR][1000 genomes]
rs12210312	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12210550	0.96[ASN][1000 genomes]
rs12212435	0.81[EUR][1000 genomes]
rs12212736	0.95[ASN][1000 genomes]
rs12213201	0.81[EUR][1000 genomes]
rs12214151	0.94[ASN][1000 genomes]
rs12215909	0.81[ASN][1000 genomes]
rs12216199	0.95[ASN][1000 genomes]
rs12216304	0.97[ASN][1000 genomes]
rs12525128	0.83[EUR][1000 genomes]
rs12664626	0.81[EUR][1000 genomes]
rs13196803	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336245	0.80[EUR][1000 genomes]
rs151572	0.93[ASN][1000 genomes]
rs151573	0.95[ASN][1000 genomes]
rs151637	0.94[ASN][1000 genomes]
rs151638	0.95[ASN][1000 genomes]
rs17794439	0.89[EUR][1000 genomes]
rs1875400	0.83[ASN][1000 genomes]
rs1875401	0.82[ASN][1000 genomes]
rs2036052	0.95[ASN][1000 genomes]
rs2101814	0.85[EUR][1000 genomes]
rs2132168	0.81[EUR][1000 genomes]
rs2132169	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239189	0.94[ASN][1000 genomes]
rs239190	0.95[ASN][1000 genomes]
rs239193	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs239194	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239195	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239196	0.83[EUR][1000 genomes]
rs239197	0.95[ASN][1000 genomes]
rs239198	0.83[EUR][1000 genomes]
rs239199	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239201	0.95[ASN][1000 genomes]
rs239203	0.95[ASN][1000 genomes]
rs239204	0.95[ASN][1000 genomes]
rs239206	0.95[ASN][1000 genomes]
rs239207	0.95[ASN][1000 genomes]
rs239211	0.95[ASN][1000 genomes]
rs239212	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239216	0.95[ASN][1000 genomes]
rs239217	0.95[ASN][1000 genomes]
rs239219	0.95[ASN][1000 genomes]
rs239221	0.93[ASN][1000 genomes]
rs239222	0.94[ASN][1000 genomes]
rs239223	0.92[ASN][1000 genomes]
rs239226	0.94[ASN][1000 genomes]
rs239227	0.94[ASN][1000 genomes]
rs239229	0.94[ASN][1000 genomes]
rs239230	0.94[ASN][1000 genomes]
rs239231	0.94[ASN][1000 genomes]
rs239232	0.94[ASN][1000 genomes]
rs239235	0.94[ASN][1000 genomes]
rs239237	0.94[ASN][1000 genomes]
rs239238	0.94[ASN][1000 genomes]
rs239239	0.95[ASN][1000 genomes]
rs239242	0.95[ASN][1000 genomes]
rs239245	0.95[ASN][1000 genomes]
rs239246	0.95[ASN][1000 genomes]
rs239247	0.95[ASN][1000 genomes]
rs239248	0.95[ASN][1000 genomes]
rs239249	0.95[ASN][1000 genomes]
rs240110	0.92[ASN][1000 genomes]
rs240112	0.92[ASN][1000 genomes]
rs240115	0.83[ASN][1000 genomes]
rs240141	0.95[ASN][1000 genomes]
rs240143	0.95[ASN][1000 genomes]
rs240145	0.95[ASN][1000 genomes]
rs240146	0.95[ASN][1000 genomes]
rs240147	0.95[ASN][1000 genomes]
rs240148	0.95[ASN][1000 genomes]
rs240150	0.95[ASN][1000 genomes]
rs240153	0.94[ASN][1000 genomes]
rs240154	0.94[ASN][1000 genomes]
rs240156	0.92[ASN][1000 genomes]
rs240164	0.83[ASN][1000 genomes]
rs35168784	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35967345	0.81[EUR][1000 genomes]
rs369125	0.95[ASN][1000 genomes]
rs370757	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395521	0.83[ASN][1000 genomes]
rs41288423	0.81[ASN][1000 genomes]
rs4329121	0.80[EUR][1000 genomes]
rs4571568	0.98[ASN][1000 genomes]
rs4840147	0.81[EUR][1000 genomes]
rs4840148	0.81[EUR][1000 genomes]
rs4840151	0.81[EUR][1000 genomes]
rs58266877	0.94[ASN][1000 genomes]
rs592436	0.81[CHB][hapmap]
rs62422675	0.82[ASN][1000 genomes]
rs6570922	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6570930	0.81[EUR][1000 genomes]
rs6570969	0.82[EUR][1000 genomes]
rs664245	0.85[CHB][hapmap]
rs6903665	0.84[EUR][1000 genomes]
rs6905221	0.95[ASN][1000 genomes]
rs6907240	0.95[ASN][1000 genomes]
rs6907444	0.81[ASN][1000 genomes]
rs6909880	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919745	0.81[CHB][hapmap]
rs6922219	0.92[ASN][1000 genomes]
rs6925840	1.00[ASN][1000 genomes]
rs6928418	0.84[EUR][1000 genomes]
rs6934256	0.88[CHB][hapmap]
rs6937520	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6938440	0.95[ASN][1000 genomes]
rs705583	0.95[ASN][1000 genomes]
rs705584	0.95[ASN][1000 genomes]
rs705585	0.95[ASN][1000 genomes]
rs705599	0.81[CHB][hapmap]
rs705605	0.82[CHB][hapmap]
rs705607	0.81[CHB][hapmap]
rs705608	0.82[CHB][hapmap]
rs7356804	0.82[EUR][1000 genomes]
rs7451736	0.81[EUR][1000 genomes]
rs7740826	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746947	0.81[EUR][1000 genomes]
rs7747014	1.00[ASN][1000 genomes]
rs7759463	0.89[EUR][1000 genomes]
rs846794	0.82[CHB][hapmap]
rs846797	0.85[CHB][hapmap]
rs846798	0.81[CHB][hapmap]
rs846800	0.92[ASN][1000 genomes]
rs846803	0.92[ASN][1000 genomes]
rs9373574	0.80[EUR][1000 genomes]
rs9377193	0.90[EUR][1000 genomes]
rs9377232	0.82[EUR][1000 genomes]
rs9386233	0.84[EUR][1000 genomes]
rs9390626	0.80[EUR][1000 genomes]
rs9390675	0.81[EUR][1000 genomes]
rs9390682	0.81[EUR][1000 genomes]
rs9399652	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9403997	0.84[EUR][1000 genomes]
rs9404022	0.84[EUR][1000 genomes]
rs9404031	0.83[EUR][1000 genomes]
rs9404033	0.83[EUR][1000 genomes]
rs9498419	0.81[CHB][hapmap]
rs964223	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886452	chr6:101018032-101192051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886453	chr6:101018032-101203051	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886455	chr6:101049108-101203051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv604270	chr6:101058886-101196080	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv463991	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv604272	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv463992	chr6:101072307-101197953	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv604273	chr6:101072307-101197953	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv604274	chr6:101078718-101196080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101166200-101211000	Weak transcription	NH-A	brain
2	chr6:101168600-101211200	Weak transcription	Osteobl	bone
3	chr6:101169000-101211000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:101170800-101199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:101172200-101198600	Weak transcription	Small Intestine	intestine
6	chr6:101172800-101210800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:101173000-101209000	Weak transcription	K562	blood
8	chr6:101173000-101211000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:101175800-101211200	Weak transcription	Psoas Muscle	Psoas
10	chr6:101177000-101211600	Weak transcription	NHDF-Ad	bronchial
11	chr6:101182200-101214400	Weak transcription	A549	lung
12	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
13	chr6:101185400-101212600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:101186600-101208400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:101186800-101199400	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:101188400-101191400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:101188400-101211400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:101188800-101191400	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr6:101189200-101191400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:101189200-101209200	Weak transcription	Right Ventricle	heart
21	chr6:101189400-101191400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:101189400-101192200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:101189600-101191400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:101189600-101191400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:101189600-101191400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:101189600-101191400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:101189600-101191400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:101189600-101191400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:101189600-101191400	Strong transcription	HMEC	breast
30	chr6:101189600-101192000	ZNF genes & repeats	Dnd41	blood
31	chr6:101189800-101191400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:101190000-101191400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:101190000-101191400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr6:101190000-101191400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr6:101190000-101191400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:101190000-101191400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr6:101190000-101191400	Strong transcription	Primary T cells from cord blood	blood
38	chr6:101190000-101191400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:101190000-101191400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:101190000-101191400	Strong transcription	Aorta	Aorta
41	chr6:101190000-101191400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:101190000-101191400	Strong transcription	Gastric	stomach
43	chr6:101190000-101191400	Strong transcription	Ovary	ovary
44	chr6:101190000-101191400	Strong transcription	NHEK	skin
45	chr6:101190000-101192000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:101190200-101191400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:101190200-101192000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:101190200-101199600	Weak transcription	Fetal Brain Male	brain
49	chr6:101190200-101211200	Weak transcription	Fetal Lung	lung
50	chr6:101190200-101211600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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