Variant report

Variant	rs10946943
Chromosome Location	chr6:27656255-27656256
allele	A/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27655370..27657742-chr6:27715050..27717959,2	K562	blood:
2	chr6:27559025..27560718-chr6:27653331..27656285,2	K562	blood:
3	chr6:27202749..27204748-chr6:27656090..27658081,2	K562	blood:
4	chr6:27656133..27659088-chr6:27710854..27712483,2	K562	blood:
5	chr6:27655233..27656837-chr6:27693147..27694855,2	K562	blood:
6	chr6:27653789..27659338-chr6:27659392..27663401,13	K562	blood:
7	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
8	chr6:27568300..27570576-chr6:27654240..27656534,2	K562	blood:
9	chr6:27655786..27657671-chr6:27777694..27780064,2	K562	blood:
10	chr6:27518096..27521091-chr6:27655240..27657826,2	K562	blood:
11	chr6:27114898..27117828-chr6:27655156..27657411,2	MCF-7	breast:
12	chr6:27654225..27656931-chr6:27719778..27721751,2	K562	blood:
13	chr6:27104177..27107088-chr6:27654712..27657071,2	K562	blood:
14	chr6:27526508..27528799-chr6:27655486..27657530,2	K562	blood:
15	chr6:27655564..27658376-chr6:27856463..27858379,2	K562	blood:
16	chr6:27656124..27658141-chr6:27861315..27864462,3	K562	blood:
17	chr6:27655233..27657099-chr6:27693355..27695720,2	K562	blood:
18	chr6:27654652..27657286-chr6:27777694..27780046,3	K562	blood:
19	chr6:27114783..27117247-chr6:27654285..27656648,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000198339	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1028311	0.89[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap]
rs10484400	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1157432	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12055685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173985	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174087	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12663707	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664599	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555021	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867916	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867921	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867976	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs16867983	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs1973889	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142704	0.89[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs3175123	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs3800321	0.86[CHB][hapmap]
rs4711157	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs56408767	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59893892	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60096640	0.89[EUR][1000 genomes]
rs6906653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934295	0.89[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs73385147	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73385152	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73385154	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73739763	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7753236	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763685	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs878241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295751	0.93[CHB][hapmap]
rs9348771	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348777	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs9348778	0.83[EUR][1000 genomes]
rs9357043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357048	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs9368517	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368521	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368524	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368525	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368526	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9379995	0.84[ASN][1000 genomes]
rs9380000	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380001	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380005	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380022	0.93[CHB][hapmap]
rs9380024	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs9393826	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9393832	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9393835	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393836	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393838	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393839	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393842	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9393843	0.92[ASN][1000 genomes]
rs9393849	0.91[EUR][1000 genomes]
rs9393852	0.95[EUR][1000 genomes]
rs9393856	0.83[EUR][1000 genomes]
rs9468157	0.89[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs970668	0.89[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv437481	chr6:27655096-27683572	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1023808	chr6:27656049-27674354	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr6:27653600-27656600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27654200-27656600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:27654600-27656400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:27654600-27656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27654800-27656400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:27654800-27656400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:27654800-27656400	Active TSS	HMEC	breast
8	chr6:27654800-27656600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:27654800-27656600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:27654800-27656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:27654800-27656600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:27654800-27656600	Active TSS	A549	lung
13	chr6:27654800-27656600	Flanking Active TSS	Dnd41	blood
14	chr6:27654800-27657200	Active TSS	K562	blood
15	chr6:27655000-27656400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:27655000-27656400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:27655000-27656400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:27655000-27656400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:27655000-27656400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:27655000-27656400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:27655000-27656400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:27655000-27656400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr6:27655000-27656400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:27655000-27656400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:27655000-27656400	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:27655000-27656400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:27655000-27656400	Active TSS	Fetal Brain Male	brain
28	chr6:27655000-27656400	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr6:27655000-27656400	Active TSS	Fetal Lung	lung
30	chr6:27655000-27656400	Active TSS	Ovary	ovary
31	chr6:27655000-27656400	Active TSS	Rectal Smooth Muscle	rectum
32	chr6:27655000-27656400	Active TSS	Hela-S3	cervix
33	chr6:27655000-27656400	Active TSS	NHDF-Ad	bronchial
34	chr6:27655000-27656600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:27655000-27656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:27655000-27656600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:27655000-27656600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:27655200-27656400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr6:27655200-27656400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:27655200-27656400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:27655200-27656400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:27655200-27656400	Active TSS	NH-A	brain
43	chr6:27655200-27656400	Active TSS	Osteobl	bone
44	chr6:27655200-27656600	Active TSS	Fetal Brain Female	brain
45	chr6:27655200-27657000	Active TSS	Psoas Muscle	Psoas
46	chr6:27655400-27656400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:27655400-27656400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:27655400-27656400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:27655400-27656400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:27655400-27656400	Active TSS	Brain Angular Gyrus	brain

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