Variant report

Variant	rs12665693
Chromosome Location	chr6:101124943-101124944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101120240..101121939-chr6:101124928..101126557,2	K562	blood:
2	chr6:101123862..101126267-chr6:101132298..101133807,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10485138	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12183204	1.00[EUR][1000 genomes]
rs12660722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661291	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664256	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12664950	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060914	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060954	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295604	1.00[EUR][1000 genomes]
rs3736784	1.00[EUR][1000 genomes]
rs3736785	1.00[EUR][1000 genomes]
rs41285889	1.00[EUR][1000 genomes]
rs41288407	1.00[EUR][1000 genomes]
rs41288409	1.00[EUR][1000 genomes]
rs41288411	1.00[EUR][1000 genomes]
rs6899507	0.83[EUR][1000 genomes]
rs6902887	0.82[ASN][1000 genomes]
rs6903356	0.96[AFR][1000 genomes]
rs6908453	1.00[EUR][1000 genomes]
rs6908648	1.00[EUR][1000 genomes]
rs6910914	0.89[AFR][1000 genomes]
rs6912723	0.96[AFR][1000 genomes]
rs6913463	0.96[AFR][1000 genomes]
rs6923676	0.96[AFR][1000 genomes]
rs6928584	1.00[EUR][1000 genomes]
rs6938152	0.96[AFR][1000 genomes]
rs7747613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748587	0.96[AFR][1000 genomes]
rs7751872	1.00[EUR][1000 genomes]
rs7752639	0.96[AFR][1000 genomes]
rs7753015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755099	0.82[AFR][1000 genomes]
rs7756019	1.00[EUR][1000 genomes]
rs7756451	0.89[AFR][1000 genomes]
rs7762637	0.89[AFR][1000 genomes]
rs7765469	1.00[EUR][1000 genomes]
rs7766396	0.96[AFR][1000 genomes]
rs7767971	1.00[EUR][1000 genomes]
rs7772262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773317	1.00[EUR][1000 genomes]
rs7773345	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv1028016	chr6:101001055-101158822	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv886449	chr6:101018032-101147095	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886450	chr6:101018032-101168137	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886451	chr6:101018032-101172328	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv463988	chr6:101036713-101158950	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv604266	chr6:101036713-101158950	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv604271	chr6:101072307-101158950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	nsv1032826	chr6:101091434-101147095	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1028583	chr6:101091434-101152631	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1015465	chr6:101091434-101157493	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1031817	chr6:101091995-101157493	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv521897	chr6:101123503-101158950	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101071600-101127800	Weak transcription	Hela-S3	cervix
2	chr6:101093000-101145800	Weak transcription	Fetal Thymus	thymus
3	chr6:101100400-101131400	Weak transcription	Liver	Liver
4	chr6:101100600-101149800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:101100800-101126600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:101100800-101129200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:101100800-101147600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:101100800-101164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:101103800-101126600	Weak transcription	Placenta	Placenta
10	chr6:101103800-101129400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:101103800-101129600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:101103800-101143600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:101104000-101135000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:101110000-101147600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:101110400-101146800	Weak transcription	Primary T cells from cord blood	blood
16	chr6:101110800-101129800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:101111200-101168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:101111600-101130200	Weak transcription	HUVEC	blood vessel
19	chr6:101111600-101168000	Weak transcription	NHDF-Ad	bronchial
20	chr6:101111800-101131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:101111800-101139800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:101111800-101147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:101111800-101147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:101111800-101168200	Weak transcription	Osteobl	bone
25	chr6:101112000-101161200	Weak transcription	HMEC	breast
26	chr6:101118600-101134000	Weak transcription	Psoas Muscle	Psoas
27	chr6:101118600-101168000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:101118800-101147400	Weak transcription	GM12878-XiMat	blood
29	chr6:101119000-101126800	Weak transcription	HSMM	muscle
30	chr6:101119000-101147000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:101119200-101165600	Weak transcription	NH-A	brain
32	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
33	chr6:101119800-101133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:101119800-101146800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:101119800-101146800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:101120000-101146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:101120000-101147000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:101120000-101148000	Weak transcription	HSMMtube	muscle
39	chr6:101121000-101137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:101122000-101132400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:101122000-101148000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:101122400-101129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:101124200-101127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:101124600-101146800	Weak transcription	Dnd41	blood
45	chr6:101124800-101147400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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