Variant report

Variant	rs72994859
Chromosome Location	chr6:132713938-132713939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132600570..132601283-chr6:132713650..132714534,4	K562	blood:
2	chr6:132621208..132622414-chr6:132713427..132714582,10	MCF-7	breast:
3	chr6:132621360..132622167-chr6:132713670..132714516,2	MCF-7	breast:
4	chr6:132600674..132601355-chr6:132713689..132714612,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1416100	1.00[ASN][1000 genomes]
rs1577995	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17061243	1.00[ASN][1000 genomes]
rs17190773	1.00[ASN][1000 genomes]
rs2153176	1.00[ASN][1000 genomes]
rs34871318	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032364	1.00[ASN][1000 genomes]
rs3861470	1.00[ASN][1000 genomes]
rs55753187	1.00[ASN][1000 genomes]
rs55779505	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56067804	1.00[ASN][1000 genomes]
rs56172786	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56336490	1.00[ASN][1000 genomes]
rs66578544	1.00[ASN][1000 genomes]
rs6925224	1.00[ASN][1000 genomes]
rs72994861	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994866	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994868	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994871	1.00[ASN][1000 genomes]
rs72994872	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994875	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449646	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739846	1.00[ASN][1000 genomes]
rs7755527	1.00[ASN][1000 genomes]
rs7755532	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773683	1.00[ASN][1000 genomes]
rs951466	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951467	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951468	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv5480	chr6:132705614-132714040	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv604677	chr6:132708163-132718231	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604690	chr6:132709300-132718231	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132712800-132714000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:132712800-132714000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:132712800-132714000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr6:132712800-132714000	Flanking Active TSS	Fetal Lung	lung
5	chr6:132712800-132714000	Flanking Active TSS	NHDF-Ad	bronchial
6	chr6:132712800-132714400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:132712800-132714400	Enhancers	Fetal Kidney	kidney
8	chr6:132712800-132714600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:132713000-132714000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:132713000-132714000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:132713000-132714000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:132713200-132714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:132713200-132714000	Enhancers	HMEC	breast
14	chr6:132713200-132714200	Enhancers	Primary B cells from cord blood	blood
15	chr6:132713200-132714400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:132713200-132714800	Enhancers	Fetal Stomach	stomach
17	chr6:132713200-132719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:132713400-132714000	Flanking Active TSS	NHLF	lung
19	chr6:132713400-132720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:132713600-132714000	Enhancers	Brain Substantia Nigra	brain
21	chr6:132713600-132714000	Enhancers	NH-A	brain
22	chr6:132713600-132714200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:132713600-132714200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:132713600-132714200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:132713600-132714400	Enhancers	Osteobl	bone
26	chr6:132713600-132714800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:132713800-132714000	Enhancers	Fetal Brain Male	brain
28	chr6:132713800-132714000	Weak transcription	Fetal Brain Female	brain
29	chr6:132713800-132714200	Enhancers	HSMM	muscle
30	chr6:132713800-132714400	Enhancers	HSMMtube	muscle
31	chr6:132713800-132714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:132713800-132714600	Enhancers	Primary B cells from peripheral blood	blood
33	chr6:132713800-132714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:132713800-132714800	Enhancers	Brain Germinal Matrix	brain
35	chr6:132713800-132714800	Enhancers	Colon Smooth Muscle	Colon
36	chr6:132713800-132715200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:132713800-132715200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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