Variant report

Variant	rs802718
Chromosome Location	chr6:128289511-128289512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128057816..128058584-chr6:128289323..128290031,2	MCF-7	breast:
2	chr6:128283049..128285690-chr6:128287675..128290328,2	MCF-7	breast:
3	chr6:128057292..128059744-chr6:128288447..128291098,2	MCF-7	breast:
4	chr6:128289419..128291149-chr6:128295395..128297962,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10457504	0.85[ASN][1000 genomes]
rs1089654	0.81[AMR][1000 genomes]
rs1155003	0.84[ASN][1000 genomes]
rs12194403	0.84[ASN][1000 genomes]
rs2223725	0.88[ASN][1000 genomes]
rs2326668	0.88[ASN][1000 genomes]
rs4321844	0.91[ASW][hapmap];0.85[CEU][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7751024	0.84[ASN][1000 genomes]
rs7769857	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs802720	0.81[AMR][1000 genomes]
rs802723	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs802736	0.91[AMR][1000 genomes]
rs802741	0.93[AMR][1000 genomes]
rs802748	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128270600-128293400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:128272400-128292600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:128278800-128297200	Weak transcription	Ovary	ovary
4	chr6:128280400-128304600	Weak transcription	Fetal Brain Male	brain
5	chr6:128281000-128293000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:128281200-128289800	Weak transcription	NH-A	brain
7	chr6:128285200-128292600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:128285600-128307400	Weak transcription	Aorta	Aorta
9	chr6:128285800-128292200	Weak transcription	NHDF-Ad	bronchial
10	chr6:128286000-128290000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:128286000-128290000	Weak transcription	HUVEC	blood vessel
12	chr6:128286200-128292400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:128286200-128293000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:128286800-128297000	Weak transcription	Lung	lung
15	chr6:128287000-128292400	Weak transcription	NHEK	skin
16	chr6:128287000-128300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:128287200-128292600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:128287200-128294200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:128287200-128309000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:128287400-128290000	Weak transcription	HepG2	liver
21	chr6:128287400-128293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:128287400-128297200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:128287600-128290800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:128287600-128292600	Weak transcription	Fetal Heart	heart
25	chr6:128287600-128292600	Weak transcription	Pancreas	Pancrea
26	chr6:128287600-128297200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:128287600-128308600	Weak transcription	Esophagus	oesophagus
28	chr6:128287800-128289600	Enhancers	HSMMtube	muscle
29	chr6:128287800-128290000	Weak transcription	Fetal Kidney	kidney
30	chr6:128287800-128292600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:128287800-128292600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:128287800-128292600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:128287800-128292800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:128287800-128293200	Weak transcription	Brain Anterior Caudate	brain
35	chr6:128287800-128303600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:128288000-128290000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:128288000-128293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:128288000-128296400	Weak transcription	Brain Angular Gyrus	brain
39	chr6:128288000-128304800	Weak transcription	Stomach Mucosa	stomach
40	chr6:128288000-128307600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:128288200-128289600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:128288200-128289800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:128288200-128290400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:128288200-128291400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr6:128288400-128290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:128288400-128291400	Strong transcription	HSMM	muscle
47	chr6:128288400-128292600	Weak transcription	HMEC	breast
48	chr6:128288600-128290200	Enhancers	Brain Substantia Nigra	brain
49	chr6:128288600-128290400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:128288600-128290600	Enhancers	Primary T cells from cord blood	blood

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