Variant report

Variant	rs11966547
Chromosome Location	chr6:28915622-28915623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28915108..28916611-chr6:28956143..28957725,2	K562	blood:
2	chr6:28908842..28913919-chr6:28914065..28917198,6	K562	blood:
3	chr6:28889181..28892324-chr6:28914059..28916550,3	MCF-7	breast:
4	chr6:28914281..28916611-chr6:28956056..28957643,2	K562	blood:
5	chr6:28830059..28832659-chr6:28914620..28916802,2	K562	blood:
6	chr6:28905933..28927444-chr6:28943937..28954526,53	K562	blood:

Variant related genes	Relation type
ENSG00000204713	Chromatin interaction
ENSG00000263426	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000204709	Chromatin interaction
ENSG00000227214	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11753443	0.90[EUR][1000 genomes]
rs11759525	0.82[EUR][1000 genomes]
rs11961493	1.00[EUR][1000 genomes]
rs11964044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11965253	0.90[EUR][1000 genomes]
rs11966136	0.90[EUR][1000 genomes]
rs11966708	0.90[EUR][1000 genomes]
rs11968644	0.82[EUR][1000 genomes]
rs3131103	1.00[EUR][1000 genomes]
rs34840519	1.00[EUR][1000 genomes]
rs58025129	0.90[EUR][1000 genomes]
rs58971829	1.00[EUR][1000 genomes]
rs59858792	1.00[EUR][1000 genomes]
rs6456867	1.00[EUR][1000 genomes]
rs73393707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395702	1.00[ASN][1000 genomes]
rs73397807	1.00[AMR][1000 genomes]
rs73403155	0.90[EUR][1000 genomes]
rs73403156	0.90[EUR][1000 genomes]
rs73403159	0.90[EUR][1000 genomes]
rs73403165	0.90[EUR][1000 genomes]
rs73403179	1.00[EUR][1000 genomes]
rs73403189	1.00[EUR][1000 genomes]
rs73407223	1.00[EUR][1000 genomes]
rs73407254	1.00[EUR][1000 genomes]
rs73408589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749527	1.00[EUR][1000 genomes]
rs7755410	0.89[EUR][1000 genomes]
rs7762991	0.82[EUR][1000 genomes]
rs9461478	0.82[EUR][1000 genomes]
rs9468420	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28912200-28921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:28912400-28915800	Weak transcription	NH-A	brain
3	chr6:28912400-28915800	Weak transcription	Osteobl	bone
4	chr6:28912400-28916000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:28912400-28916200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:28912400-28916800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:28912400-28920800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:28912400-28921200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:28912400-28921200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:28912400-28921200	Weak transcription	Right Atrium	heart
11	chr6:28912800-28915800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:28912800-28916000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:28913200-28916600	Enhancers	K562	blood
14	chr6:28914400-28917000	Enhancers	Hela-S3	cervix
15	chr6:28914800-28915800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:28915000-28915800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:28915000-28916200	Enhancers	Stomach Mucosa	stomach
18	chr6:28915200-28915800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:28915200-28916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:28915400-28916000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:28915400-28916000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:28915400-28916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:28915400-28916200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:28915400-28916200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:28915400-28916200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:28915400-28916200	Enhancers	NHEK	skin
27	chr6:28915400-28916400	Enhancers	HUVEC	blood vessel
28	chr6:28915400-28916600	Enhancers	A549	lung
29	chr6:28915400-28916800	Flanking Active TSS	HepG2	liver
30	chr6:28915400-28917000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:28915400-28917000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:28915400-28917000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:28915600-28916000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:28915600-28916200	Enhancers	HMEC	breast
35	chr6:28915600-28916600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:28915600-28921200	Weak transcription	Esophagus	oesophagus

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