Variant report

Variant	rs9296770
Chromosome Location	chr6:54713902-54713903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54692819..54694720-chr6:54713504..54715357,2	MCF-7	breast:
2	chr6:54712764..54715534-chr6:54774311..54776470,2	MCF-7	breast:
3	chr6:54713425..54714965-chr6:54753003..54756000,2	MCF-7	breast:
4	chr6:54711853..54714484-chr8:48522444..48524308,2	MCF-7	breast:
5	chr6:54709728..54711702-chr6:54712389..54714158,2	K562	blood:
6	chr6:54462717..54465444-chr6:54712732..54714446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10428736	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10428844	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12212305	0.90[ASN][1000 genomes]
rs13199823	0.83[AFR][1000 genomes]
rs6900328	0.84[AFR][1000 genomes]
rs6938005	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54709000-54714200	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:54710800-54714400	Active TSS	Colonic Mucosa	Colon
3	chr6:54712200-54714400	Flanking Active TSS	Hela-S3	cervix
4	chr6:54712600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:54712800-54714400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:54712800-54716800	Weak transcription	Fetal Heart	heart
7	chr6:54713000-54714600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:54713200-54714000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:54713200-54714000	Weak transcription	Esophagus	oesophagus
10	chr6:54713200-54714400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:54713200-54715000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:54713200-54718200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:54713200-54720800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:54713200-54721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:54713200-54725600	Weak transcription	Gastric	stomach
16	chr6:54713400-54714000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:54713400-54714200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:54713400-54714200	Enhancers	Fetal Intestine Small	intestine
19	chr6:54713400-54720800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:54713400-54720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:54713400-54726400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:54713600-54714200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:54713600-54714200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:54713600-54714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:54713600-54714600	Flanking Active TSS	HMEC	breast
26	chr6:54713800-54714400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:54713800-54714400	Enhancers	Placenta	Placenta
28	chr6:54713800-54714400	Enhancers	Pancreas	Pancrea
29	chr6:54713800-54714400	Transcr. at gene 5' and 3'	NHEK	skin

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