Variant report

Variant	rs73788804
Chromosome Location	chr6:147475464-147475465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr6:147475379-147475764	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr6:147475385-147476202	A549	lung:	n/a	chr6:147475688-147475695 chr6:147475945-147475952

No.	Distal block	Cell Line	Cell type
1	chr6:147474421..147476967-chr6:147522510..147525429,3	MCF-7	breast:
2	chr6:147475074..147477777-chr6:147508697..147510706,2	K562	blood:
3	chr6:147450043..147452990-chr6:147474130..147476017,2	K562	blood:
4	chr6:147467095..147470702-chr6:147470968..147476050,6	K562	blood:
5	chr6:147446688..147448546-chr6:147474498..147476010,2	K562	blood:

Variant related genes	Relation type
ENSG00000196634	TF binding region
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11963039	1.00[AMR][1000 genomes]
rs2328812	1.00[AMR][1000 genomes]
rs73786902	0.94[AFR][1000 genomes]
rs7761345	1.00[AMR][1000 genomes]
rs7763489	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:147472600-147475800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:147474000-147477400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147474800-147476400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:147475000-147476800	Enhancers	HMEC	breast
5	chr6:147475000-147477600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:147475000-147478800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147475200-147475600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:147475200-147475600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr6:147475200-147475800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:147475200-147476000	Enhancers	NHLF	lung
11	chr6:147475200-147476200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:147475200-147476200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:147475200-147476200	Enhancers	Osteobl	bone
14	chr6:147475200-147476400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:147475200-147476400	Weak transcription	Fetal Intestine Large	intestine
16	chr6:147475200-147476400	Enhancers	A549	lung
17	chr6:147475200-147476400	Enhancers	NHEK	skin
18	chr6:147475400-147475600	Weak transcription	Pancreas	Pancrea
19	chr6:147475400-147475600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:147475400-147475600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:147475400-147475800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:147475400-147475800	Enhancers	Esophagus	oesophagus
23	chr6:147475400-147475800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr6:147475400-147475800	Enhancers	HSMM	muscle
25	chr6:147475400-147476200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:147475400-147476200	Enhancers	K562	blood
27	chr6:147475400-147476200	Enhancers	NHDF-Ad	bronchial
28	chr6:147475400-147476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:147475400-147476400	Enhancers	Hela-S3	cervix

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