Variant report

Variant	rs7750313
Chromosome Location	chr6:77744077-77744078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1224201	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs323223	0.81[AFR][1000 genomes]
rs323225	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs323274	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs323275	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs323277	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs323278	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6935014	0.87[AMR][1000 genomes]
rs7752326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9447940	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019520	chr6:77355212-77875164	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538321	chr6:77355212-77875164	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv603806	chr6:77587889-77787815	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1021812	chr6:77589219-77792085	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1030186	chr6:77606604-77781304	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1026517	chr6:77622310-77827418	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3417770	chr6:77670473-77963253	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3402238	chr6:77670497-77963278	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1022311	chr6:77684420-77941524	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv886223	chr6:77686247-77950949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv603807	chr6:77734250-77807794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77742600-77746000	Weak transcription	Pancreas	Pancrea
2	chr6:77743000-77744200	Enhancers	HMEC	breast
3	chr6:77743400-77744200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:77743400-77744200	Enhancers	Fetal Heart	heart
5	chr6:77743600-77744200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:77743600-77744200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:77743600-77744200	Enhancers	HUVEC	blood vessel
8	chr6:77743600-77744400	Enhancers	NHEK	skin
9	chr6:77743800-77744200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:77743800-77744200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:77743800-77744200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:77743800-77744200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:77743800-77744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:77743800-77744200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:77743800-77744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:77743800-77744200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:77743800-77744200	Enhancers	Fetal Lung	lung
18	chr6:77743800-77744200	Enhancers	Left Ventricle	heart
19	chr6:77743800-77744200	Enhancers	Right Ventricle	heart
20	chr6:77743800-77744200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:77744000-77744200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:77744000-77744200	Active TSS	Hela-S3	cervix
23	chr6:77744000-77748400	Weak transcription	NH-A	brain

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