Variant report

Variant	rs6976893
Chromosome Location	chr7:111738866-111738867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10225837	0.82[EUR][1000 genomes]
rs171825	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs259299	0.94[ASN][1000 genomes]
rs259300	0.92[ASN][1000 genomes]
rs259301	0.92[ASN][1000 genomes]
rs259303	0.94[ASN][1000 genomes]
rs2729564	0.89[EUR][1000 genomes]
rs58162781	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7808571	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv516034	chr7:111730967-111759584	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 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	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
2	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:111724600-111746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:111725200-111743000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:111727000-111749000	Weak transcription	Pancreas	Pancrea
7	chr7:111733200-111743200	Weak transcription	Liver	Liver
8	chr7:111733200-111748800	Weak transcription	Fetal Lung	lung
9	chr7:111735000-111743200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:111735000-111743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:111737200-111746600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:111737400-111740600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:111737400-111740600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:111737400-111742000	Weak transcription	Left Ventricle	heart
15	chr7:111737400-111744200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:111737600-111742800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:111737600-111743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:111737600-111743400	Weak transcription	Lung	lung
19	chr7:111737600-111743400	Weak transcription	Psoas Muscle	Psoas
20	chr7:111737600-111746400	Weak transcription	Right Atrium	heart
21	chr7:111737600-111746600	Weak transcription	Ovary	ovary
22	chr7:111737800-111743400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:111737800-111744000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:111738000-111740400	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:111738000-111740600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:111738000-111743000	Weak transcription	HMEC	breast
27	chr7:111738200-111742400	Weak transcription	HUVEC	blood vessel
28	chr7:111738200-111743200	Weak transcription	NHEK	skin
29	chr7:111738200-111743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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