Variant report

Variant	rs56680066
Chromosome Location	chr7:116782916-116782917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	7:115890993-115892266..7:116782481-116788433	GM12878	blood:
2	7:115847372-115857098..7:116782481-116788433	GM12878	blood:
3	chr7:116782613..116784336-chr7:116787035..116789489,2	K562	blood:
4	7:116434729-116454408..7:116782481-116788433	GM12878	blood:
5	chr7:116779872..116782522-chr7:116782805..116785259,2	MCF-7	breast:
6	chr7:116782276..116785292-chr7:116786578..116788663,4	K562	blood:
7	7:116604327-116608063..7:116782481-116788433	GM12878	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000228368	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10224047	0.81[EUR][1000 genomes]
rs10224800	0.81[EUR][1000 genomes]
rs10269684	0.81[EUR][1000 genomes]
rs10270156	0.81[EUR][1000 genomes]
rs10487358	0.81[EUR][1000 genomes]
rs13227862	0.81[EUR][1000 genomes]
rs13246825	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34656305	0.98[EUR][1000 genomes]
rs34791149	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55912105	0.80[EUR][1000 genomes]
rs57518803	0.81[EUR][1000 genomes]
rs57745328	0.88[EUR][1000 genomes]
rs60877331	0.85[EUR][1000 genomes]
rs71564582	0.84[EUR][1000 genomes]
rs73211920	0.93[EUR][1000 genomes]
rs73211938	0.85[EUR][1000 genomes]
rs73211939	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7806551	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
2	chr7:116765000-116783000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
4	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
5	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
6	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:116765600-116783000	Weak transcription	HepG2	liver
10	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:116771200-116783400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:116773600-116783400	Weak transcription	NHEK	skin
16	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:116773800-116783200	Weak transcription	HMEC	breast
18	chr7:116774800-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:116775000-116783000	Weak transcription	Spleen	Spleen
20	chr7:116775000-116786400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:116775200-116783000	Weak transcription	NH-A	brain
22	chr7:116775200-116790800	Weak transcription	Fetal Brain Male	brain
23	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine
24	chr7:116775400-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:116775400-116784000	Strong transcription	GM12878-XiMat	blood
26	chr7:116775600-116783600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:116775800-116798000	Weak transcription	Hela-S3	cervix
28	chr7:116776000-116783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:116776200-116788800	Weak transcription	Ovary	ovary
30	chr7:116776200-116797000	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:116776200-116797200	Weak transcription	Gastric	stomach
32	chr7:116776400-116783200	Weak transcription	A549	lung
33	chr7:116776400-116786400	Weak transcription	Brain Anterior Caudate	brain
34	chr7:116776400-116797200	Weak transcription	NHLF	lung
35	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:116776600-116792400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:116776600-116792600	Weak transcription	Brain Angular Gyrus	brain
38	chr7:116776600-116797000	Weak transcription	HSMM	muscle
39	chr7:116776600-116797400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:116776800-116789400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:116777000-116784000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:116777200-116783800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:116778000-116783800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:116778200-116783800	Strong transcription	Fetal Lung	lung
45	chr7:116778400-116785000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:116778600-116783400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:116778800-116790400	Weak transcription	Aorta	Aorta
48	chr7:116778800-116791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:116778800-116791800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:116778800-116794200	Weak transcription	Right Ventricle	heart

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