Variant report

Variant	rs71564582
Chromosome Location	chr7:116806893-116806894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116804900..116807792-chr7:116808693..116811016,2	K562	blood:
2	chr7:116801128..116803398-chr7:116804970..116807968,2	K562	blood:
3	chr7:116805094..116807764-chr7:116809060..116811331,2	MCF-7	breast:
4	7:115924626-115929516..7:116799656-116808244	Hela-S3	cervix:
5	7:116544149-116547624..7:116799656-116808244	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000237870	Chromatin interaction
ENSG00000105971	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10487359	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13227862	0.92[EUR][1000 genomes]
rs13229745	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13246825	0.80[EUR][1000 genomes]
rs193562	0.81[EUR][1000 genomes]
rs34656305	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34791149	0.83[EUR][1000 genomes]
rs55912105	0.91[EUR][1000 genomes]
rs56680066	0.84[EUR][1000 genomes]
rs60877331	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6976661	0.81[EUR][1000 genomes]
rs73211920	0.82[EUR][1000 genomes]
rs73211938	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73211939	0.92[EUR][1000 genomes]
rs73211943	0.89[EUR][1000 genomes]
rs7806551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116779600-116811200	Weak transcription	Fetal Brain Female	brain
3	chr7:116783400-116811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:116793200-116811400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:116793800-116811200	Weak transcription	HepG2	liver
10	chr7:116795400-116811000	Weak transcription	GM12878-XiMat	blood
11	chr7:116795400-116812200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:116795600-116811000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:116795600-116814600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:116796000-116811200	Weak transcription	Fetal Intestine Large	intestine
16	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
17	chr7:116798000-116811000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:116798000-116811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:116798000-116811000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:116798000-116811200	Weak transcription	Lung	lung
21	chr7:116798000-116811200	Weak transcription	Ovary	ovary
22	chr7:116798000-116811200	Weak transcription	K562	blood
23	chr7:116798000-116829800	Weak transcription	Gastric	stomach
24	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:116798200-116811200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:116798200-116813200	Weak transcription	Aorta	Aorta
27	chr7:116798200-116866600	Weak transcription	HMEC	breast
28	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:116798600-116811200	Weak transcription	Right Ventricle	heart
30	chr7:116798600-116812000	Weak transcription	Fetal Stomach	stomach
31	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:116798800-116811000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:116798800-116811200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:116798800-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:116798800-116811200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:116799000-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:116799000-116812600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:116799200-116811200	Weak transcription	HSMMtube	muscle
39	chr7:116799200-116813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:116801200-116811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:116801400-116807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:116802400-116816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:116803400-116809400	Weak transcription	A549	lung
45	chr7:116804800-116811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:116805000-116813400	Weak transcription	Esophagus	oesophagus
47	chr7:116805200-116809800	Weak transcription	NH-A	brain
48	chr7:116805200-116810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:116805200-116811000	Weak transcription	HSMM	muscle
50	chr7:116805200-116811000	Weak transcription	NHDF-Ad	bronchial

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