Variant report

Variant	rs62474000
Chromosome Location	chr7:112002688-112002689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112002203..112004014-chr7:112089456..112091190,2	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2006275	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016864	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396531	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396532	0.96[EUR][1000 genomes]
rs4425678	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473060	0.85[AMR][1000 genomes]
rs62473127	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62473129	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473137	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473139	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62473141	0.87[EUR][1000 genomes]
rs62473143	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473147	1.00[EUR][1000 genomes]
rs62473148	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473150	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473152	1.00[EUR][1000 genomes]
rs62473153	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473154	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473156	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473157	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474003	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474007	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474009	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474010	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62474011	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474012	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474014	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960155	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971079	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs736760	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739746	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][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	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
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
2	chr7:111998600-112006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:111999600-112010800	Weak transcription	Right Atrium	heart
4	chr7:112001000-112007000	Weak transcription	Aorta	Aorta
5	chr7:112001200-112002800	Enhancers	HSMMtube	muscle
6	chr7:112001200-112003200	Enhancers	Colon Smooth Muscle	Colon
7	chr7:112001600-112002800	Weak transcription	Ovary	ovary
8	chr7:112001800-112002800	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:112001800-112004600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:112002000-112002800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:112002000-112004000	Enhancers	Brain Germinal Matrix	brain
12	chr7:112002000-112004400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:112002000-112004600	Enhancers	Fetal Lung	lung
14	chr7:112002200-112003400	Weak transcription	HepG2	liver
15	chr7:112002200-112003600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:112002200-112004000	Weak transcription	Lung	lung
17	chr7:112002400-112002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:112002400-112002800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:112002400-112003000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:112002400-112003000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:112002400-112003000	Enhancers	Fetal Brain Female	brain
22	chr7:112002400-112003400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:112002600-112003000	Enhancers	Fetal Brain Male	brain
24	chr7:112002600-112003000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:112002600-112003000	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:112002600-112003200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:112002600-112003400	Enhancers	Fetal Heart	heart
28	chr7:112002600-112004000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:112002600-112004200	Enhancers	Cortex derived primary cultured neurospheres	brain

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