Variant report

Variant	rs6944650
Chromosome Location	chr7:50501117-50501118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1002371	0.88[ASN][1000 genomes]
rs10224094	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235371	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250794	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261922	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270682	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575544	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11575575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980407	1.00[JPT][hapmap]
rs28573146	0.88[ASN][1000 genomes]
rs55693922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782136	0.87[ASN][1000 genomes]
rs62445903	0.87[ASN][1000 genomes]
rs6972091	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50493400-50505800	Weak transcription	Thymus	Thymus
3	chr7:50495200-50505800	Weak transcription	Fetal Intestine Large	intestine
4	chr7:50495200-50513000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
6	chr7:50495600-50513800	Weak transcription	HepG2	liver
7	chr7:50496000-50513000	Weak transcription	Gastric	stomach
8	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:50496800-50505800	Weak transcription	GM12878-XiMat	blood
10	chr7:50498000-50506800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:50499400-50506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:50499400-50513000	Weak transcription	Psoas Muscle	Psoas
13	chr7:50499600-50505400	Weak transcription	Fetal Lung	lung
14	chr7:50499800-50506400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:50500000-50505600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:50500000-50513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:50500400-50505600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:50500600-50513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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