Variant report

Variant	rs6702139
Chromosome Location	chr1:95589076-95589077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
2	chr1:95538464..95540465-chr1:95586873..95590940,3	K562	blood:
3	chr1:95586523..95590030-chr1:95590782..95594117,4	K562	blood:
4	chr1:95588124..95590030-chr1:95591638..95593797,2	K562	blood:

Variant related genes	Relation type
ENSG00000206679	Chromatin interaction
ENSG00000152078	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000271092	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10874906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11165314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165317	0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165319	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165333	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11165343	0.88[AMR][1000 genomes]
rs11165346	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs11165349	0.80[AMR][1000 genomes]
rs12021650	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12036706	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12037572	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12048133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12067935	0.96[AMR][1000 genomes]
rs12084387	0.93[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes]
rs12085822	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12401359	0.80[AMR][1000 genomes]
rs12407571	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12408858	0.81[ASN][1000 genomes]
rs1927043	0.83[ASN][1000 genomes]
rs2147587	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2148797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296308	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs259340	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs259341	0.80[AMR][1000 genomes]
rs259342	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs259344	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs259356	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3753872	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs61771764	0.88[AMR][1000 genomes]
rs61771765	0.88[AMR][1000 genomes]
rs61771766	0.88[AMR][1000 genomes]
rs6666528	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7528790	1.00[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
3	chr1:95584400-95590400	Enhancers	HepG2	liver
4	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
6	chr1:95585000-95589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:95585200-95592200	Weak transcription	Psoas Muscle	Psoas
8	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:95587000-95592200	Weak transcription	Left Ventricle	heart
10	chr1:95588000-95590000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:95588200-95589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:95588200-95592000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:95588200-95594200	Weak transcription	A549	lung
14	chr1:95588200-95596600	Weak transcription	Pancreas	Pancrea
15	chr1:95588200-95599600	Weak transcription	Gastric	stomach
16	chr1:95588200-95608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:95588400-95591400	Enhancers	Liver	Liver
18	chr1:95588400-95592200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:95588400-95597800	Weak transcription	Fetal Heart	heart
20	chr1:95589000-95590000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:95589000-95590800	Weak transcription	K562	blood

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