Variant report

Variant	rs7622648
Chromosome Location	chr3:142346132-142346133
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	chr3:142340189..142342403-chr3:142344376..142347027,3	K562	blood:
2	chr3:142344136..142346877-chr3:142364474..142366213,2	K562	blood:

Variant related genes	Relation type
ENSG00000120756	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13316756	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2140433	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2140434	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2177397	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28378300	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28647471	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28709617	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4398471	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4582093	0.85[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56383228	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58910647	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6440095	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6440096	0.91[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6440097	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6773213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778383	0.91[CEU][hapmap]
rs6797237	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797745	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800573	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228788	0.81[ASN][1000 genomes]
rs7633021	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7638338	0.91[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7647212	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7647497	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9813377	0.96[EUR][1000 genomes]
rs9816128	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9816275	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9826463	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9847445	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9857567	0.91[CEU][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9862686	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9868309	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142334000-142357200	Weak transcription	Pancreas	Pancrea
2	chr3:142337800-142348400	Weak transcription	Gastric	stomach
3	chr3:142341400-142346200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:142343400-142348600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:142343400-142366400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:142344800-142346600	Enhancers	K562	blood
7	chr3:142345200-142353800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:142345600-142346200	Enhancers	A549	lung
9	chr3:142345600-142346200	Enhancers	HepG2	liver
10	chr3:142345800-142346600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr3:142346000-142347000	Weak transcription	Stomach Mucosa	stomach

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