Variant report

Variant	rs2050717
Chromosome Location	chr6:140369781-140369782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140368572..140371123-chr6:140374130..140376086,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12523815	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390498	0.80[EUR][1000 genomes]
rs1390499	1.00[YRI][hapmap]
rs1416288	1.00[YRI][hapmap]
rs188002	1.00[YRI][hapmap]
rs201281	0.83[YRI][hapmap]
rs4243464	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4895579	0.83[YRI][hapmap]
rs494794	0.84[EUR][1000 genomes]
rs532938	0.80[EUR][1000 genomes]
rs538875	0.89[EUR][1000 genomes]
rs603321	0.83[YRI][hapmap]
rs623233	0.84[CEU][hapmap]
rs623331	0.83[YRI][hapmap]
rs644333	0.92[EUR][1000 genomes]
rs6933684	0.84[ASW][hapmap];0.83[YRI][hapmap]
rs702284	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9321762	1.00[YRI][hapmap]
rs9376507	0.83[EUR][1000 genomes]
rs982369	0.95[CEU][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1019508	chr6:140317472-140434466	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1022987	chr6:140344229-140463916	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2050717	IL22RA2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140363400-140370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:140363400-140370800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:140365600-140373000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:140365600-140374200	Weak transcription	A549	lung
5	chr6:140365800-140371200	Weak transcription	Osteobl	bone
6	chr6:140366400-140370600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:140366600-140371200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:140366600-140371200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:140366600-140372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:140366800-140370200	Weak transcription	Fetal Heart	heart
11	chr6:140366800-140370600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:140366800-140370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:140366800-140370800	Weak transcription	NH-A	brain
14	chr6:140366800-140371400	Weak transcription	HMEC	breast
15	chr6:140366800-140371400	Weak transcription	NHLF	lung
16	chr6:140366800-140371600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:140366800-140371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:140366800-140372200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:140367000-140371400	Weak transcription	HSMM	muscle
20	chr6:140367200-140371400	Weak transcription	NHDF-Ad	bronchial
21	chr6:140367400-140370600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:140367400-140370800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:140367600-140370800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:140367600-140371400	Weak transcription	NHEK	skin
25	chr6:140368000-140371200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:140368400-140371000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:140369200-140370800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:140369400-140369800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:140369400-140374600	Enhancers	Hela-S3	cervix
30	chr6:140369600-140369800	Enhancers	Monocytes-CD14+_RO01746	blood

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