Variant report

Variant	rs861066
Chromosome Location	chr2:206222195-206222196
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	chr2:206222195..206224503-chr2:206234608..206237289,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10179357	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897011	1.00[ASN][1000 genomes]
rs1207413	1.00[ASN][1000 genomes]
rs13389747	1.00[ASN][1000 genomes]
rs13409214	1.00[ASN][1000 genomes]
rs13409417	1.00[ASN][1000 genomes]
rs16837235	1.00[ASN][1000 genomes]
rs1877344	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877345	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001527	1.00[ASN][1000 genomes]
rs2137177	1.00[ASN][1000 genomes]
rs2668147	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2668152	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2668153	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28582277	1.00[ASN][1000 genomes]
rs59617257	1.00[ASN][1000 genomes]
rs59629925	1.00[ASN][1000 genomes]
rs6712196	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6745571	1.00[ASN][1000 genomes]
rs6751822	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751914	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6760161	1.00[ASN][1000 genomes]
rs698911	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73055947	1.00[ASN][1000 genomes]
rs73055953	1.00[ASN][1000 genomes]
rs73058323	1.00[ASN][1000 genomes]
rs7591617	1.00[ASN][1000 genomes]
rs849122	1.00[ASN][1000 genomes]
rs849192	1.00[ASN][1000 genomes]
rs849195	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs849196	1.00[ASN][1000 genomes]
rs849203	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs849204	1.00[ASN][1000 genomes]
rs849205	1.00[ASN][1000 genomes]
rs849212	1.00[ASN][1000 genomes]
rs849213	1.00[ASN][1000 genomes]
rs849252	0.84[GIH][hapmap]
rs849268	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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs861066	FAM117B	cis	parietal	SCAN
rs861066	CRYGC	cis	cerebellum	SCAN
rs861066	RAGE	trans	lymphoblastoid	seeQTL
rs861066	CLEC4G	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206213000-206222600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:206213000-206223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:206213200-206222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:206218000-206222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:206218000-206223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:206218000-206223000	Weak transcription	NH-A	brain
8	chr2:206218000-206223400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:206218200-206222400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:206218200-206222600	Weak transcription	HMEC	breast
11	chr2:206218200-206222800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:206218200-206223000	Weak transcription	Osteobl	bone
13	chr2:206218200-206223200	Weak transcription	HSMM	muscle
14	chr2:206218200-206223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:206218200-206225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:206218600-206222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:206218600-206222600	Weak transcription	NHDF-Ad	bronchial
18	chr2:206221600-206224600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:206221800-206222800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:206221800-206224000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:206221800-206224000	Enhancers	NHEK	skin
22	chr2:206222000-206222200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:206222000-206223000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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