Variant report

Variant	rs982648
Chromosome Location	chr12:47789030-47789031
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	chr12:47776547..47778340-chr12:47788704..47790510,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10785677	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10785684	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs10881116	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs11183931	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581930	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs2015389	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2097726	0.87[ASN][1000 genomes]
rs2188943	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs6582709	0.87[ASN][1000 genomes]
rs6582710	0.87[ASN][1000 genomes]
rs721371	0.80[ASN][1000 genomes]
rs7312534	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7979332	0.80[ASN][1000 genomes]
rs9634311	0.83[AMR][1000 genomes];0.84[EUR][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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs982648	RACGAP1P	cis	cerebellum	SCAN
rs982648	C1QL4	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
2	chr12:47784000-47791200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47784200-47789400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:47784400-47789400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:47784600-47791800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:47785400-47791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47785800-47790400	Weak transcription	Hela-S3	cervix
8	chr12:47786000-47789400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:47786000-47789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:47786000-47790200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:47786200-47790400	Weak transcription	Spleen	Spleen
12	chr12:47787400-47790200	Weak transcription	NHDF-Ad	bronchial
13	chr12:47787400-47790800	Weak transcription	Liver	Liver
14	chr12:47787600-47789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47787600-47789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:47787600-47790400	Weak transcription	Primary T cells from cord blood	blood
17	chr12:47787600-47790600	Weak transcription	Adipose Nuclei	Adipose
18	chr12:47787600-47790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:47787600-47791000	Enhancers	A549	lung
20	chr12:47788000-47790600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:47788000-47795400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:47788200-47789200	Weak transcription	NH-A	brain
23	chr12:47788200-47790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:47788200-47790000	Weak transcription	HSMM	muscle
25	chr12:47788200-47790200	Weak transcription	HMEC	breast
26	chr12:47788400-47789600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:47788400-47791000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:47788400-47791000	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:47788600-47789200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:47788600-47789400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:47788800-47789400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:47788800-47790200	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:47788800-47791400	Enhancers	Osteobl	bone
34	chr12:47788800-47792000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:47789000-47789200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:47789000-47789400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:47789000-47790800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:47789000-47791600	Enhancers	Muscle Satellite Cultured Cells	--

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