Variant report

Variant	rs6482191
Chromosome Location	chr10:22045097-22045098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22042388..22046102-chr10:22047917..22049618,3	K562	blood:
2	chr10:22042822..22044423-chr10:22044598..22047460,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1086899	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap]
rs11816415	0.89[ASN][1000 genomes]
rs1243182	0.89[ASW][hapmap];0.86[CEU][hapmap]
rs2183271	0.84[ASW][hapmap];0.88[CHD][hapmap];0.88[YRI][hapmap]
rs2457954	1.00[CHB][hapmap]
rs2487512	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap]
rs2666750	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2666753	0.95[CEU][hapmap];0.82[MEX][hapmap]
rs2666756	1.00[CHB][hapmap]
rs2666781	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2807978	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2807982	0.90[CEU][hapmap]
rs2807983	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs2807988	0.81[CEU][hapmap]
rs3951780	0.82[CEU][hapmap]
rs4748768	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6482189	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7072776	0.94[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[YRI][hapmap]
rs7910002	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv540513	chr10:22031022-22065456	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6482191	PIP4K2A	cis	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22023000-22046200	Weak transcription	Right Atrium	heart
2	chr10:22028200-22056600	Weak transcription	Hela-S3	cervix
3	chr10:22029400-22053000	Weak transcription	Colonic Mucosa	Colon
4	chr10:22033800-22046600	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:22033800-22047400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:22033800-22047400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:22033800-22047600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:22034000-22045600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:22034000-22045600	Weak transcription	Ovary	ovary
10	chr10:22034000-22046400	Weak transcription	Fetal Brain Female	brain
11	chr10:22034000-22046800	Weak transcription	Brain Substantia Nigra	brain
12	chr10:22034000-22046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:22034000-22047600	Weak transcription	Small Intestine	intestine
14	chr10:22034000-22047800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:22034000-22049800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:22034000-22052600	Weak transcription	Primary B cells from cord blood	blood
17	chr10:22034200-22047400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:22034400-22045800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:22034400-22046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:22034400-22046200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:22034400-22046200	Weak transcription	NHLF	lung
22	chr10:22034400-22047200	Weak transcription	Aorta	Aorta
23	chr10:22034400-22047600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:22034400-22047600	Weak transcription	Brain Angular Gyrus	brain
25	chr10:22034400-22047600	Weak transcription	Left Ventricle	heart
26	chr10:22034400-22049200	Weak transcription	Brain Germinal Matrix	brain
27	chr10:22034400-22049200	Weak transcription	A549	lung
28	chr10:22034400-22049800	Weak transcription	Brain Anterior Caudate	brain
29	chr10:22034400-22051000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr10:22034400-22054200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:22034400-22057600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:22034400-22074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:22034800-22047000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:22035400-22045800	Weak transcription	Thymus	Thymus
35	chr10:22035400-22047000	Weak transcription	GM12878-XiMat	blood
36	chr10:22035800-22050000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:22036000-22053000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:22036000-22053200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:22036200-22049600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:22036200-22050200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr10:22036200-22052600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:22036200-22052800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr10:22036200-22066600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:22036400-22046000	Weak transcription	Primary T cells from cord blood	blood
45	chr10:22036600-22052800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr10:22036800-22046400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:22039800-22049800	Weak transcription	Esophagus	oesophagus
48	chr10:22040400-22045600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr10:22041200-22045600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:22041200-22046200	Strong transcription	Stomach Smooth Muscle	stomach

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