Variant report

Variant	rs2132428
Chromosome Location	chr1:213167762-213167763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212631376..212634349-chr1:213167249..213169058,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10465694	0.83[ASN][1000 genomes]
rs1976333	0.83[ASN][1000 genomes]
rs2172982	0.97[ASN][1000 genomes]
rs2935209	0.92[ASN][1000 genomes]
rs2935219	0.97[ASN][1000 genomes]
rs2936011	0.90[ASN][1000 genomes]
rs3002285	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3010779	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs3010780	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3010787	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3010789	0.93[ASN][1000 genomes]
rs3124668	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4543872	0.94[ASN][1000 genomes]
rs4951475	0.91[ASN][1000 genomes]
rs4951476	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4951479	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs4951662	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6657234	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6671872	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs6691488	0.95[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs6692144	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs6699158	0.80[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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2132428	BATF3	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
3	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
13	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
15	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:213155600-213168200	Weak transcription	Thymus	Thymus
17	chr1:213155600-213168800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:213155600-213169400	Weak transcription	Lung	lung
19	chr1:213155600-213178400	Weak transcription	Gastric	stomach
20	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
21	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
22	chr1:213155800-213168400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:213156000-213168800	Weak transcription	Right Atrium	heart
24	chr1:213156000-213176800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:213156000-213177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:213156200-213168200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:213156200-213168600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain
29	chr1:213156200-213188000	Weak transcription	Pancreas	Pancrea
30	chr1:213156400-213170000	Weak transcription	Brain Anterior Caudate	brain
31	chr1:213156600-213170400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:213156600-213176600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:213157200-213178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:213158400-213188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:213158800-213169200	Weak transcription	Fetal Stomach	stomach
36	chr1:213160200-213188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:213160400-213173000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:213160400-213187200	Weak transcription	NHLF	lung
39	chr1:213160600-213169400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:213161000-213171600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:213161800-213168000	Weak transcription	Hela-S3	cervix
42	chr1:213161800-213169600	Weak transcription	Ovary	ovary
43	chr1:213161800-213170000	Weak transcription	HUVEC	blood vessel
44	chr1:213161800-213171600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:213162000-213168400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:213162000-213168400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:213162000-213184600	Weak transcription	Psoas Muscle	Psoas
48	chr1:213162200-213188000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:213162800-213167800	Weak transcription	NHDF-Ad	bronchial
50	chr1:213162800-213181200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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