Variant report

Variant	rs1872444
Chromosome Location	chr12:42519022-42519023
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	chr12:42516680..42519468-chr12:42521438..42523192,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11610892	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611399	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11613623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812537	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12813181	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819127	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819341	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12823639	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12824122	0.82[AMR][1000 genomes]
rs12824857	0.98[EUR][1000 genomes]
rs1492364	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap]
rs17224170	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17224177	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2406566	0.81[ASN][1000 genomes]
rs34064806	0.82[AMR][1000 genomes]
rs34152211	0.98[EUR][1000 genomes]
rs34329231	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619605	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34669984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34827386	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34842994	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35644702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35682620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3990974	0.90[AMR][1000 genomes]
rs4264206	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56142563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58891308	0.93[AMR][1000 genomes]
rs60278477	0.81[ASN][1000 genomes]
rs60870773	0.81[ASN][1000 genomes]
rs61279714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61647009	0.81[ASN][1000 genomes]
rs67420641	0.89[EUR][1000 genomes]
rs67788023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68185827	0.89[AMR][1000 genomes]
rs73114498	0.81[ASN][1000 genomes]
rs73127416	0.81[ASN][1000 genomes]
rs73127445	0.81[ASN][1000 genomes]
rs73131166	0.81[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1872444	ZCRB1	cis	lymphoblastoid	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42476000-42524400	Weak transcription	Gastric	stomach
3	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
4	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
5	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
6	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
11	chr12:42505800-42537000	Weak transcription	Lung	lung
12	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:42512000-42522200	Weak transcription	HMEC	breast
15	chr12:42512000-42537400	Weak transcription	Ovary	ovary
16	chr12:42512400-42520800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:42512400-42521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:42512400-42523800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:42512400-42523800	Weak transcription	HSMM	muscle
20	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
21	chr12:42512600-42519400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:42512600-42524400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:42512600-42524600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:42512800-42524400	Weak transcription	Left Ventricle	heart
25	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:42513200-42523800	Weak transcription	NH-A	brain
27	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:42513400-42519200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:42513600-42523800	Weak transcription	NHDF-Ad	bronchial
30	chr12:42513600-42523800	Weak transcription	NHLF	lung
31	chr12:42515400-42523600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:42518200-42519800	Enhancers	Liver	Liver
33	chr12:42518400-42519200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:42518400-42519400	Enhancers	Fetal Intestine Small	intestine
35	chr12:42518400-42519800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:42518400-42519800	Enhancers	Fetal Intestine Large	intestine
37	chr12:42518400-42521200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:42518600-42519200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:42518600-42519200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:42518600-42519200	Enhancers	K562	blood
41	chr12:42518600-42519600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:42518600-42519600	Enhancers	HepG2	liver
43	chr12:42518600-42519800	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:42518600-42519800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:42518600-42520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:42518600-42520400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:42518600-42520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:42518600-42520800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:42518600-42522800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:42518800-42519200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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