Variant report

Variant	rs11610892
Chromosome Location	chr12:42516769-42516770
allele	C/G
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: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11611399	0.89[AMR][1000 genomes]
rs11613623	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812537	0.89[AMR][1000 genomes]
rs12813181	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819127	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819341	0.86[AMR][1000 genomes]
rs12823639	0.89[AMR][1000 genomes]
rs12824857	0.98[EUR][1000 genomes]
rs1492364	0.94[CEU][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap]
rs17224170	0.94[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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17224177	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1872444	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]
rs2406566	0.81[ASN][1000 genomes]
rs34152211	0.98[EUR][1000 genomes]
rs34329231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331898	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619605	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34669984	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34827386	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34842994	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35644702	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35682620	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986152	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3990974	0.86[AMR][1000 genomes]
rs4264206	0.89[AMR][1000 genomes]
rs56142563	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58891308	0.89[AMR][1000 genomes]
rs60278477	0.81[ASN][1000 genomes]
rs60870773	0.81[ASN][1000 genomes]
rs61279714	0.93[AFR][1000 genomes];0.96[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	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68185827	0.85[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
rs11610892	ZCRB1	cis	lymphoblastoid	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:42476000-42524400	Weak transcription	Gastric	stomach
4	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
5	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
6	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
7	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
8	chr12:42492200-42518600	Weak transcription	K562	blood
9	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
14	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
16	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:42505800-42518800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:42505800-42518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:42505800-42518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
24	chr12:42505800-42537000	Weak transcription	Lung	lung
25	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:42508800-42517000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:42509800-42518600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:42509800-42518800	Weak transcription	Brain Germinal Matrix	brain
30	chr12:42510000-42518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:42511000-42518800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:42511600-42518800	Weak transcription	NHEK	skin
34	chr12:42511800-42518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:42511800-42518800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:42511800-42518800	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:42511800-42518800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:42512000-42519000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:42512000-42522200	Weak transcription	HMEC	breast
40	chr12:42512000-42537400	Weak transcription	Ovary	ovary
41	chr12:42512400-42519000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:42512400-42520800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:42512400-42521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:42512400-42523800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:42512400-42523800	Weak transcription	HSMM	muscle
46	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
47	chr12:42512600-42517600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:42512600-42518200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:42512600-42518400	Weak transcription	Fetal Intestine Large	intestine
50	chr12:42512600-42518600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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