Variant report

Variant	rs974728
Chromosome Location	chr12:11934852-11934853
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	chr12:11933115..11935435-chr12:11937428..11939790,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1894331	0.85[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894332	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2213231	0.89[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2723829	0.83[ASW][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.80[ASN][1000 genomes]
rs2856328	0.82[GIH][hapmap];1.00[YRI][hapmap]
rs3825082	0.83[ASW][hapmap]
rs7310017	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs974728	OLR1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11915400-11938000	Weak transcription	NHEK	skin
2	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:11919400-11935000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:11919600-11936200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:11919600-11936800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:11920000-11937800	Weak transcription	NHLF	lung
8	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
10	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:11925800-11938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11925800-11938000	Weak transcription	HMEC	breast
13	chr12:11926600-11936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:11927000-11936000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:11927400-11937400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:11927800-11946200	Weak transcription	Gastric	stomach
18	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
19	chr12:11928200-11936800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:11928200-11938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:11929000-11938200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:11929800-11935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:11929800-11946200	Weak transcription	HUVEC	blood vessel
24	chr12:11929800-11948600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:11930000-11943200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:11930800-11935000	Enhancers	Colon Smooth Muscle	Colon
27	chr12:11930800-11938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:11931200-11943800	Weak transcription	Ovary	ovary
29	chr12:11931200-11951600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:11931400-11936800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:11931400-11937000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:11931400-11940800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:11931400-11946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:11931400-11951200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:11931400-11951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:11931600-11935000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:11931600-11946200	Weak transcription	Lung	lung
38	chr12:11931600-11947200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:11931600-11950200	Weak transcription	Esophagus	oesophagus
40	chr12:11931800-11938400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:11931800-11946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:11932000-11937000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:11932200-11937200	Weak transcription	Left Ventricle	heart
44	chr12:11932200-11938400	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:11932200-11940400	Weak transcription	Small Intestine	intestine
46	chr12:11932400-11938200	Weak transcription	Brain Substantia Nigra	brain
47	chr12:11932400-11938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:11932400-11938600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:11932400-11946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:11932600-11938000	Weak transcription	Brain Anterior Caudate	brain

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