Variant report

Variant	rs2856321
Chromosome Location	chr12:11855773-11855774
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	chr12:11854972..11857020-chr12:11859743..11861863,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1009951	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1009953	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1009954	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10743967	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10845407	0.86[EUR][1000 genomes]
rs10845408	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs11054421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11054423	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11054424	0.86[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054425	0.93[JPT][hapmap]
rs11054429	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11054433	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs11054439	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs11615175	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs12228191	0.87[EUR][1000 genomes]
rs12369491	0.80[EUR][1000 genomes]
rs17818461	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs17818498	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs17818624	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2051525	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2187641	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187642	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2416882	0.87[EUR][1000 genomes]
rs2416883	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2724588	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2724616	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2724618	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2724633	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs2724645	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2724648	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2856322	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2856324	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2856344	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2860431	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2900208	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs2954980	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763719	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs4763720	0.87[EUR][1000 genomes]
rs4763721	0.87[EUR][1000 genomes]
rs7488701	0.87[EUR][1000 genomes]
rs762717	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs972798	0.87[EUR][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	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

Variant related diseases (count:2)

Disease	PMID	Source
Height	20881960	GWAS catalog
Height	23563607	GWAS catalog

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:11839400-11859000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:11840800-11859200	Weak transcription	Fetal Kidney	kidney
8	chr12:11841200-11856800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:11841800-11860200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:11844200-11864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:11846200-11858600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:11846800-11857000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:11847000-11859400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:11848000-11872200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:11848400-11858600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:11848400-11861200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:11848600-11858000	Weak transcription	HSMMtube	muscle
19	chr12:11848800-11859400	Weak transcription	Right Ventricle	heart
20	chr12:11848800-11861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:11849000-11859200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:11849400-11855800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:11849400-11856800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:11849400-11865000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:11850400-11858800	Weak transcription	Thymus	Thymus
27	chr12:11851200-11861000	Weak transcription	Primary B cells from cord blood	blood
28	chr12:11851400-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:11851600-11857000	Weak transcription	Aorta	Aorta
30	chr12:11851600-11857800	Weak transcription	Osteobl	bone
31	chr12:11852600-11855800	Genic enhancers	GM12878-XiMat	blood
32	chr12:11852800-11857800	Weak transcription	Liver	Liver
33	chr12:11853000-11859200	Weak transcription	Ovary	ovary
34	chr12:11853000-11872000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:11853200-11870400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:11854000-11857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:11854000-11858000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:11854200-11857000	Weak transcription	Small Intestine	intestine
39	chr12:11854600-11855800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:11854600-11856400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:11854600-11858000	Weak transcription	Fetal Heart	heart
42	chr12:11854600-11858000	Weak transcription	NH-A	brain
43	chr12:11854600-11859000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:11854800-11857800	Weak transcription	Fetal Lung	lung
45	chr12:11854800-11857800	Weak transcription	HUVEC	blood vessel
46	chr12:11854800-11858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:11854800-11858400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:11854800-11858600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:11854800-11859000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:11854800-11860200	Weak transcription	Fetal Muscle Trunk	muscle

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