Variant report

Variant	rs4944814
Chromosome Location	chr11:72605456-72605457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1025411	1.00[EUR][1000 genomes]
rs10732893	0.89[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736788	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736789	1.00[EUR][1000 genomes]
rs10736791	0.89[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10751219	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898888	1.00[EUR][1000 genomes]
rs10898892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235608	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[EUR][1000 genomes]
rs1380574	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380575	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1864651	0.82[AFR][1000 genomes]
rs2060072	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2365906	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3903492	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4373969	1.00[EUR][1000 genomes]
rs4594026	1.00[EUR][1000 genomes]
rs4944015	0.91[EUR][1000 genomes]
rs4944019	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944817	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs508532	1.00[JPT][hapmap]
rs55787543	1.00[EUR][1000 genomes]
rs55823053	0.91[AFR][1000 genomes]
rs55838097	1.00[EUR][1000 genomes]
rs55888199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56133665	1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[EUR][1000 genomes]
rs56316448	1.00[EUR][1000 genomes]
rs57731198	1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[EUR][1000 genomes]
rs60219481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812177	1.00[EUR][1000 genomes]
rs60877622	1.00[EUR][1000 genomes]
rs6592494	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592495	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6592502	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102424	1.00[EUR][1000 genomes]
rs7107817	1.00[EUR][1000 genomes]
rs7115321	1.00[EUR][1000 genomes]
rs7117786	1.00[EUR][1000 genomes]
rs7118144	0.89[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122566	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130559	1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7930535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs898384	1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975261	0.89[ASW][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994305	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv975362	chr11:72598491-72611417	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
4	chr11:72577200-72651600	Weak transcription	Gastric	stomach
5	chr11:72581200-72609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
8	chr11:72582800-72605800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
11	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
13	chr11:72597200-72612200	Weak transcription	Aorta	Aorta
14	chr11:72597200-72634200	Weak transcription	NHLF	lung
15	chr11:72597600-72606800	Weak transcription	Brain Anterior Caudate	brain
16	chr11:72597600-72609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:72599200-72606200	Weak transcription	NHEK	skin
20	chr11:72599200-72613200	Weak transcription	Fetal Brain Female	brain
21	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:72599200-72614800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:72599400-72607200	Weak transcription	NHDF-Ad	bronchial
24	chr11:72599400-72613400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
26	chr11:72599600-72605800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:72599800-72614800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:72600800-72606800	Weak transcription	Placenta	Placenta
29	chr11:72600800-72615000	Weak transcription	Fetal Intestine Large	intestine
30	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:72600800-72653200	Weak transcription	Lung	lung
33	chr11:72601000-72606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:72601000-72607400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:72601000-72607400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:72601000-72608600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:72601000-72611600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:72601000-72612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:72601000-72614400	Weak transcription	Fetal Stomach	stomach
40	chr11:72601000-72614800	Weak transcription	Fetal Intestine Small	intestine
41	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
43	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
44	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
45	chr11:72601200-72605600	Weak transcription	HSMM	muscle
46	chr11:72601200-72606600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:72601200-72611400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:72601200-72612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:72601200-72614000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:72601200-72614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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