Variant report

Variant	rs4944017
Chromosome Location	chr11:72614189-72614190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751221	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751223	1.00[YRI][hapmap]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2365907	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs2449665	1.00[MKK][hapmap]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs493315	1.00[MKK][hapmap]
rs4944015	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4944811	1.00[MKK][hapmap]
rs4944812	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944817	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs508532	1.00[MKK][hapmap]
rs537980	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560258	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs640283	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7936863	1.00[MKK][hapmap]
rs7937866	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7950432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][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	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

No data

Chromatin state (count:71 , 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	chr11:72577200-72651600	Weak transcription	Gastric	stomach
4	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
6	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
8	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:72597200-72634200	Weak transcription	NHLF	lung
10	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:72599200-72614800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
15	chr11:72599800-72614800	Weak transcription	Brain Germinal Matrix	brain
16	chr11:72600800-72615000	Weak transcription	Fetal Intestine Large	intestine
17	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:72600800-72653200	Weak transcription	Lung	lung
20	chr11:72601000-72614400	Weak transcription	Fetal Stomach	stomach
21	chr11:72601000-72614800	Weak transcription	Fetal Intestine Small	intestine
22	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
24	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
25	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
26	chr11:72601200-72614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:72601200-72615200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:72601200-72616400	Weak transcription	Adipose Nuclei	Adipose
29	chr11:72601200-72616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:72601200-72617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:72601200-72617600	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:72601200-72617600	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:72601200-72617800	Weak transcription	Fetal Lung	lung
34	chr11:72601200-72619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:72601200-72622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:72601200-72623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:72601200-72623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:72601200-72636000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:72601400-72615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:72601400-72615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:72601400-72615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:72601400-72616200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:72601400-72619400	Weak transcription	Dnd41	blood
44	chr11:72601400-72632400	Weak transcription	Ovary	ovary
45	chr11:72601800-72636000	Weak transcription	Osteobl	bone
46	chr11:72602200-72636800	Weak transcription	Left Ventricle	heart
47	chr11:72605600-72624000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:72607000-72643000	Weak transcription	HSMM	muscle
49	chr11:72607600-72614800	Weak transcription	Brain Anterior Caudate	brain
50	chr11:72607600-72615000	Weak transcription	Primary T cells from cord blood	blood

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