Variant report

Variant	rs10199308
Chromosome Location	chr2:191099986-191099987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10168769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196444	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10204936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11900898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406328	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1595997	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16832459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067383	0.89[EUR][1000 genomes]
rs2119463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2119464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2195466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582734	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2582741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2582756	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2664250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2664254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2664257	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291408	0.89[ASN][1000 genomes]
rs291416	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs291433	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291443	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291454	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291473	0.89[EUR][1000 genomes]
rs2966469	0.87[ASN][1000 genomes]
rs59924974	0.83[EUR][1000 genomes]
rs61248221	0.90[ASN][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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:191056800-191131800	Weak transcription	NHEK	skin
4	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
6	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
10	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:191077200-191100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:191079400-191109400	Weak transcription	NH-A	brain
13	chr2:191079800-191106600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:191081000-191107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:191081600-191107400	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:191081800-191100200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:191081800-191108800	Weak transcription	Fetal Heart	heart
18	chr2:191082000-191106600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:191082000-191107000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:191082000-191107000	Weak transcription	Left Ventricle	heart
21	chr2:191082000-191107200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:191082000-191107200	Weak transcription	Brain Anterior Caudate	brain
23	chr2:191082000-191107800	Weak transcription	Pancreas	Pancrea
24	chr2:191082600-191107000	Weak transcription	Right Ventricle	heart
25	chr2:191082800-191107200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:191083800-191106800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:191084800-191106600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:191087000-191108000	Weak transcription	K562	blood
29	chr2:191088400-191106800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:191088400-191107000	Weak transcription	Fetal Brain Male	brain
31	chr2:191088600-191106800	Weak transcription	HepG2	liver
32	chr2:191088800-191106600	Weak transcription	Fetal Thymus	thymus
33	chr2:191088800-191106800	Weak transcription	HSMMtube	muscle
34	chr2:191088800-191107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:191089000-191100000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:191089000-191100000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:191089000-191100000	Weak transcription	Ovary	ovary
38	chr2:191089000-191100600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:191089000-191106200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:191089000-191106200	Weak transcription	Fetal Lung	lung
41	chr2:191089000-191106200	Weak transcription	Placenta	Placenta
42	chr2:191089000-191106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191089000-191106600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:191089000-191106600	Weak transcription	Fetal Kidney	kidney
45	chr2:191089000-191106600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:191089000-191106600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:191089000-191106800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:191089000-191106800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:191089000-191107000	Weak transcription	Primary B cells from cord blood	blood
50	chr2:191089000-191107000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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