Variant report

Variant	rs2247610
Chromosome Location	chr2:37217467-37217468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1015599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019311	1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs2540921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540934	0.80[YRI][hapmap]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.83[AMR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2691113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6758058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924989	1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs964853	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37229000	Weak transcription	Gastric	stomach
2	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37194800-37232400	Weak transcription	NHLF	lung
4	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:37195400-37227400	Weak transcription	A549	lung
9	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
10	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
12	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:37196200-37226400	Weak transcription	Dnd41	blood
14	chr2:37201000-37225200	Weak transcription	K562	blood
15	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
16	chr2:37202800-37228800	Weak transcription	Aorta	Aorta
17	chr2:37203600-37231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:37204200-37227600	Weak transcription	HepG2	liver
19	chr2:37204400-37228800	Weak transcription	Esophagus	oesophagus
20	chr2:37205200-37220800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:37205200-37229400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:37205600-37225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:37206200-37218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:37206400-37218200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:37206800-37227400	Weak transcription	NHEK	skin
26	chr2:37207000-37225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:37207800-37224400	Weak transcription	Fetal Lung	lung
28	chr2:37207800-37225400	Weak transcription	Primary B cells from cord blood	blood
29	chr2:37208600-37226400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:37208800-37227600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:37209000-37225400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:37209000-37225400	Weak transcription	GM12878-XiMat	blood
33	chr2:37209000-37228600	Weak transcription	Psoas Muscle	Psoas
34	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
35	chr2:37210200-37217600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:37210200-37227600	Weak transcription	Fetal Heart	heart
37	chr2:37210600-37224000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:37211200-37221800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:37211400-37238200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:37211800-37218200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:37211800-37221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:37212400-37229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:37212600-37225400	Weak transcription	HSMM	muscle
44	chr2:37212800-37218000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:37212800-37218400	Strong transcription	Adipose Nuclei	Adipose
46	chr2:37212800-37232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:37213000-37218400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:37213200-37221800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:37213200-37227400	Weak transcription	Hela-S3	cervix
50	chr2:37213400-37218200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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