Variant report

Variant	rs2983349
Chromosome Location	chr10:52283091-52283092
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52272629..52275165-chr10:52281578..52283752,2	K562	blood:
2	chr10:52282243..52284789-chr10:52286027..52288655,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1028534	0.93[ASN][1000 genomes]
rs1203374	0.80[EUR][1000 genomes]
rs1203379	0.89[EUR][1000 genomes]
rs1203380	0.85[EUR][1000 genomes]
rs1203384	0.80[EUR][1000 genomes]
rs1203391	0.80[EUR][1000 genomes]
rs1203402	0.80[EUR][1000 genomes]
rs1203412	0.80[EUR][1000 genomes]
rs1203426	0.80[EUR][1000 genomes]
rs1203427	0.80[EUR][1000 genomes]
rs1209146	0.80[EUR][1000 genomes]
rs1211373	0.80[EUR][1000 genomes]
rs12569801	0.90[ASN][1000 genomes]
rs12569909	0.91[ASN][1000 genomes]
rs12571095	0.94[ASN][1000 genomes]
rs12573520	0.93[ASN][1000 genomes]
rs16937491	0.93[ASN][1000 genomes]
rs16937722	0.96[ASN][1000 genomes]
rs16937771	0.96[ASN][1000 genomes]
rs16937775	0.95[ASN][1000 genomes]
rs16937786	0.95[ASN][1000 genomes]
rs17179881	0.80[ASN][1000 genomes]
rs1880071	0.94[ASN][1000 genomes]
rs2024871	0.89[EUR][1000 genomes]
rs2064760	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2208035	0.94[EUR][1000 genomes]
rs2983346	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2983348	0.94[EUR][1000 genomes]
rs2983372	0.94[EUR][1000 genomes]
rs3011712	0.89[EUR][1000 genomes]
rs3011715	0.91[EUR][1000 genomes]
rs3011768	0.94[EUR][1000 genomes]
rs3011795	0.89[EUR][1000 genomes]
rs3739990	0.89[ASN][1000 genomes]
rs41427847	0.98[ASN][1000 genomes]
rs57015168	0.93[ASN][1000 genomes]
rs57748270	0.93[ASN][1000 genomes]
rs57999700	0.93[ASN][1000 genomes]
rs58383805	0.87[ASN][1000 genomes]
rs58642196	0.88[ASN][1000 genomes]
rs59510112	0.87[ASN][1000 genomes]
rs59512026	0.93[ASN][1000 genomes]
rs66546375	0.90[ASN][1000 genomes]
rs67761241	0.93[ASN][1000 genomes]
rs910818	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs910819	0.89[EUR][1000 genomes]
rs9416590	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv895391	chr10:52260398-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv895392	chr10:52263910-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv467193	chr10:52265265-52289664	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv550855	chr10:52265265-52289664	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52262200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:52271600-52300600	Weak transcription	Aorta	Aorta
3	chr10:52272400-52284600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:52272600-52302800	Weak transcription	Fetal Stomach	stomach
5	chr10:52272800-52288200	Weak transcription	HSMMtube	muscle
6	chr10:52273200-52285800	Weak transcription	K562	blood
7	chr10:52273200-52287200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:52273200-52287400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:52273200-52288400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:52273400-52283800	Weak transcription	Fetal Thymus	thymus
11	chr10:52273400-52286000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:52273400-52287000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr10:52273400-52287200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr10:52273600-52286800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:52273600-52287400	Weak transcription	GM12878-XiMat	blood
16	chr10:52273600-52289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:52273600-52298400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:52273600-52299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:52274000-52287200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:52274800-52288200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:52275200-52294200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:52275600-52285000	Weak transcription	Gastric	stomach
23	chr10:52275600-52286800	Weak transcription	Pancreas	Pancrea
24	chr10:52276200-52286200	Weak transcription	Fetal Heart	heart
25	chr10:52279400-52298200	Weak transcription	Fetal Intestine Small	intestine
26	chr10:52279600-52286600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:52279600-52286800	Weak transcription	Left Ventricle	heart
28	chr10:52279600-52290000	Weak transcription	Primary B cells from cord blood	blood
29	chr10:52279600-52298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:52279600-52298400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:52279600-52298800	Weak transcription	Lung	lung
32	chr10:52279800-52286400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:52279800-52286800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:52279800-52287200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr10:52279800-52298600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:52282200-52284600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr10:52282200-52285200	Enhancers	Brain Hippocampus Middle	brain
39	chr10:52282200-52286200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:52282200-52286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:52282400-52283200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr10:52282400-52284200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:52282400-52284200	Enhancers	Primary T cells from cord blood	blood
44	chr10:52282400-52284400	Enhancers	Brain Angular Gyrus	brain
45	chr10:52282400-52284600	Enhancers	Brain Cingulate Gyrus	brain
46	chr10:52282400-52284600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr10:52282400-52284600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:52282400-52284800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:52282400-52285400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:52282400-52285600	Enhancers	HUES64 Cell Line	embryonic stem cell

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