Variant report

Variant	rs2069202
Chromosome Location	chr10:28370003-28370004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10763638	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10763643	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10826396	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10826399	0.91[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11006830	0.81[CEU][hapmap]
rs11006851	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006852	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs11006854	0.85[EUR][1000 genomes]
rs12253376	0.81[CEU][hapmap]
rs12415916	0.83[ASN][1000 genomes]
rs1418758	1.00[JPT][hapmap]
rs1574418	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1781837	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1892394	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs1951935	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1951936	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801848	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2997211	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3802520	0.81[CEU][hapmap]
rs3885634	0.81[CEU][hapmap]
rs4399242	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749302	1.00[JPT][hapmap]
rs4749305	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4749307	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6481499	0.81[CEU][hapmap]
rs7085159	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7086023	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7478224	0.85[EUR][1000 genomes]
rs7478236	0.82[EUR][1000 genomes]
rs7478252	0.85[EUR][1000 genomes]
rs7894339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7894841	1.00[JPT][hapmap]
rs7895209	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7896041	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7897848	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7898446	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904206	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907597	1.00[JPT][hapmap]
rs7914592	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919895	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv831815	chr10:28235661-28407533	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv894988	chr10:28337570-28410989	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466855	chr10:28341783-28400835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv550284	chr10:28341783-28400835	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28341200-28377600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:28346200-28375400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:28347000-28375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:28347000-28380400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:28347000-28381000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:28347000-28412200	Weak transcription	Left Ventricle	heart
7	chr10:28347000-28414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:28347400-28374600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:28347400-28377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:28347400-28377200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:28348000-28381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:28349400-28376600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:28357200-28380200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:28364600-28375600	Weak transcription	Esophagus	oesophagus
15	chr10:28364600-28375600	Weak transcription	Fetal Stomach	stomach
16	chr10:28364600-28378800	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:28364800-28373200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:28364800-28373600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:28364800-28375400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:28364800-28375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:28364800-28375600	Weak transcription	Aorta	Aorta
22	chr10:28364800-28376800	Weak transcription	HSMM	muscle
23	chr10:28364800-28377600	Weak transcription	Fetal Heart	heart
24	chr10:28364800-28378400	Weak transcription	HSMMtube	muscle
25	chr10:28364800-28379600	Weak transcription	Adipose Nuclei	Adipose
26	chr10:28364800-28392000	Weak transcription	Gastric	stomach
27	chr10:28364800-28416600	Weak transcription	Pancreas	Pancrea
28	chr10:28365000-28375400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:28365000-28375400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr10:28365000-28379600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:28365200-28372000	Weak transcription	Fetal Intestine Large	intestine
32	chr10:28365200-28375400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:28365200-28376200	Weak transcription	Primary B cells from cord blood	blood
34	chr10:28365200-28379600	Weak transcription	HepG2	liver
35	chr10:28365200-28380200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:28365400-28371200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr10:28365400-28375400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:28365400-28375400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:28365600-28375600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:28365800-28375600	Weak transcription	Fetal Intestine Small	intestine
41	chr10:28367200-28373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:28367400-28374000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr10:28367400-28374200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:28367400-28378800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:28367800-28377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:28369400-28378800	Strong transcription	Primary T cells from cord blood	blood
48	chr10:28369600-28370800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:28369600-28371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:28369800-28370200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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