Variant report

Variant	rs62127197
Chromosome Location	chr2:10778876-10778877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10084172	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10167779	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168351	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10168852	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10178751	0.88[ASN][1000 genomes]
rs10183359	0.88[ASN][1000 genomes]
rs10183883	0.83[ASN][1000 genomes]
rs10186984	0.88[ASN][1000 genomes]
rs10207885	0.88[ASN][1000 genomes]
rs10803724	0.87[ASN][1000 genomes]
rs10803725	0.87[ASN][1000 genomes]
rs10929683	0.88[ASN][1000 genomes]
rs10929684	0.88[ASN][1000 genomes]
rs10929685	0.88[ASN][1000 genomes]
rs11676409	0.81[ASN][1000 genomes]
rs11680664	0.88[ASN][1000 genomes]
rs11684537	0.88[ASN][1000 genomes]
rs12104950	0.88[ASN][1000 genomes]
rs12474625	0.86[ASN][1000 genomes]
rs12475662	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12476554	0.88[ASN][1000 genomes]
rs12613769	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12618726	0.88[ASN][1000 genomes]
rs12690510	0.80[ASN][1000 genomes]
rs12692414	0.84[ASN][1000 genomes]
rs12692420	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009015	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027316	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13407040	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424648	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13425171	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13430911	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1861299	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1861300	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2024432	0.88[ASN][1000 genomes]
rs2024433	0.88[ASN][1000 genomes]
rs35859525	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750243	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55974540	0.89[ASN][1000 genomes]
rs56011298	0.86[ASN][1000 genomes]
rs62127189	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714787	0.88[ASN][1000 genomes]
rs6732429	0.88[ASN][1000 genomes]
rs6740245	0.89[ASN][1000 genomes]
rs6755281	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs744809	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572489	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9287721	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
3	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10740200-10782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
8	chr2:10746600-10781800	Weak transcription	Right Ventricle	heart
9	chr2:10746800-10781800	Weak transcription	Pancreas	Pancrea
10	chr2:10747000-10781800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:10753600-10792800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:10754800-10796000	Weak transcription	Small Intestine	intestine
13	chr2:10756200-10795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:10758000-10782000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:10761000-10782200	Weak transcription	NHLF	lung
17	chr2:10761000-10783000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:10761200-10782400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:10761200-10782800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:10761800-10782000	Weak transcription	Gastric	stomach
21	chr2:10761800-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:10762000-10793600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:10764200-10780400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:10765600-10787200	Weak transcription	Fetal Brain Male	brain
25	chr2:10771800-10793400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:10772200-10793400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:10772400-10785000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:10772400-10793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:10772600-10780600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:10772800-10783200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:10773000-10780600	Strong transcription	Dnd41	blood
33	chr2:10773000-10784400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:10773800-10780000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:10773800-10781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:10774600-10781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:10774600-10789800	Weak transcription	Fetal Kidney	kidney
38	chr2:10775000-10780200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:10775000-10780800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:10775000-10781800	Weak transcription	Fetal Brain Female	brain
41	chr2:10775000-10782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:10775000-10782200	Weak transcription	HSMM	muscle
43	chr2:10775000-10787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:10775000-10793000	Weak transcription	Psoas Muscle	Psoas
45	chr2:10775000-10793800	Weak transcription	Stomach Mucosa	stomach
46	chr2:10775000-10794200	Weak transcription	HUVEC	blood vessel
47	chr2:10775200-10779600	Weak transcription	A549	lung
48	chr2:10775200-10782600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:10775400-10784600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:10775600-10780000	Strong transcription	Lung	lung

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