Variant report

Variant	rs12995465
Chromosome Location	chr2:10716828-10716829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10711662..10714609-chr2:10716774..10718684,2	K562	blood:
2	chr2:10716323..10719861-chr2:10722961..10726442,3	MCF-7	breast:
3	chr2:10715800..10717815-chr2:10720072..10721815,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10084172	0.87[ASN][1000 genomes]
rs10166765	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10168351	0.89[ASN][1000 genomes]
rs10168852	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10174605	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10175555	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10175884	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10178751	0.89[ASN][1000 genomes]
rs10179854	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10182589	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10183359	0.89[ASN][1000 genomes]
rs10183883	0.84[ASN][1000 genomes]
rs10186984	0.89[ASN][1000 genomes]
rs10187659	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10188373	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190673	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190774	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198971	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199635	0.87[ASN][1000 genomes]
rs10199831	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10202370	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10207885	0.89[ASN][1000 genomes]
rs10208103	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211190	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803724	0.88[ASN][1000 genomes]
rs10803725	0.88[ASN][1000 genomes]
rs10929677	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929678	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929679	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929680	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929681	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929683	0.89[ASN][1000 genomes]
rs10929684	0.89[ASN][1000 genomes]
rs10929685	0.89[ASN][1000 genomes]
rs11680664	0.89[ASN][1000 genomes]
rs11684537	0.89[ASN][1000 genomes]
rs12104950	0.89[ASN][1000 genomes]
rs12329184	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473787	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473957	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476554	0.89[ASN][1000 genomes]
rs12613769	0.89[ASN][1000 genomes]
rs12618726	0.89[ASN][1000 genomes]
rs12621977	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12622053	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12690510	0.82[ASN][1000 genomes]
rs12692411	0.81[AFR][1000 genomes]
rs12692412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692414	0.85[ASN][1000 genomes]
rs12996735	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009015	0.88[ASN][1000 genomes]
rs13424648	0.87[ASN][1000 genomes]
rs13425171	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13427815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13430911	0.88[ASN][1000 genomes]
rs1861299	0.88[ASN][1000 genomes]
rs1861300	0.88[ASN][1000 genomes]
rs2024432	0.89[ASN][1000 genomes]
rs2024433	0.89[ASN][1000 genomes]
rs2160258	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884232	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595606	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750243	0.89[ASN][1000 genomes]
rs62127189	0.88[ASN][1000 genomes]
rs62128635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432105	0.81[ASN][1000 genomes]
rs6711473	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714787	0.89[ASN][1000 genomes]
rs6717431	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720112	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721857	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6722126	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6730247	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732429	0.89[ASN][1000 genomes]
rs6740245	0.88[ASN][1000 genomes]
rs6751436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755281	0.88[ASN][1000 genomes]
rs7572489	0.89[ASN][1000 genomes]
rs7589694	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598541	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9287718	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9973374	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973456	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10702000-10717400	Weak transcription	Psoas Muscle	Psoas
3	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:10708800-10718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
13	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:10709000-10718200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:10709000-10718600	Strong transcription	Dnd41	blood
16	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:10709200-10718600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:10709200-10718600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:10709200-10719200	Strong transcription	Liver	Liver
24	chr2:10709200-10719800	Strong transcription	HepG2	liver
25	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
27	chr2:10709600-10718800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:10709800-10719000	Strong transcription	Placenta	Placenta
29	chr2:10709800-10719600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:10710000-10717800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:10710400-10718400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:10710400-10720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:10710600-10717800	Strong transcription	Fetal Stomach	stomach
34	chr2:10710600-10718400	Strong transcription	Adipose Nuclei	Adipose
35	chr2:10710600-10718400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:10710600-10718600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:10710800-10721800	Weak transcription	Fetal Heart	heart
38	chr2:10711000-10719400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:10711600-10717800	Strong transcription	Lung	lung
40	chr2:10712000-10717800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:10712200-10717200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:10712600-10717400	Weak transcription	Right Ventricle	heart
43	chr2:10712600-10718600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:10712600-10720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:10713000-10717200	Weak transcription	Aorta	Aorta
47	chr2:10713200-10718000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:10713400-10718600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:10713600-10718400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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