Variant report

Variant	rs9973374
Chromosome Location	chr2:10716384-10716385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10716323..10719861-chr2:10722961..10726442,3	MCF-7	breast:
2	chr2:10715800..10717815-chr2:10720072..10721815,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10084172	0.87[ASN][1000 genomes]
rs10166765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10168351	0.89[ASN][1000 genomes]
rs10168852	0.89[ASN][1000 genomes]
rs10174605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10175555	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10175884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177062	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10178751	0.89[ASN][1000 genomes]
rs10179854	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10182589	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10188373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199635	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199831	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10202370	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10207885	0.89[ASN][1000 genomes]
rs10208103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803724	0.88[ASN][1000 genomes]
rs10803725	0.88[ASN][1000 genomes]
rs10929676	0.85[AFR][1000 genomes]
rs10929677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929678	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929679	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929680	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929681	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12473957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12622053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12690510	0.82[ASN][1000 genomes]
rs12692410	0.85[AFR][1000 genomes]
rs12692412	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692414	0.85[ASN][1000 genomes]
rs12995465	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996735	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009015	0.88[ASN][1000 genomes]
rs13027090	0.85[AFR][1000 genomes]
rs13424648	0.87[ASN][1000 genomes]
rs13425171	0.89[ASN][1000 genomes]
rs13427815	0.93[AMR][1000 genomes];0.91[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	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884232	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595606	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55750243	0.89[ASN][1000 genomes]
rs62127189	0.88[ASN][1000 genomes]
rs62128635	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432105	0.81[ASN][1000 genomes]
rs6711473	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714787	0.89[ASN][1000 genomes]
rs6717431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6720112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6722126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6730247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732429	0.89[ASN][1000 genomes]
rs6740245	0.88[ASN][1000 genomes]
rs6751436	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6755281	0.88[ASN][1000 genomes]
rs7572489	0.89[ASN][1000 genomes]
rs7589694	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759401	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598541	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9287718	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9973367	0.85[AFR][1000 genomes]
rs9973456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973566	0.83[AFR][1000 genomes]
rs9973572	0.85[AFR][1000 genomes]
rs9973898	0.85[AFR][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	chr2:10706400-10716600	Strong transcription	Fetal Intestine Small	intestine
5	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
8	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:10708800-10718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
14	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:10709000-10718200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:10709000-10718600	Strong transcription	Dnd41	blood
17	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:10709200-10718600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:10709200-10718600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:10709200-10719200	Strong transcription	Liver	Liver
25	chr2:10709200-10719800	Strong transcription	HepG2	liver
26	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:10709400-10716600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
29	chr2:10709600-10718800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:10709800-10719000	Strong transcription	Placenta	Placenta
31	chr2:10709800-10719600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:10710000-10716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:10710000-10717800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:10710200-10716400	Strong transcription	A549	lung
35	chr2:10710400-10718400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:10710400-10720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:10710600-10717800	Strong transcription	Fetal Stomach	stomach
38	chr2:10710600-10718400	Strong transcription	Adipose Nuclei	Adipose
39	chr2:10710600-10718400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:10710600-10718600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:10710800-10721800	Weak transcription	Fetal Heart	heart
42	chr2:10711000-10719400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:10711400-10716400	Weak transcription	Brain Anterior Caudate	brain
44	chr2:10711400-10716600	Weak transcription	Colonic Mucosa	Colon
45	chr2:10711600-10717800	Strong transcription	Lung	lung
46	chr2:10712000-10717800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:10712200-10717200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:10712600-10716400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:10712600-10717400	Weak transcription	Right Ventricle	heart
50	chr2:10712600-10718600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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