Variant report

Variant	rs58932234
Chromosome Location	chr2:10713271-10713272
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	chr2:10703297..10704818-chr2:10710965..10713487,2	K562	blood:
2	chr2:10711662..10714609-chr2:10716774..10718684,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1045596	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1045597	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1045598	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1045600	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10929675	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11679990	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11684569	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11695378	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695660	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151506	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12151843	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12464765	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12468357	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12474784	0.86[ASN][1000 genomes]
rs12992628	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12998328	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011270	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011439	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011892	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13018664	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13028945	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2160257	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2357651	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2884231	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34077349	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34187525	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35454239	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35488682	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35551831	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35922089	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3732114	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4640361	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4668688	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4668689	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669594	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669595	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56038505	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56090656	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56138710	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56667275	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57633878	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59399536	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61515414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62128614	0.85[ASN][1000 genomes]
rs6710687	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713013	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718912	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6735867	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736915	0.86[ASN][1000 genomes]
rs6748865	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750803	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6754178	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757809	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7570690	0.84[ASN][1000 genomes]
rs7571206	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7571318	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7595614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7598463	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7598994	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607611	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607627	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv828341	chr2:10712906-10713808	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
3	chr2:10702000-10715800	Weak transcription	Hela-S3	cervix
4	chr2:10702000-10717400	Weak transcription	Psoas Muscle	Psoas
5	chr2:10702200-10713800	Weak transcription	K562	blood
6	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:10706000-10713800	Weak transcription	HSMMtube	muscle
8	chr2:10706400-10713800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:10706400-10716000	Weak transcription	Fetal Kidney	kidney
10	chr2:10706400-10716600	Strong transcription	Fetal Intestine Small	intestine
11	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
14	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:10708800-10716000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:10708800-10718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
21	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:10709000-10718200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:10709000-10718600	Strong transcription	Dnd41	blood
24	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:10709200-10714000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:10709200-10715600	Strong transcription	HSMM	muscle
31	chr2:10709200-10718600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:10709200-10718600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:10709200-10719200	Strong transcription	Liver	Liver
34	chr2:10709200-10719800	Strong transcription	HepG2	liver
35	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:10709400-10713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:10709400-10714200	Strong transcription	NHEK	skin
38	chr2:10709400-10716200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:10709400-10716600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
41	chr2:10709600-10713400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:10709600-10718800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:10709800-10715800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:10709800-10719000	Strong transcription	Placenta	Placenta
45	chr2:10709800-10719600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:10710000-10716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:10710000-10717800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:10710200-10713800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:10710200-10715800	Weak transcription	NHLF	lung
50	chr2:10710200-10716400	Strong transcription	A549	lung

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