Variant report

Variant	rs73396159
Chromosome Location	chr12:105218031-105218032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105212787..105215531-chr12:105216343..105219007,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1038969	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10778350	0.86[EUR][1000 genomes]
rs11112189	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11834087	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307301	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12320887	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12321404	0.86[EUR][1000 genomes]
rs12579202	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579469	0.90[ASN][1000 genomes]
rs12579505	0.88[ASN][1000 genomes]
rs12579945	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580114	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580128	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580794	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581352	0.85[AFR][1000 genomes]
rs12582312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565814	0.91[AMR][1000 genomes]
rs17036358	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17036433	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17036489	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036545	0.90[ASN][1000 genomes]
rs4369494	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4545639	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57144501	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57685442	0.91[ASN][1000 genomes]
rs59079144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60976244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61129422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61262317	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61587191	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301525	0.83[ASN][1000 genomes]
rs7302213	0.86[EUR][1000 genomes]
rs73383408	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73383420	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73383435	0.91[ASN][1000 genomes]
rs73383439	0.87[ASN][1000 genomes]
rs73383441	0.91[ASN][1000 genomes]
rs73383446	0.84[AFR][1000 genomes]
rs73383467	0.90[ASN][1000 genomes]
rs73383473	0.90[ASN][1000 genomes]
rs73394174	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73394185	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394186	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73396157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399912	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73399925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399934	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73399944	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73399947	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399956	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73399960	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73399965	0.84[AFR][1000 genomes]
rs73399968	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971315	0.86[EUR][1000 genomes]
rs7971613	0.86[EUR][1000 genomes]
rs7976092	0.89[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105197600-105218400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:105199800-105218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:105201200-105218200	Weak transcription	Gastric	stomach
4	chr12:105201400-105220600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:105205000-105218400	Weak transcription	Fetal Stomach	stomach
6	chr12:105211000-105219200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:105211800-105218200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:105214000-105219400	Weak transcription	Psoas Muscle	Psoas
10	chr12:105214200-105218400	Weak transcription	Aorta	Aorta
11	chr12:105214200-105218400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:105214200-105221800	Weak transcription	Pancreas	Pancrea
13	chr12:105215800-105219200	Weak transcription	Liver	Liver
14	chr12:105216200-105218200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:105216200-105218400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105217800-105218200	Flanking Active TSS	K562	blood
17	chr12:105217800-105218400	ZNF genes & repeats	Esophagus	oesophagus
18	chr12:105217800-105218400	ZNF genes & repeats	Spleen	Spleen
19	chr12:105217800-105218600	Weak transcription	Colonic Mucosa	Colon
20	chr12:105217800-105218600	Enhancers	Fetal Brain Male	brain
21	chr12:105217800-105219200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:105217800-105219200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:105217800-105219800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:105218000-105218600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr12:105218000-105220000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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