Variant report

Variant	rs12288625
Chromosome Location	chr11:17029413-17029414
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17027622..17030583-chr11:17098379..17100590,2	K562	blood:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10734250	0.91[EUR][1000 genomes]
rs10741719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741721	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741722	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832713	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10832715	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832718	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832719	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10832720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832721	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024111	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605426	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365483	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418132	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12808675	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1468489	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34437677	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502475	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34819854	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35115039	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4351794	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756881	0.82[EUR][1000 genomes]
rs4756882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4756883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757467	0.82[EUR][1000 genomes]
rs4757479	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4757482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757483	0.91[EUR][1000 genomes]
rs4757484	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757485	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757489	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881311	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486332	0.87[EUR][1000 genomes]
rs6486335	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6486336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486337	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486339	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486340	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6486341	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486344	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7101679	0.87[EUR][1000 genomes]
rs7117262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484746	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481059	0.87[EUR][1000 genomes]
rs7926143	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7928955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7929923	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7930890	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931025	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933984	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937479	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7940499	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947897	0.85[EUR][1000 genomes]
rs992698	0.84[EUR][1000 genomes];0.86[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17004800-17034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17006400-17034000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17009400-17032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:17009800-17030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:17009800-17032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:17009800-17032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:17013400-17033800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:17016400-17034600	Weak transcription	Aorta	Aorta
9	chr11:17016600-17030800	Weak transcription	Fetal Kidney	kidney
10	chr11:17018800-17032000	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:17019000-17032600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:17019400-17034800	Weak transcription	Lung	lung
13	chr11:17019800-17034600	Weak transcription	Right Ventricle	heart
14	chr11:17021000-17034000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:17021000-17034200	Weak transcription	Colonic Mucosa	Colon
16	chr11:17021200-17034600	Weak transcription	Right Atrium	heart
17	chr11:17021400-17030400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:17022000-17034600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:17023200-17032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17023200-17033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:17024000-17029600	Weak transcription	Fetal Stomach	stomach
22	chr11:17025600-17029600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:17025600-17029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:17025600-17032600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:17026000-17029600	Weak transcription	Fetal Intestine Large	intestine
26	chr11:17026800-17029600	Weak transcription	Gastric	stomach
27	chr11:17026800-17032200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:17027200-17029600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:17027200-17029800	Weak transcription	Esophagus	oesophagus
30	chr11:17027400-17029600	Weak transcription	Adipose Nuclei	Adipose
31	chr11:17027400-17029600	Weak transcription	Stomach Mucosa	stomach
32	chr11:17027800-17029800	Weak transcription	HepG2	liver
33	chr11:17027800-17032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:17028400-17029600	Weak transcription	A549	lung
35	chr11:17028600-17032600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:17028800-17029800	Weak transcription	Left Ventricle	heart
37	chr11:17028800-17032600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:17028800-17033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:17029000-17030200	Weak transcription	Psoas Muscle	Psoas
40	chr11:17029200-17030800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:17029200-17030800	Enhancers	Liver	Liver
42	chr11:17029400-17030000	Enhancers	Brain Anterior Caudate	brain
43	chr11:17029400-17030200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:17029400-17030800	Enhancers	Pancreas	Pancrea

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