Variant report

Variant	rs11611761
Chromosome Location	chr12:33025612-33025613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:33023484..33026312-chr12:33027563..33029941,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1046116	0.81[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10506100	1.00[JPT][hapmap]
rs11612954	0.90[EUR][1000 genomes]
rs11615313	0.90[EUR][1000 genomes]
rs11615926	0.81[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11616075	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12099507	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs12580531	1.00[JPT][hapmap]
rs12821132	1.00[JPT][hapmap]
rs16920249	1.00[JPT][hapmap]
rs17543624	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17543896	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1869652	1.00[JPT][hapmap]
rs2168207	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs34634865	0.83[EUR][1000 genomes]
rs60549952	0.87[EUR][1000 genomes]
rs7299220	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7301619	1.00[JPT][hapmap]
rs7302979	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs7313522	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303664	0.91[EUR][1000 genomes]
rs7963225	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
5	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
6	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
7	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:33004000-33030400	Weak transcription	Gastric	stomach
10	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:33012000-33029000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:33012000-33031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:33014800-33030400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:33014800-33041200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:33017000-33030400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:33017000-33030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:33018400-33029200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:33018600-33026000	Weak transcription	Esophagus	oesophagus
19	chr12:33019200-33027400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:33019600-33027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:33020200-33032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:33020400-33026800	Weak transcription	HepG2	liver
23	chr12:33020400-33029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:33020400-33030600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:33022000-33028400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:33022200-33025800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:33022200-33028200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:33022200-33028800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:33022200-33028800	Weak transcription	Liver	Liver
30	chr12:33022200-33030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:33022200-33033400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:33022400-33030400	Weak transcription	Pancreas	Pancrea
33	chr12:33022600-33028800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:33023000-33030400	Weak transcription	Fetal Stomach	stomach
35	chr12:33023400-33026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:33023400-33027200	Weak transcription	Right Atrium	heart
37	chr12:33023400-33029600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:33024200-33026000	Strong transcription	Left Ventricle	heart
39	chr12:33024200-33026400	Weak transcription	Fetal Intestine Large	intestine
40	chr12:33024200-33027000	Weak transcription	NHEK	skin
41	chr12:33024200-33028600	Weak transcription	HMEC	breast
42	chr12:33024800-33028600	Enhancers	Stomach Mucosa	stomach
43	chr12:33024800-33032800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:33025000-33025800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:33025000-33026800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:33025000-33032200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:33025200-33027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:33025200-33032200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:33025400-33025800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:33025400-33026000	Strong transcription	Placenta	Placenta

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