Variant report

Variant	rs11615926
Chromosome Location	chr12:33004265-33004266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11611761	0.81[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11615313	0.92[ASN][1000 genomes]
rs11616075	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099507	0.92[ASN][1000 genomes]
rs17543624	0.89[CEU][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168207	0.92[ASN][1000 genomes]
rs34634865	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7299220	1.00[YRI][hapmap]
rs7302486	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7313522	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73303664	0.92[ASN][1000 genomes]
rs7963225	0.92[ASN][1000 genomes]
rs7975559	0.88[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:46 , 50 per page) page: 1

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	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
6	chr12:32974600-33004400	Weak transcription	Ovary	ovary
7	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:32992000-33007200	Weak transcription	Stomach Mucosa	stomach
9	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
10	chr12:32993400-33013600	Weak transcription	Pancreas	Pancrea
11	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
12	chr12:32996400-33005800	Weak transcription	Left Ventricle	heart
13	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
14	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:32998800-33005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:32999000-33005400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:33000200-33012400	Weak transcription	Right Atrium	heart
18	chr12:33000400-33020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:33003000-33004800	Weak transcription	Fetal Heart	heart
20	chr12:33003200-33019400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:33003200-33022800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:33003400-33007800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:33003600-33004400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:33003800-33004400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:33003800-33012600	Weak transcription	HMEC	breast
26	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:33004000-33005200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:33004000-33007600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:33004000-33009200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:33004000-33009400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:33004000-33009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:33004000-33011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:33004000-33012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:33004000-33012400	Weak transcription	NHEK	skin
35	chr12:33004000-33015000	Weak transcription	Fetal Intestine Small	intestine
36	chr12:33004000-33017400	Weak transcription	Placenta	Placenta
37	chr12:33004000-33020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:33004000-33020000	Weak transcription	HepG2	liver
39	chr12:33004000-33020200	Weak transcription	Fetal Intestine Large	intestine
40	chr12:33004000-33030400	Weak transcription	Gastric	stomach
41	chr12:33004200-33004600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:33004200-33007800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:33004200-33011200	Weak transcription	Liver	Liver
44	chr12:33004200-33011600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:33004200-33015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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