Variant report

Variant	rs7975559
Chromosome Location	chr12:33006482-33006483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1046116	0.86[EUR][1000 genomes]
rs11612954	0.83[EUR][1000 genomes]
rs11615313	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615926	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11616075	0.92[ASN][1000 genomes]
rs12099507	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543624	0.92[ASN][1000 genomes]
rs17543896	0.85[EUR][1000 genomes]
rs2168207	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34634865	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60549952	0.81[EUR][1000 genomes]
rs7302486	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302979	0.83[EUR][1000 genomes]
rs73303664	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963225	0.86[EUR][1000 genomes];1.00[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:42 , 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	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:32992000-33007200	Weak transcription	Stomach Mucosa	stomach
8	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
9	chr12:32993400-33013600	Weak transcription	Pancreas	Pancrea
10	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
11	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
12	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:33000200-33012400	Weak transcription	Right Atrium	heart
14	chr12:33000400-33020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:33003200-33019400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:33003200-33022800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:33003400-33007800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:33003800-33012600	Weak transcription	HMEC	breast
19	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:33004000-33007600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:33004000-33009200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:33004000-33009400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:33004000-33009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:33004000-33011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:33004000-33012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:33004000-33012400	Weak transcription	NHEK	skin
27	chr12:33004000-33015000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:33004000-33017400	Weak transcription	Placenta	Placenta
29	chr12:33004000-33020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:33004000-33020000	Weak transcription	HepG2	liver
31	chr12:33004000-33020200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:33004000-33030400	Weak transcription	Gastric	stomach
33	chr12:33004200-33007800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:33004200-33011200	Weak transcription	Liver	Liver
35	chr12:33004200-33011600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:33004200-33015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:33004400-33019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:33004800-33007400	Enhancers	Fetal Heart	heart
40	chr12:33005400-33008600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:33005600-33006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:33005800-33006800	Enhancers	Left Ventricle	heart

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