Variant report

Variant	rs2168207
Chromosome Location	chr12:33014525-33014526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:33014333-33014533	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000244743	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1046116	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs11611761	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs11612954	0.97[EUR][1000 genomes]
rs11615313	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615926	0.92[ASN][1000 genomes]
rs11616075	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12099507	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543624	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17543896	0.95[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs34634865	0.85[ASN][1000 genomes]
rs60549952	0.94[EUR][1000 genomes]
rs7302486	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302979	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs7313522	0.88[EUR][1000 genomes]
rs73303664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975559	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv976595	chr12:33010536-33021896	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	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: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	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
5	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
7	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
8	chr12:32997800-33044400	Weak transcription	Hela-S3	cervix
9	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:33000400-33020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:33003200-33019400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:33003200-33022800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:33003800-33030400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:33004000-33015000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:33004000-33017400	Weak transcription	Placenta	Placenta
16	chr12:33004000-33020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:33004000-33020000	Weak transcription	HepG2	liver
18	chr12:33004000-33020200	Weak transcription	Fetal Intestine Large	intestine
19	chr12:33004000-33030400	Weak transcription	Gastric	stomach
20	chr12:33004200-33015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:33004200-33028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:33004400-33019600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:33007800-33016200	Weak transcription	Stomach Mucosa	stomach
24	chr12:33008200-33019600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:33008200-33019800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:33010400-33019200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:33011800-33021800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:33012000-33020000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:33012000-33029000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:33012000-33031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:33012600-33015600	Weak transcription	Liver	Liver
32	chr12:33012800-33014600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:33013200-33015200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:33013200-33020000	Weak transcription	Left Ventricle	heart
35	chr12:33013400-33014800	Enhancers	Fetal Heart	heart
36	chr12:33013400-33015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:33013400-33019600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:33013600-33016000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:33013600-33019600	Weak transcription	HMEC	breast
40	chr12:33013800-33020200	Weak transcription	Pancreas	Pancrea
41	chr12:33014000-33014600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:33014200-33014600	Enhancers	NHEK	skin

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