Variant report

Variant	rs7309133
Chromosome Location	chr12:49718726-49718727
allele	A/G
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	chr12:49718710-49718756	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49717382..49719680-chr12:49758980..49761177,3	K562	blood:
2	chr12:49715312..49722303-chr12:49739075..49744198,13	MCF-7	breast:
3	chr12:49657320..49660807-chr12:49714613..49719662,6	K562	blood:
4	chr12:49716623..49719210-chr12:49759055..49761901,3	MCF-7	breast:

Variant related genes	Relation type
TROAP	TF binding region
ENSG00000258334	TF binding region
ENSG00000123352	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000178401	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2303614	0.93[ASN][1000 genomes]
rs58403142	0.93[ASN][1000 genomes]
rs61237420	0.93[ASN][1000 genomes]
rs62636517	0.93[ASN][1000 genomes]
rs62636520	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49717400-49726800	Weak transcription	Right Atrium	heart
2	chr12:49717600-49723000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:49717600-49725000	Weak transcription	Pancreas	Pancrea
4	chr12:49717800-49722600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:49717800-49727000	Weak transcription	Esophagus	oesophagus
6	chr12:49718000-49719200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:49718000-49719200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:49718000-49719200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:49718000-49719200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:49718000-49719200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:49718000-49719200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:49718000-49719200	Weak transcription	Fetal Intestine Small	intestine
13	chr12:49718000-49719200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:49718000-49719200	Weak transcription	HepG2	liver
15	chr12:49718000-49719200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:49718000-49719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:49718000-49719400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:49718000-49719600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:49718000-49719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:49718000-49719800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:49718000-49720000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:49718000-49720000	Weak transcription	Osteobl	bone
23	chr12:49718000-49720400	Weak transcription	NH-A	brain
24	chr12:49718000-49721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:49718000-49721400	Strong transcription	A549	lung
26	chr12:49718000-49722600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:49718000-49722800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:49718000-49724600	Weak transcription	Spleen	Spleen
29	chr12:49718000-49724800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:49718000-49725000	Weak transcription	Colonic Mucosa	Colon
31	chr12:49718000-49725000	Weak transcription	Fetal Heart	heart
32	chr12:49718000-49725000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:49718000-49725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:49718000-49725200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:49718000-49725200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:49718000-49725400	Weak transcription	Placenta	Placenta
37	chr12:49718000-49726200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:49718000-49726400	Weak transcription	Primary B cells from cord blood	blood
39	chr12:49718000-49730200	Weak transcription	Gastric	stomach
40	chr12:49718200-49719000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:49718200-49719200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:49718200-49719200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:49718200-49719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:49718200-49719200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:49718200-49719200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:49718200-49719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:49718200-49719200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:49718200-49719200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:49718200-49719200	Weak transcription	NHLF	lung
50	chr12:49718200-49719400	Weak transcription	Thymus	Thymus

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