Variant report

Variant	rs11952623
Chromosome Location	chr5:76133613-76133614
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	chr5:76133609-76133964	HCT-116	colon:	n/a	n/a
2	POLR2A	chr5:76131046-76138228	A549	lung:	n/a	n/a

Variant related genes	Relation type
RN7SL208P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10058498	0.83[ASN][1000 genomes]
rs10059976	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243026	0.80[ASN][1000 genomes]
rs2243051	0.82[ASN][1000 genomes]
rs2243053	0.82[ASN][1000 genomes]
rs2243057	0.82[ASN][1000 genomes]
rs2243059	0.82[ASN][1000 genomes]
rs66946336	0.81[ASN][1000 genomes]
rs6880329	0.85[ASN][1000 genomes]
rs7709688	0.85[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv994503	chr5:76129230-76144182	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11952623	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:76117400-76134200	Weak transcription	Stomach Mucosa	stomach
3	chr5:76117400-76135200	Weak transcription	Colonic Mucosa	Colon
4	chr5:76118800-76134600	Weak transcription	HepG2	liver
5	chr5:76127000-76134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:76127200-76134600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:76127400-76134200	Weak transcription	Osteobl	bone
8	chr5:76127800-76134400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:76128000-76134600	Weak transcription	Small Intestine	intestine
10	chr5:76129200-76134800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:76129400-76134800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:76129600-76134600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:76129800-76134400	Weak transcription	NHLF	lung
14	chr5:76129800-76135800	Weak transcription	Pancreas	Pancrea
15	chr5:76130200-76134200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:76130200-76134600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:76130200-76134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:76130200-76135800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:76130200-76137200	Weak transcription	Esophagus	oesophagus
20	chr5:76130400-76134200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:76130400-76134200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:76130400-76134200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:76130400-76134200	Weak transcription	Gastric	stomach
24	chr5:76130400-76134400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:76130400-76135600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:76130400-76140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:76130600-76134200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:76130600-76134600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:76130800-76134800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:76131800-76134200	Enhancers	NH-A	brain
31	chr5:76132000-76134200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:76132200-76135400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:76132200-76145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:76132600-76134200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:76132600-76134200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:76132800-76136800	Enhancers	Fetal Intestine Large	intestine
37	chr5:76133000-76133800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:76133000-76134000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:76133000-76134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:76133000-76134000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:76133000-76134000	Weak transcription	A549	lung
42	chr5:76133000-76134000	Weak transcription	Hela-S3	cervix
43	chr5:76133000-76134200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:76133000-76134200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:76133000-76134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:76133000-76134200	Weak transcription	HMEC	breast
47	chr5:76133000-76134200	Weak transcription	NHDF-Ad	bronchial
48	chr5:76133000-76134800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:76133000-76135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:76133000-76135000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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