Variant report

Variant	rs7155699
Chromosome Location	chr14:20786009-20786010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:20785890-20786242	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:20785568-20786355	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:20784055-20788798	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:20785834-20786319	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:20785521-20786432	K562	blood:	n/a	n/a
6	POLR2A	chr14:20785537-20786330	K562	blood:	n/a	n/a
7	POLR2A	chr14:20785473-20786614	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:20785893-20786131	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:20785951-20786251	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:20785958-20786259	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:20784846-20787465	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:20785555-20786199	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:20785924-20786194	K562	blood:	n/a	n/a
14	POLR2A	chr14:20785590-20786576	K562	blood:	n/a	n/a
15	POLR2A	chr14:20785866-20786230	HL-60	blood:	n/a	n/a
16	POLR2A	chr14:20785852-20786166	K562	blood:	n/a	n/a
17	POLR2A	chr14:20785610-20786147	A549	lung:	n/a	n/a
18	POLR2A	chr14:20785875-20786342	GM12892	blood:	n/a	n/a
19	POLR2A	chr14:20785885-20786328	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:20785984-20786199	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20781277..20783476-chr14:20785985..20787602,2	MCF-7	breast:
2	chr14:20782975..20784944-chr14:20785832..20787681,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC5-4	chr14:20785755-20786133	NONHSAT035560

No data

Variant related genes	Relation type
CCNB1IP1	TF binding region
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10148359	0.83[MEX][hapmap]
rs10873395	0.80[CEU][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs11622655	0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12891805	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1889362	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297616	1.00[ASW][hapmap];0.80[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2318864	0.91[CHD][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap]
rs2700	0.84[ASW][hapmap];0.81[GIH][hapmap]
rs3093872	0.85[LWK][hapmap]
rs3093882	0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3093890	1.00[ASW][hapmap];0.80[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3093902	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs3093904	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs3093907	0.84[ASW][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap]
rs3093933	0.84[ASW][hapmap];0.83[GIH][hapmap];0.94[MKK][hapmap]
rs3093939	0.84[ASW][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap]
rs3093942	0.84[ASW][hapmap]
rs3742945	0.91[CHD][hapmap];0.83[JPT][hapmap]
rs4981150	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981153	0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981158	0.83[MEX][hapmap]
rs4981957	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981983	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4981998	0.81[EUR][1000 genomes]
rs57101853	0.81[EUR][1000 genomes]
rs58530849	0.81[EUR][1000 genomes]
rs6575124	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575135	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009242	0.85[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014147	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022565	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022671	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878157	0.84[ASW][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap]
rs884368	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323870	0.81[EUR][1000 genomes];0.82[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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7155699	RPPH1	cis	multi-tissue	Pritchard
rs7155699	PARP2	cis	multi-tissue	Pritchard
rs7155699	PARP2	cis	parietal	SCAN
rs7155699	CCNB1IP1	cis	cerebellum	SCAN
rs7155699	OR4N5	cis	parietal	SCAN
rs7155699	PARP2	cis	cerebellum	SCAN
rs7155699	TTC5	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
4	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
7	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
8	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
11	chr14:20774400-20787200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:20779400-20787000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:20779400-20788400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:20779400-20788600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:20779400-20788800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:20779400-20788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:20779400-20790200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:20779400-20794000	Strong transcription	Left Ventricle	heart
21	chr14:20779400-20794200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:20779400-20794800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr14:20779400-20794800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:20779400-20795000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:20779400-20795000	Strong transcription	Osteobl	bone
26	chr14:20779400-20795200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:20779400-20795200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:20779400-20795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:20779600-20787400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:20779600-20787400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:20779600-20787400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:20779600-20787600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:20779600-20788400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:20779600-20788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:20779600-20788600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr14:20779600-20788600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:20779600-20788600	Strong transcription	HSMM	muscle
43	chr14:20779600-20788800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:20779600-20788800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:20779600-20788800	Strong transcription	Adipose Nuclei	Adipose
46	chr14:20779600-20789000	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:20779600-20789400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:20779600-20789800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:20779600-20790800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:20779600-20793000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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