Variant report

Variant	rs12885600
Chromosome Location	chr14:35009296-35009297
allele	G/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	EGR1	chr14:35009242-35009423	K562	blood:	n/a	n/a
2	HEY1	chr14:35009181-35010349	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:35008593-35009310	SK-N-SH	brain:	n/a	n/a
4	MBD4	chr14:35009283-35009958	HepG2	liver:	n/a	n/a
5	TEAD4	chr14:35009204-35011384	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:35008352-35010040	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:35007986-35009835	MCF10A-Er-Src	breast:	n/a	n/a
8	HEY1	chr14:35008313-35011449	HepG2	liver:	n/a	chr14:35008911-35008926
9	SP1	chr14:35008568-35009306	H1-hESC	embryonic stem cell:	n/a	chr14:35009024-35009031 chr14:35009025-35009037 chr14:35009044-35009053 chr14:35009026-35009035 chr14:35009004-35009016 chr14:35009027-35009036 chr14:35009043-35009053 chr14:35008990-35009004 chr14:35009027-35009036 chr14:35009006-35009015 chr14:35009042-35009054 chr14:35008576-35008590 chr14:35009001-35009015 chr14:35009042-35009054
10	YY1	chr14:35008359-35009887	HepG2	liver:	n/a	n/a
11	YY1	chr14:35008548-35009454	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:35008415-35009312	PFSK-1	brain:	n/a	n/a
13	FOXA2	chr14:35007889-35009540	HepG2	liver:	n/a	n/a
14	TAF1	chr14:35008408-35009304	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr14:35009218-35009489	K562	blood:	n/a	n/a
16	POLR2A	chr14:35008443-35009338	PBDE	blood:	n/a	n/a
17	GABPA	chr14:35008177-35009387	MCF-7	breast:	n/a	chr14:35008955-35008969 chr14:35008952-35008966
18	SP1	chr14:35008358-35011497	HepG2	liver:	n/a	chr14:35009024-35009031 chr14:35009025-35009037 chr14:35009044-35009053 chr14:35009026-35009035 chr14:35009004-35009016 chr14:35009027-35009036 chr14:35009043-35009053 chr14:35008990-35009004 chr14:35009027-35009036 chr14:35009006-35009015 chr14:35009838-35009852 chr14:35009042-35009054 chr14:35008576-35008590 chr14:35009001-35009015 chr14:35009042-35009054
19	MBD4	chr14:35009204-35010029	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:35008273-35009450	H1-hESC	embryonic stem cell:	n/a	n/a
21	HCFC1	chr14:35007928-35009595	Hela-S3	cervix:	n/a	n/a
22	GTF3C2	chr14:35009157-35009567	Hela-S3	cervix:	n/a	n/a
23	YY1	chr14:35008445-35009527	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFIC	chr14:35009215-35009968	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:35008406-35010121	K562	blood:	n/a	n/a
26	POLR2A	chr14:35007694-35009897	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:35008482-35009383	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:35008352-35010918	HepG2	liver:	n/a	n/a
29	MYBL2	chr14:35007950-35011284	HepG2	liver:	n/a	n/a
30	MYBL2	chr14:35008048-35011030	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
2	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
3	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
4	chr14:35009037..35010904-chr14:35021766..35024411,2	K562	blood:
5	chr14:35007550..35010317-chr14:35342022..35344512,2	K562	blood:
6	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
7	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
8	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
9	chr14:35005104..35007114-chr14:35007414..35009874,3	K562	blood:
10	chr14:34930470..34932730-chr14:35007965..35010227,2	K562	blood:

Variant related genes	Relation type
EAPP	TF binding region
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000206596	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10131004	0.81[EUR][1000 genomes]
rs10134534	0.94[EUR][1000 genomes]
rs10151832	0.85[EUR][1000 genomes]
rs10872887	0.85[EUR][1000 genomes]
rs11156850	0.86[EUR][1000 genomes]
rs12147164	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432069	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12883317	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12886486	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28537636	0.86[EUR][1000 genomes]
rs4304943	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4453379	0.95[EUR][1000 genomes]
rs4562976	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567613	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55938117	0.85[EUR][1000 genomes]
rs60370017	0.84[EUR][1000 genomes]
rs6571659	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6571661	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571662	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6571664	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7151142	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7151482	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153635	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7154505	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7155411	0.84[EUR][1000 genomes]
rs72673455	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72675226	0.85[EUR][1000 genomes]
rs72675236	0.85[EUR][1000 genomes]
rs8010374	0.82[ASN][1000 genomes]
rs8012555	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8013554	0.93[EUR][1000 genomes]
rs8013954	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018918	0.84[EUR][1000 genomes]
rs8019311	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019739	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
9	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35007000-35009400	Active TSS	Fetal Intestine Large	intestine
2	chr14:35007000-35009400	Active TSS	GM12878-XiMat	blood
3	chr14:35007000-35009600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:35007000-35009800	Active TSS	Colonic Mucosa	Colon
5	chr14:35007200-35009400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:35007200-35009400	Active TSS	Fetal Intestine Small	intestine
7	chr14:35007200-35009400	Active TSS	Ovary	ovary
8	chr14:35007200-35009400	Active TSS	Right Atrium	heart
9	chr14:35007200-35009400	Active TSS	Right Ventricle	heart
10	chr14:35007200-35009400	Active TSS	K562	blood
11	chr14:35007200-35009400	Active TSS	NHLF	lung
12	chr14:35007200-35009800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:35007400-35009400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:35007400-35009400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:35007400-35009800	Active TSS	Hela-S3	cervix
16	chr14:35007600-35009400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr14:35007600-35009400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:35007600-35009400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:35007600-35009400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:35007600-35009400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:35007600-35009400	Active TSS	Aorta	Aorta
22	chr14:35007600-35009400	Active TSS	Psoas Muscle	Psoas
23	chr14:35007600-35009400	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:35007600-35009400	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr14:35007600-35009400	Active TSS	A549	lung
26	chr14:35007600-35009400	Active TSS	NHDF-Ad	bronchial
27	chr14:35007600-35009800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:35007800-35009400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:35007800-35009400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:35007800-35009400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr14:35007800-35009400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:35007800-35009400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:35007800-35009400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:35007800-35009400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35007800-35009400	Active TSS	Brain Anterior Caudate	brain
36	chr14:35007800-35009400	Active TSS	Brain Hippocampus Middle	brain
37	chr14:35007800-35009400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:35007800-35009400	Active TSS	Pancreas	Pancrea
39	chr14:35007800-35009400	Bivalent/Poised TSS	HepG2	liver
40	chr14:35007800-35009400	Active TSS	HSMMtube	muscle
41	chr14:35007800-35009600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr14:35007800-35009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:35007800-35009600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr14:35007800-35009600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr14:35007800-35009600	Active TSS	Fetal Kidney	kidney
46	chr14:35007800-35009600	Active TSS	Stomach Mucosa	stomach
47	chr14:35007800-35009800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr14:35008000-35009400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr14:35008000-35009400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr14:35008000-35009400	Active TSS	Duodenum Mucosa	Duodenum

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