Variant report

Variant	rs12434654
Chromosome Location	chr14:35339046-35339047
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	chr14:35338833-35339589	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:35338674-35339417	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:35339021-35339272	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:35338932-35339397	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35338698..35340202-chr14:35451944..35454852,2	K562	blood:
2	chr14:35329109..35331182-chr14:35336949..35340434,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	TF binding region
ENSG00000100883	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10147194	0.91[JPT][hapmap]
rs1200395	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12437059	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17102754	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17102817	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102823	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1953431	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4270078	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs45547237	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4981249	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4981254	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4982225	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982227	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5005325	0.85[AMR][1000 genomes]
rs7143293	0.93[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs761924	0.86[ASN][1000 genomes]
rs8010444	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv976829	chr14:35332947-35341310	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
3	chr14:35312800-35341400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
6	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
7	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
8	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
9	chr14:35318400-35342200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:35321800-35342400	Weak transcription	Gastric	stomach
11	chr14:35322600-35341400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:35322800-35341200	Weak transcription	HSMMtube	muscle
13	chr14:35322800-35342200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:35323200-35341800	Weak transcription	NHLF	lung
15	chr14:35323800-35342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:35324600-35341600	Weak transcription	Fetal Lung	lung
17	chr14:35324600-35342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:35324800-35342200	Weak transcription	Ovary	ovary
19	chr14:35327000-35341600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:35327000-35342400	Weak transcription	Esophagus	oesophagus
21	chr14:35327200-35342400	Weak transcription	Spleen	Spleen
22	chr14:35327600-35341200	Weak transcription	Thymus	Thymus
23	chr14:35327600-35341400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:35327800-35341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:35329600-35342200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:35330000-35341400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:35330000-35341600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:35330000-35341600	Weak transcription	Fetal Stomach	stomach
29	chr14:35331200-35340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:35331200-35341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:35331200-35341400	Weak transcription	NHDF-Ad	bronchial
32	chr14:35331200-35341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:35331200-35341600	Weak transcription	Placenta	Placenta
34	chr14:35331200-35341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:35331200-35341800	Weak transcription	Osteobl	bone
36	chr14:35331200-35342000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:35331200-35342200	Weak transcription	Fetal Brain Female	brain
38	chr14:35331400-35341200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:35331400-35341200	Weak transcription	Adipose Nuclei	Adipose
40	chr14:35331400-35341400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:35331400-35341600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:35331400-35342200	Weak transcription	A549	lung
43	chr14:35331600-35340800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:35331600-35341200	Weak transcription	HUVEC	blood vessel
45	chr14:35331600-35342200	Weak transcription	Liver	Liver
46	chr14:35333000-35339600	Strong transcription	Dnd41	blood
47	chr14:35333200-35340800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:35333200-35341200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:35334000-35341000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35334200-35341000	Strong transcription	Primary monocytes fromperipheralblood	blood

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