Variant report

Variant	rs12437059
Chromosome Location	chr14:35326831-35326832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35326748..35329780-chr14:35341273..35343392,3	K562	blood:
2	chr14:35248368..35250493-chr14:35326583..35328999,2	K562	blood:
3	chr14:35314685..35317355-chr14:35325389..35326932,2	K562	blood:
4	chr14:35326620..35331114-chr14:35341178..35344775,5	K562	blood:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1200395	0.87[ASN][1000 genomes]
rs12434654	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17102754	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17102817	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17102823	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1953431	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4270078	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs45547237	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981249	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4981254	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982225	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982227	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5005325	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7143293	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761924	0.87[ASN][1000 genomes]
rs8010444	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
4	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
6	chr14:35295200-35327000	Weak transcription	Spleen	Spleen
7	chr14:35307000-35333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:35312200-35336200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:35312600-35328600	Weak transcription	Fetal Kidney	kidney
10	chr14:35312600-35335200	Weak transcription	Right Ventricle	heart
11	chr14:35312800-35328000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:35312800-35328200	Weak transcription	Stomach Mucosa	stomach
13	chr14:35312800-35330600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:35312800-35331600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:35312800-35336600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:35312800-35341400	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
19	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
20	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
21	chr14:35313000-35330800	Weak transcription	Adipose Nuclei	Adipose
22	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
23	chr14:35318200-35331400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:35318400-35330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:35318400-35342200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:35319200-35331600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:35320200-35332200	Strong transcription	HepG2	liver
28	chr14:35320400-35330400	Weak transcription	HMEC	breast
29	chr14:35320800-35329400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:35321000-35328000	Weak transcription	Osteobl	bone
31	chr14:35321600-35331400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:35321800-35342400	Weak transcription	Gastric	stomach
33	chr14:35322000-35331600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:35322200-35329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35322400-35330200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:35322600-35341400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:35322800-35330000	Strong transcription	Fetal Intestine Small	intestine
38	chr14:35322800-35330600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:35322800-35341200	Weak transcription	HSMMtube	muscle
40	chr14:35322800-35342200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:35323000-35328200	Weak transcription	HUVEC	blood vessel
42	chr14:35323000-35330400	Weak transcription	Fetal Brain Female	brain
43	chr14:35323200-35328000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:35323200-35328200	Weak transcription	Liver	Liver
45	chr14:35323200-35341800	Weak transcription	NHLF	lung
46	chr14:35323400-35328400	Strong transcription	NHEK	skin
47	chr14:35323400-35329400	Weak transcription	Fetal Intestine Large	intestine
48	chr14:35323600-35327000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:35323800-35342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:35324000-35327400	Weak transcription	HSMM	muscle

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