Variant report

Variant	rs12434957
Chromosome Location	chr14:69394386-69394387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69385464..69388113-chr14:69393207..69396129,2	K562	blood:
2	chr14:69393285..69394901-chr14:69397519..69399946,2	MCF-7	breast:
3	chr14:69392677..69394471-chr14:69400892..69402453,2	MCF-7	breast:
4	chr14:69393526..69396798-chr14:69399350..69401820,3	K562	blood:
5	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
6	chr14:69392307..69395175-chr14:69395494..69398200,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10130940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136928	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220357	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220358	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220562	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220679	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101054	0.85[JPT][hapmap]
rs17106536	1.00[YRI][hapmap]
rs194718	0.85[JPT][hapmap]
rs2093010	0.85[JPT][hapmap]
rs2273419	0.85[JPT][hapmap]
rs73288945	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059828	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743127	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
4	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:69387000-69395000	Weak transcription	Fetal Kidney	kidney
9	chr14:69387000-69402600	Weak transcription	K562	blood
10	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:69387800-69394600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69389400-69397400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
15	chr14:69390000-69397800	Weak transcription	Brain Anterior Caudate	brain
16	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:69390200-69402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:69391600-69394400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:69391600-69395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:69391600-69396400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:69391800-69394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:69391800-69395000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:69391800-69397800	Strong transcription	HSMM	muscle
25	chr14:69391800-69403600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:69392000-69394600	Strong transcription	Fetal Stomach	stomach
27	chr14:69392000-69394600	Strong transcription	Osteobl	bone
28	chr14:69392000-69394800	Weak transcription	Fetal Heart	heart
29	chr14:69392400-69394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:69392400-69394600	Weak transcription	Fetal Lung	lung
31	chr14:69392400-69394600	Weak transcription	Right Ventricle	heart
32	chr14:69392400-69394800	Weak transcription	Left Ventricle	heart
33	chr14:69392400-69395800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:69392400-69397800	Weak transcription	NHDF-Ad	bronchial
35	chr14:69392400-69404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:69392400-69404400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:69392600-69394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:69392600-69394800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:69392600-69395000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:69392600-69395000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:69392600-69395000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:69392600-69396000	Weak transcription	Colonic Mucosa	Colon
43	chr14:69392600-69397600	Weak transcription	HSMMtube	muscle
44	chr14:69392600-69400600	Weak transcription	HUVEC	blood vessel
45	chr14:69392800-69394400	ZNF genes & repeats	HepG2	liver
46	chr14:69392800-69394800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:69392800-69396400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:69393000-69394800	Weak transcription	Fetal Intestine Large	intestine
50	chr14:69393000-69395000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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