Variant report

Variant	rs10151131
Chromosome Location	chr14:67724778-67724779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67717953..67720005-chr14:67723957..67726126,2	K562	blood:
2	chr14:67722215..67724352-chr14:67724413..67726414,2	MCF-7	breast:
3	chr14:67723510..67725186-chr14:67725575..67728208,2	MCF-7	breast:
4	chr14:67717694..67719444-chr14:67723330..67725776,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130606	0.83[EUR][1000 genomes]
rs10136835	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141049	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145458	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150612	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379190	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379449	0.89[AFR][1000 genomes]
rs17104018	0.83[EUR][1000 genomes]
rs28410937	0.83[EUR][1000 genomes]
rs28503899	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35236021	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144147	0.83[EUR][1000 genomes]
rs7154820	0.83[EUR][1000 genomes]
rs7156177	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8013980	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014465	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016480	0.84[AMR][1000 genomes];0.83[EUR][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	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67708800-67730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67709400-67730000	Weak transcription	Fetal Stomach	stomach
4	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
7	chr14:67710200-67728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
9	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:67714800-67729200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:67714800-67729800	Weak transcription	HUVEC	blood vessel
13	chr14:67715000-67730200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:67718400-67729600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:67718400-67730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:67718600-67729200	Weak transcription	HepG2	liver
17	chr14:67718800-67725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:67718800-67725000	Weak transcription	Esophagus	oesophagus
19	chr14:67718800-67727200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:67718800-67734000	Weak transcription	NHEK	skin
21	chr14:67718800-67734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:67718800-67735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:67719200-67725000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:67719200-67727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:67719200-67733600	Weak transcription	Left Ventricle	heart
26	chr14:67719400-67730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:67719400-67732000	Weak transcription	Gastric	stomach
28	chr14:67719400-67734400	Weak transcription	HSMMtube	muscle
29	chr14:67719400-67735200	Weak transcription	Lung	lung
30	chr14:67719400-67735200	Weak transcription	Psoas Muscle	Psoas
31	chr14:67719400-67735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:67719800-67734400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:67720000-67728600	Weak transcription	Liver	Liver
34	chr14:67720000-67730000	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:67720000-67730000	Weak transcription	Ovary	ovary
36	chr14:67720000-67730200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:67720000-67730400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:67720000-67732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:67720200-67729800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:67720200-67730000	Weak transcription	Aorta	Aorta
41	chr14:67720400-67734400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:67720600-67726400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:67720600-67729200	Weak transcription	Fetal Lung	lung
44	chr14:67720600-67730400	Weak transcription	Small Intestine	intestine
45	chr14:67720600-67733600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:67720600-67734400	Weak transcription	GM12878-XiMat	blood
47	chr14:67720600-67734400	Weak transcription	HMEC	breast
48	chr14:67721200-67725600	Strong transcription	HSMM	muscle
49	chr14:67721200-67735200	Weak transcription	Colonic Mucosa	Colon
50	chr14:67721400-67726800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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