Variant report

Variant	rs10137714
Chromosome Location	chr14:34933267-34933268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
2	chr14:34933163..34934738-chr14:35003028..35005166,2	K562	blood:
3	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
4	chr14:34931690..34933656-chr14:35005412..35007221,2	K562	blood:
5	chr14:34932436..34934680-chr14:34965867..34967830,2	K562	blood:
6	chr14:34931264..34933781-chr14:35036806..35039605,2	K562	blood:
7	chr14:34933203..34935041-chr14:34939513..34941719,2	K562	blood:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction
ENSG00000240463	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10132233	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs12432137	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap]
rs12434081	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2002517	0.95[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2383633	0.89[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2383634	0.95[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs28635949	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982180	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4982182	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4982183	0.89[CEU][hapmap];0.82[ASN][1000 genomes]
rs57186368	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61472699	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7152281	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154588	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs7156841	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74046057	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9806112	0.89[CEU][hapmap]
rs9989160	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10137714	FHL2	trans	lymphoblastoid	seeQTL
rs10137714	SRP54	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34932200-34934200	Weak transcription	Psoas Muscle	Psoas
2	chr14:34932200-34934400	Weak transcription	Brain Angular Gyrus	brain
3	chr14:34932200-34938000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:34932200-34938200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:34932400-34934000	Weak transcription	Adipose Nuclei	Adipose
6	chr14:34932400-34934000	Weak transcription	Esophagus	oesophagus
7	chr14:34932400-34934000	Weak transcription	Hela-S3	cervix
8	chr14:34932400-34934200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:34932400-34934200	Weak transcription	Primary B cells from cord blood	blood
10	chr14:34932400-34934200	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:34932400-34934200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:34932400-34934200	Weak transcription	HUVEC	blood vessel
13	chr14:34932400-34934400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:34932400-34934400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:34932400-34934400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:34932400-34934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:34932400-34934400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:34932400-34934400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:34932400-34934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:34932400-34934400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:34932400-34934400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:34932400-34934400	Weak transcription	Brain Anterior Caudate	brain
23	chr14:34932400-34934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:34932400-34934400	Weak transcription	Fetal Intestine Small	intestine
25	chr14:34932400-34934400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:34932400-34934400	Weak transcription	Stomach Mucosa	stomach
27	chr14:34932400-34934400	Weak transcription	GM12878-XiMat	blood
28	chr14:34932400-34934400	Enhancers	HepG2	liver
29	chr14:34932400-34934400	Enhancers	K562	blood
30	chr14:34932400-34934400	Weak transcription	NHDF-Ad	bronchial
31	chr14:34932400-34934400	Weak transcription	NHEK	skin
32	chr14:34932400-34934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:34932400-34934600	Weak transcription	Fetal Intestine Large	intestine
34	chr14:34932400-34934600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:34932400-34934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:34932400-34934600	Weak transcription	HMEC	breast
37	chr14:34932400-34934600	Weak transcription	NHLF	lung
38	chr14:34932400-34936000	Weak transcription	Spleen	Spleen
39	chr14:34932400-34937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:34932400-34937000	Weak transcription	Liver	Liver
41	chr14:34932400-34938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:34932400-34938200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:34932400-34942200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:34932600-34934000	Weak transcription	Dnd41	blood
45	chr14:34932600-34934200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:34932600-34934200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:34932600-34934400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:34932600-34934400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:34932600-34934400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:34932600-34934600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links