Variant report

Variant	rs7142286
Chromosome Location	chr14:31454838-31454839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31454546..31456657-chr14:31675532..31677690,2	K562	blood:
2	chr14:31453719..31455508-chr14:31466401..31468964,2	MCF-7	breast:
3	chr14:31454676..31457967-chr14:31492507..31496946,4	MCF-7	breast:
4	chr14:31449675..31451460-chr14:31453567..31455215,2	K562	blood:
5	chr14:31454381..31456866-chr14:31494760..31497508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129393	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs10150991	0.82[ASN][1000 genomes]
rs10483354	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1474800	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097598	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs179716	0.89[ASN][1000 genomes]
rs179729	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179732	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1955562	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1955563	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1955566	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2179932	0.94[CHB][hapmap];0.92[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3736743	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3742920	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981083	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4981801	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61116407	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153166	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs7158412	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158988	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73256099	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73257912	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73260377	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74040963	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8008339	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010398	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs8010967	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020369	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635154	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:31436400-31457200	Weak transcription	HSMM	muscle
6	chr14:31436400-31457800	Weak transcription	NHEK	skin
7	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
10	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:31441200-31457400	Weak transcription	NH-A	brain
13	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
15	chr14:31442400-31494400	Weak transcription	Gastric	stomach
16	chr14:31442600-31457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:31443400-31460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:31444200-31457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:31444200-31459800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
26	chr14:31444400-31460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:31444800-31455800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:31445000-31458200	Weak transcription	Psoas Muscle	Psoas
29	chr14:31445000-31460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:31445800-31455000	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:31445800-31459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:31446400-31457000	Weak transcription	Fetal Stomach	stomach
33	chr14:31446600-31459800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:31449600-31457800	Weak transcription	HMEC	breast
37	chr14:31450400-31456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:31450800-31455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:31451000-31455600	Weak transcription	A549	lung
40	chr14:31451200-31455600	Weak transcription	Liver	Liver
41	chr14:31451200-31458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:31452000-31460400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:31452200-31460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:31452600-31458200	Weak transcription	K562	blood
46	chr14:31452600-31459800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:31453000-31457000	Weak transcription	HepG2	liver
48	chr14:31453800-31460000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:31453800-31460600	Weak transcription	Primary B cells from cord blood	blood
50	chr14:31454000-31458400	Weak transcription	Lung	lung

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