Variant report

Variant	rs57186368
Chromosome Location	chr14:34930523-34930524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34930470..34932730-chr14:35007965..35010227,2	K562	blood:
2	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
3	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
4	chr14:34841266..34842852-chr14:34928524..34930795,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10132233	0.83[ASN][1000 genomes]
rs10137714	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10144582	0.83[ASN][1000 genomes]
rs12432137	0.86[ASN][1000 genomes]
rs12434081	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2002517	0.94[ASN][1000 genomes]
rs2383633	0.87[ASN][1000 genomes]
rs2383634	0.94[ASN][1000 genomes]
rs28521575	0.94[ASN][1000 genomes]
rs28635949	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981241	0.89[ASN][1000 genomes]
rs4982178	0.86[ASN][1000 genomes]
rs4982179	0.89[ASN][1000 genomes]
rs4982180	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982182	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56241228	0.81[ASN][1000 genomes]
rs56728642	0.87[ASN][1000 genomes]
rs58203673	0.91[ASN][1000 genomes]
rs58663784	0.94[ASN][1000 genomes]
rs59394498	0.91[ASN][1000 genomes]
rs61472699	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152281	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154588	0.81[ASN][1000 genomes]
rs7156841	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74046052	0.83[ASN][1000 genomes]
rs74046054	0.87[ASN][1000 genomes]
rs74046057	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9783638	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3401129	chr14:34930451-34932699	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34917600-34930800	Weak transcription	Spleen	Spleen
2	chr14:34918000-34930600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:34920200-34930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:34921400-34930600	Weak transcription	Esophagus	oesophagus
5	chr14:34921400-34930600	Weak transcription	Pancreas	Pancrea
6	chr14:34922800-34930600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:34924200-34930600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:34924800-34930600	Weak transcription	Lung	lung
9	chr14:34925800-34930600	Weak transcription	Placenta	Placenta
10	chr14:34927000-34930600	Weak transcription	Left Ventricle	heart
11	chr14:34927800-34930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:34929000-34932000	Active TSS	NHLF	lung
13	chr14:34929000-34932400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:34929000-34932600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:34929200-34930800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:34929200-34932000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:34929200-34932400	Active TSS	HMEC	breast
18	chr14:34929400-34930600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:34929400-34930600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:34929400-34931800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:34929400-34932000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:34929400-34932000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:34929400-34932000	Active TSS	K562	blood
24	chr14:34929400-34932400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:34929600-34930600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:34929600-34930600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:34929600-34930800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:34929600-34930800	Flanking Active TSS	HUVEC	blood vessel
29	chr14:34929600-34932000	Active TSS	NHEK	skin
30	chr14:34929800-34930600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:34929800-34930600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:34929800-34931000	Flanking Active TSS	Dnd41	blood
33	chr14:34929800-34931800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:34929800-34931800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr14:34929800-34931800	Active TSS	Stomach Smooth Muscle	stomach
36	chr14:34929800-34932000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:34929800-34932000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:34929800-34932000	Active TSS	Hela-S3	cervix
39	chr14:34929800-34932000	Active TSS	NHDF-Ad	bronchial
40	chr14:34929800-34932200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:34929800-34932200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:34929800-34932200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr14:34929800-34932200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:34929800-34932200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:34929800-34932200	Active TSS	Psoas Muscle	Psoas
46	chr14:34929800-34932200	Active TSS	A549	lung
47	chr14:34929800-34932200	Active TSS	HSMMtube	muscle
48	chr14:34930000-34930600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr14:34930000-34930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:34930000-34930600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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