Variant report

Variant	rs12436083
Chromosome Location	chr14:34971821-34971822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34971305..34972902-chr14:35021634..35023858,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12433953	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs17102551	1.00[GIH][hapmap]
rs28498042	0.96[EUR][1000 genomes]
rs4982185	0.85[EUR][1000 genomes]
rs55665158	0.91[AMR][1000 genomes]
rs7141443	0.93[EUR][1000 genomes]
rs7148006	1.00[EUR][1000 genomes]
rs7155698	1.00[EUR][1000 genomes]
rs72673447	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72673450	0.82[EUR][1000 genomes]
rs72673453	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7766	0.91[AMR][1000 genomes]
rs8005596	0.91[AMR][1000 genomes]
rs8016810	1.00[GIH][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9805947	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34966400-34985400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:34967000-34985200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:34967000-34985200	Weak transcription	Fetal Lung	lung
4	chr14:34967600-34972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:34967600-34972000	Weak transcription	Colonic Mucosa	Colon
6	chr14:34967600-34985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:34967800-34984800	Weak transcription	Fetal Stomach	stomach
8	chr14:34968400-34974400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:34968400-34975200	Weak transcription	Stomach Mucosa	stomach
10	chr14:34968400-34984800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:34969800-34974800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:34970600-34972600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:34971000-34972400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:34971000-34972800	Enhancers	HSMMtube	muscle
15	chr14:34971000-34972800	Enhancers	Osteobl	bone
16	chr14:34971000-34986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:34971200-34972200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:34971200-34972200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:34971200-34972200	Enhancers	HSMM	muscle
20	chr14:34971200-34972200	Enhancers	NHDF-Ad	bronchial
21	chr14:34971200-34972400	Enhancers	HepG2	liver
22	chr14:34971200-34972600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:34971400-34972200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:34971400-34972200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:34971400-34972200	Enhancers	Ovary	ovary
26	chr14:34971400-34972600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:34971400-34972600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:34971400-34972800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:34971400-34972800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:34971400-34972800	Enhancers	HUVEC	blood vessel
31	chr14:34971600-34972000	Enhancers	Fetal Intestine Small	intestine
32	chr14:34971600-34972000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:34971600-34972000	Flanking Active TSS	A549	lung
34	chr14:34971600-34972200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:34971600-34972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:34971600-34972200	Enhancers	Fetal Muscle Leg	muscle
37	chr14:34971600-34972400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:34971600-34972600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:34971800-34972000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:34971800-34972000	Enhancers	NH-A	brain
41	chr14:34971800-34972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:34971800-34972400	Weak transcription	Fetal Kidney	kidney
43	chr14:34971800-34972800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr14:34971800-34972800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:34971800-34985000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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