Variant report

Variant	rs7314233
Chromosome Location	chr12:123352358-123352359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123352169..123352839-chr12:123436532..123437356,4	MCF-7	breast:
2	chr12:123341988..123344732-chr12:123349863..123352592,2	MCF-7	breast:
3	chr12:123351930..123352762-chr12:123436973..123437518,2	MCF-7	breast:
4	chr12:123351397..123354786-chr12:123371825..123377880,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1671677	0.83[AMR][1000 genomes]
rs1671680	0.85[AMR][1000 genomes]
rs1696324	0.85[AMR][1000 genomes]
rs1798568	0.85[AMR][1000 genomes]
rs59499651	0.85[AMR][1000 genomes]
rs7138206	0.85[AMR][1000 genomes]
rs7304234	1.00[AMR][1000 genomes]
rs7312620	0.85[AMR][1000 genomes]
rs7966607	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
7	chr12:123337400-123356200	Weak transcription	Fetal Kidney	kidney
8	chr12:123338800-123354200	Strong transcription	Brain Germinal Matrix	brain
9	chr12:123339000-123353200	Weak transcription	K562	blood
10	chr12:123339200-123354200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:123339600-123354200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:123339600-123355000	Strong transcription	Fetal Brain Female	brain
13	chr12:123344400-123355000	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr12:123344600-123353000	Enhancers	Liver	Liver
15	chr12:123344800-123355200	Weak transcription	Hela-S3	cervix
16	chr12:123345000-123353600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:123345200-123352600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123345200-123354000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:123345200-123355400	Weak transcription	Fetal Brain Male	brain
20	chr12:123345400-123353800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:123345400-123354400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:123345600-123355400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:123345800-123352800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:123345800-123354000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:123346200-123352800	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:123346400-123352400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:123347200-123354800	Strong transcription	Fetal Stomach	stomach
28	chr12:123347400-123355000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:123347600-123353800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:123347600-123354200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:123347600-123355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:123347800-123355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123348200-123352400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:123348200-123352400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:123348200-123352800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:123348200-123354000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr12:123348200-123355000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:123348200-123355600	Strong transcription	NHLF	lung
39	chr12:123348400-123353000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:123348400-123354800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:123348600-123352400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:123348800-123354800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:123348800-123355400	Strong transcription	NH-A	brain
44	chr12:123348800-123355600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:123348800-123355800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:123349000-123354400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:123349000-123355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:123349000-123355200	Genic enhancers	Right Ventricle	heart
49	chr12:123349200-123354000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:123349200-123355200	Genic enhancers	Pancreas	Pancrea

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