Variant report

Variant	rs7141132
Chromosome Location	chr14:45721039-45721040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
2	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
3	chr14:45603451..45606015-chr14:45719614..45721854,2	K562	blood:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17115914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565418	1.00[EUR][1000 genomes]
rs2899962	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34097926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34402741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45607635	1.00[EUR][1000 genomes]
rs59375426	1.00[EUR][1000 genomes]
rs61746895	0.92[EUR][1000 genomes]
rs7143436	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145397	1.00[EUR][1000 genomes]
rs7149582	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];1.00[EUR][1000 genomes]
rs73350258	1.00[EUR][1000 genomes]
rs8008760	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8018014	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[EUR][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	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
4	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv901845	chr14:45619217-45772910	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1045297	chr14:45631260-45755992	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
9	nsv901846	chr14:45702358-45783546	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv564726	chr14:45702358-45911581	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2758357	chr14:45706082-45982410	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	esv2759987	chr14:45706082-45982410	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
2	chr14:45682000-45721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:45695000-45721600	Weak transcription	Pancreas	Pancrea
4	chr14:45702400-45721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:45704600-45721200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:45704800-45721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:45705400-45721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:45709200-45721600	Weak transcription	Left Ventricle	heart
9	chr14:45716600-45722000	Weak transcription	Stomach Mucosa	stomach
10	chr14:45717600-45721200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:45718000-45721400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:45718400-45721200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:45718600-45721200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr14:45718800-45722800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr14:45718800-45723400	Active TSS	Rectal Smooth Muscle	rectum
16	chr14:45718800-45723800	Active TSS	GM12878-XiMat	blood
17	chr14:45719000-45721200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:45719000-45721600	Weak transcription	Lung	lung
19	chr14:45719200-45721600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:45719600-45721200	Weak transcription	HSMMtube	muscle
21	chr14:45719600-45721600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:45719800-45721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:45719800-45721200	Weak transcription	Ovary	ovary
24	chr14:45719800-45723200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:45720000-45721200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:45720000-45721800	Weak transcription	Small Intestine	intestine
27	chr14:45720000-45722800	Active TSS	Duodenum Mucosa	Duodenum
28	chr14:45720000-45723000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:45720200-45721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:45720200-45721200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:45720200-45721200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:45720200-45721200	Weak transcription	Gastric	stomach
33	chr14:45720200-45721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:45720200-45721600	Weak transcription	Esophagus	oesophagus
35	chr14:45720400-45721200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:45720400-45721200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:45720400-45721200	Flanking Active TSS	A549	lung
38	chr14:45720400-45721200	Flanking Active TSS	HUVEC	blood vessel
39	chr14:45720400-45721600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr14:45720400-45722000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr14:45720400-45722200	Active TSS	Right Atrium	heart
42	chr14:45720400-45722400	Active TSS	K562	blood
43	chr14:45720400-45722600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:45720400-45722800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:45720400-45722800	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr14:45720400-45722800	Active TSS	Fetal Thymus	thymus
47	chr14:45720400-45723200	Active TSS	Thymus	Thymus
48	chr14:45720400-45723400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:45720400-45723400	Active TSS	HMEC	breast
50	chr14:45720400-45723400	Active TSS	NHLF	lung

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