Variant report

Variant	rs140839847
Chromosome Location	chr14:45707378-45707379
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:
2	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	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
6	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45631800-45711400	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:45633800-45721200	Weak transcription	Aorta	Aorta
3	chr14:45655600-45719200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:45662800-45711400	Weak transcription	Brain Anterior Caudate	brain
5	chr14:45669600-45712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:45670000-45711400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:45670000-45711600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:45674600-45719200	Weak transcription	Colonic Mucosa	Colon
9	chr14:45675000-45711600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:45675200-45711600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:45676200-45711600	Weak transcription	NHLF	lung
12	chr14:45678400-45711800	Strong transcription	Dnd41	blood
13	chr14:45680400-45714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:45681800-45711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:45682000-45721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:45682200-45711200	Weak transcription	Fetal Brain Female	brain
17	chr14:45682200-45714800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:45682200-45719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:45682400-45720400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:45684800-45719400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:45685200-45710000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:45686600-45719200	Weak transcription	Fetal Heart	heart
23	chr14:45687200-45719200	Weak transcription	HSMMtube	muscle
24	chr14:45690800-45709200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:45690800-45711600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:45691000-45710200	Strong transcription	Primary B cells from cord blood	blood
27	chr14:45691000-45712200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:45691600-45709600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr14:45691600-45712600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:45691600-45713800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:45691800-45711400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:45691800-45711400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:45691800-45712000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:45692200-45719000	Weak transcription	Small Intestine	intestine
35	chr14:45692200-45719800	Weak transcription	Esophagus	oesophagus
36	chr14:45692800-45718600	Weak transcription	Lung	lung
37	chr14:45693600-45719200	Weak transcription	K562	blood
38	chr14:45693600-45719200	Weak transcription	NHEK	skin
39	chr14:45695000-45721600	Weak transcription	Pancreas	Pancrea
40	chr14:45697200-45711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:45699000-45709200	Strong transcription	GM12878-XiMat	blood
42	chr14:45699400-45711400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:45699600-45712200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:45699600-45715200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:45699800-45711800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:45699800-45712200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:45699800-45715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:45700200-45708600	Weak transcription	NH-A	brain
49	chr14:45700200-45711600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:45700200-45711600	Weak transcription	Right Ventricle	heart

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