Variant report

Variant	rs1955716
Chromosome Location	chr14:39899449-39899450
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	chr14:39649512..39652193-chr14:39897469..39900946,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10047876	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10130181	0.85[CHB][hapmap]
rs10133746	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10136490	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10140997	0.85[CHB][hapmap]
rs10142029	0.85[CHB][hapmap]
rs10146106	0.85[CHB][hapmap]
rs10146622	0.85[CHB][hapmap]
rs10220689	0.85[CHB][hapmap]
rs12433987	0.85[CHB][hapmap]
rs12437261	0.85[CHB][hapmap]
rs12883658	0.80[AMR][1000 genomes]
rs12886099	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17109168	0.85[CHB][hapmap]
rs1998885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899887	0.85[CHB][hapmap]
rs4902458	0.85[CHB][hapmap]
rs4902559	0.85[CHB][hapmap]
rs7151017	1.00[ASW][hapmap]
rs7156962	0.85[CHB][hapmap]
rs7158282	0.85[CHB][hapmap]
rs8006076	0.85[CHB][hapmap]
rs8011412	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322999	0.85[CHB][hapmap]
rs9805937	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr14:39886600-39900000	Weak transcription	Esophagus	oesophagus
2	chr14:39886600-39900000	Weak transcription	Pancreas	Pancrea
3	chr14:39886800-39899600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:39896000-39899800	Weak transcription	HSMM	muscle
5	chr14:39896000-39900000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:39896000-39900200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:39896400-39899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:39896400-39899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:39896400-39899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:39896400-39899600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:39896400-39899800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:39896400-39900000	Weak transcription	A549	lung
13	chr14:39897200-39900000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:39897400-39900000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:39897600-39899600	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:39897600-39899800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:39897600-39900000	Weak transcription	Lung	lung
18	chr14:39897800-39903000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr14:39898000-39899600	Enhancers	Fetal Stomach	stomach
20	chr14:39898000-39899800	Enhancers	Liver	Liver
21	chr14:39898000-39900400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:39898200-39899800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:39898200-39900000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:39898200-39900600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:39898400-39899600	Enhancers	NHEK	skin
26	chr14:39898400-39899800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:39898400-39900400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr14:39898400-39900600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr14:39898600-39899600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:39898600-39900200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:39898600-39900800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr14:39898800-39899600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:39898800-39899600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:39898800-39899600	Enhancers	NH-A	brain
35	chr14:39898800-39899600	Flanking Active TSS	NHDF-Ad	bronchial
36	chr14:39898800-39899600	Enhancers	Osteobl	bone
37	chr14:39898800-39899800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:39898800-39899800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr14:39898800-39899800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr14:39898800-39899800	Enhancers	HSMMtube	muscle
41	chr14:39898800-39900000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:39898800-39900000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:39898800-39900000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr14:39898800-39900000	Enhancers	Gastric	stomach
45	chr14:39898800-39900000	Flanking Active TSS	HepG2	liver
46	chr14:39898800-39900200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39898800-39900200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr14:39898800-39900200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:39898800-39900200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr14:39898800-39900200	Enhancers	Placenta Amnion	Placenta Amnion

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