Variant report

Variant	rs28513414
Chromosome Location	chr9:137037831-137037832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:137035966..137038455-chr9:137256633..137259346,2	MCF-7	breast:
2	chr9:137036260..137041614-chr9:137266040..137272215,8	MCF-7	breast:
3	chr9:136999557..137002222-chr9:137037334..137040252,2	MCF-7	breast:
4	chr9:137034179..137042512-chr9:137212832..137221430,18	MCF-7	breast:
5	chr9:137035658..137041824-chr9:137247104..137250799,8	MCF-7	breast:
6	chr9:137035235..137037938-chr9:137322996..137325840,2	MCF-7	breast:
7	chr9:137036092..137037898-chr9:137320799..137322622,2	MCF-7	breast:
8	chr9:137037253..137040055-chr9:137332811..137335505,3	K562	blood:
9	chr9:137036851..137039231-chr9:137257166..137259791,2	MCF-7	breast:
10	chr9:137028423..137041755-chr9:137210581..137221866,35	MCF-7	breast:
11	chr9:137037675..137039657-chr9:137339010..137341742,2	MCF-7	breast:
12	chr9:137030110..137032230-chr9:137037095..137040393,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186350	Chromatin interaction
ENSG00000263897	Chromatin interaction
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1134852	0.96[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28379755	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs28549809	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28619507	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs28650068	0.91[ASN][1000 genomes]
rs28716857	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34640256	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
6	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137030800-137040000	Weak transcription	Small Intestine	intestine
2	chr9:137031000-137040200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:137031200-137039800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:137031200-137040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:137032600-137038200	Enhancers	Fetal Intestine Large	intestine
6	chr9:137033800-137038000	Enhancers	Liver	Liver
7	chr9:137034200-137038200	Enhancers	Fetal Intestine Small	intestine
8	chr9:137034400-137038000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:137034600-137041200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:137034800-137038400	Enhancers	Fetal Muscle Trunk	muscle
11	chr9:137034800-137039200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:137035200-137041200	Enhancers	Spleen	Spleen
13	chr9:137035400-137039800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:137035400-137041200	Enhancers	Ovary	ovary
15	chr9:137035600-137038000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:137035800-137038400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:137036000-137038200	Enhancers	NHLF	lung
18	chr9:137036000-137041000	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:137036000-137041000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:137036000-137041200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr9:137036000-137041200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:137036200-137038000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:137036200-137038000	Enhancers	Fetal Lung	lung
24	chr9:137036200-137038000	Enhancers	NHDF-Ad	bronchial
25	chr9:137036400-137038600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:137036400-137039200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:137036400-137039200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:137036400-137040000	Weak transcription	Right Atrium	heart
29	chr9:137036400-137040200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:137036400-137040200	Weak transcription	Pancreas	Pancrea
31	chr9:137036600-137038600	Weak transcription	Primary B cells from cord blood	blood
32	chr9:137036800-137038200	Enhancers	Fetal Stomach	stomach
33	chr9:137036800-137038400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:137037000-137039000	Weak transcription	Right Ventricle	heart
35	chr9:137037200-137038200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:137037200-137038200	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:137037400-137038000	Enhancers	Lung	lung
38	chr9:137037400-137038200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:137037400-137038400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:137037400-137039200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:137037600-137038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:137037600-137038000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:137037600-137038000	Enhancers	Brain Cingulate Gyrus	brain
44	chr9:137037600-137038800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:137037600-137039800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:137037600-137039800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:137037600-137040000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:137037600-137040000	Weak transcription	Esophagus	oesophagus
49	chr9:137037800-137038000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:137037800-137038000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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