Variant report

Variant	rs34607253
Chromosome Location	chr9:137036718-137036719
allele	A/G
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	chr9:137035554..137037062-chr9:137334657..137335785,9	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	chr9:137036050..137037588-chr9:137038508..137040395,2	MCF-7	breast:
9	chr9:137028423..137041755-chr9:137210581..137221866,35	MCF-7	breast:
10	chr9:137034875..137036888-chr9:137245950..137248202,2	MCF-7	breast:
11	chr9:137035498..137037390-chr9:137259716..137261903,2	MCF-7	breast:
12	chr9:137028870..137031665-chr9:137035798..137037644,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186350	Chromatin interaction
ENSG00000221676	Chromatin interaction
ENSG00000263897	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs28360858	0.92[EUR][1000 genomes]
rs28399690	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28401385	0.92[EUR][1000 genomes]
rs28412245	0.92[EUR][1000 genomes]
rs28440102	0.92[EUR][1000 genomes]
rs28452481	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28473171	0.92[EUR][1000 genomes]
rs28479377	0.92[EUR][1000 genomes]
rs28491791	0.92[EUR][1000 genomes]
rs28507057	0.92[EUR][1000 genomes]
rs28562957	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28579703	0.92[EUR][1000 genomes]
rs28620240	0.92[EUR][1000 genomes]
rs28705689	0.92[EUR][1000 genomes]
rs28708401	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28710163	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28712382	0.92[EUR][1000 genomes]
rs28714237	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28740804	0.92[EUR][1000 genomes]
rs28758854	0.92[EUR][1000 genomes]
rs28759311	0.92[EUR][1000 genomes]
rs34079254	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34194763	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34473303	0.92[EUR][1000 genomes]
rs34546899	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34646496	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34861636	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34929179	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35209649	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35322411	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35387289	0.92[EUR][1000 genomes]
rs35419030	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35448798	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35489314	0.92[EUR][1000 genomes]
rs35504753	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35511305	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35709000	0.92[EUR][1000 genomes]
rs35726748	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35924689	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71483222	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71505283	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71505284	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555051	0.86[AFR][1000 genomes]
rs73555054	0.86[AFR][1000 genomes]
rs73555061	0.91[AFR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137030800-137040000	Weak transcription	Small Intestine	intestine
2	chr9:137031000-137037400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:137031000-137040200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:137031200-137039800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:137031200-137040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:137031400-137037000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:137031400-137037400	Weak transcription	Lung	lung
8	chr9:137031800-137037000	Weak transcription	Esophagus	oesophagus
9	chr9:137032600-137038200	Enhancers	Fetal Intestine Large	intestine
10	chr9:137032800-137036800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:137033200-137036800	Weak transcription	HSMMtube	muscle
12	chr9:137033800-137038000	Enhancers	Liver	Liver
13	chr9:137034200-137038200	Enhancers	Fetal Intestine Small	intestine
14	chr9:137034400-137037200	Flanking Active TSS	HepG2	liver
15	chr9:137034400-137038000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:137034600-137037600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:137034600-137041200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:137034800-137038400	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:137034800-137039200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:137035200-137041200	Enhancers	Spleen	Spleen
21	chr9:137035400-137039800	Enhancers	Fetal Muscle Leg	muscle
22	chr9:137035400-137041200	Enhancers	Ovary	ovary
23	chr9:137035600-137036800	Enhancers	Adipose Nuclei	Adipose
24	chr9:137035600-137037000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:137035600-137037600	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:137035600-137038000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:137035800-137037000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:137035800-137037800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:137035800-137037800	Enhancers	Fetal Thymus	thymus
30	chr9:137035800-137038400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:137036000-137037000	Enhancers	Right Ventricle	heart
32	chr9:137036000-137037200	Enhancers	Fetal Kidney	kidney
33	chr9:137036000-137037600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:137036000-137037600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:137036000-137037800	Enhancers	Stomach Smooth Muscle	stomach
36	chr9:137036000-137038200	Enhancers	NHLF	lung
37	chr9:137036000-137041000	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:137036000-137041000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:137036000-137041200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr9:137036000-137041200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:137036200-137036800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:137036200-137037200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:137036200-137037400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:137036200-137037800	Enhancers	Brain Anterior Caudate	brain
45	chr9:137036200-137037800	Enhancers	HMEC	breast
46	chr9:137036200-137037800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr9:137036200-137037800	Enhancers	Osteobl	bone
48	chr9:137036200-137038000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:137036200-137038000	Enhancers	Fetal Lung	lung
50	chr9:137036200-137038000	Enhancers	NHDF-Ad	bronchial

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