Variant report

Variant	rs12342989
Chromosome Location	chr9:136726546-136726547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136725437..136727832-chr9:136728228..136730381,2	K562	blood:
2	chr9:136724408..136730266-chr9:136853620..136859994,16	MCF-7	breast:
3	chr9:136723768..136727391-chr9:136738428..136742111,4	MCF-7	breast:
4	chr9:136700961..136707109-chr9:136726164..136730903,8	MCF-7	breast:
5	chr9:136726221..136733157-chr9:136853321..136860155,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10114727	1.00[EUR][1000 genomes]
rs10217159	1.00[EUR][1000 genomes]
rs11998957	1.00[EUR][1000 genomes]
rs12339322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12353234	1.00[EUR][1000 genomes]
rs2428122	1.00[EUR][1000 genomes]
rs7048686	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550009	1.00[EUR][1000 genomes]
rs73553983	1.00[EUR][1000 genomes]
rs73555907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
2	chr9:136705400-136726800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:136705800-136729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:136707200-136726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:136709000-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:136710000-136727400	Weak transcription	Brain Substantia Nigra	brain
7	chr9:136710600-136727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:136710800-136728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:136711400-136737800	Weak transcription	NH-A	brain
10	chr9:136711600-136727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:136714600-136729400	Weak transcription	NHEK	skin
12	chr9:136717200-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:136718400-136727400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:136719400-136728200	Weak transcription	NHDF-Ad	bronchial
15	chr9:136719600-136727400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:136719600-136727800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:136720600-136727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:136721200-136727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:136721200-136727600	Weak transcription	Right Ventricle	heart
20	chr9:136721200-136728000	Weak transcription	Right Atrium	heart
21	chr9:136721200-136728600	Weak transcription	HSMMtube	muscle
22	chr9:136721200-136729800	Weak transcription	A549	lung
23	chr9:136721400-136727600	Weak transcription	Left Ventricle	heart
24	chr9:136721400-136728400	Weak transcription	Fetal Lung	lung
25	chr9:136721400-136738600	Weak transcription	HUVEC	blood vessel
26	chr9:136721600-136726600	Weak transcription	Adipose Nuclei	Adipose
27	chr9:136721600-136727200	Weak transcription	Colonic Mucosa	Colon
28	chr9:136721600-136728400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:136721800-136727800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:136722000-136727600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:136722000-136728400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:136722000-136728800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:136722200-136727400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:136722400-136727000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:136722400-136727400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:136722400-136728000	Strong transcription	Fetal Intestine Small	intestine
37	chr9:136722400-136728200	Strong transcription	Fetal Stomach	stomach
38	chr9:136722800-136727000	Strong transcription	Fetal Intestine Large	intestine
39	chr9:136723000-136727400	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:136723200-136726600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:136723400-136727800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:136723400-136727800	Strong transcription	HepG2	liver
43	chr9:136723800-136726600	Strong transcription	Pancreas	Pancrea
44	chr9:136723800-136727800	Strong transcription	NHLF	lung
45	chr9:136723800-136730000	Weak transcription	Hela-S3	cervix
46	chr9:136724000-136726800	Strong transcription	Fetal Muscle Leg	muscle
47	chr9:136724000-136727000	Weak transcription	Placenta	Placenta
48	chr9:136724400-136726800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:136724600-136729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:136725400-136726800	Strong transcription	Primary B cells from cord blood	blood

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