Variant report

Variant	rs2428120
Chromosome Location	chr9:136710325-136710326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136706828..136709602-chr9:136710306..136713075,3	MCF-7	breast:
2	chr9:136706526..136708764-chr9:136709140..136712102,2	K562	blood:
3	chr9:136701985..136719064-chr9:136732605..136742545,35	MCF-7	breast:
4	chr9:136708649..136711470-chr9:136728033..136729956,2	MCF-7	breast:
5	chr9:136708244..136711057-chr9:136719535..136721439,2	MCF-7	breast:
6	chr9:136698344..136701067-chr9:136709180..136711930,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10114092	1.00[AMR][1000 genomes]
rs10116423	1.00[AMR][1000 genomes]
rs10117330	1.00[AMR][1000 genomes]
rs10821538	1.00[AMR][1000 genomes]
rs10993858	1.00[AMR][1000 genomes]
rs10993859	1.00[AMR][1000 genomes]
rs10993867	1.00[AMR][1000 genomes]
rs10993868	1.00[AMR][1000 genomes]
rs2428119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428121	1.00[AMR][1000 genomes]
rs2486349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486352	1.00[AMR][1000 genomes]
rs2488562	1.00[AMR][1000 genomes]
rs2502733	1.00[AMR][1000 genomes]
rs2502753	1.00[AMR][1000 genomes]
rs2502764	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993799	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3003585	1.00[AMR][1000 genomes]
rs55950463	1.00[AMR][1000 genomes]
rs55977312	1.00[AMR][1000 genomes]
rs56908632	1.00[AMR][1000 genomes]
rs59975587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73662309	1.00[AMR][1000 genomes]
rs73662310	1.00[AMR][1000 genomes]
rs73662321	1.00[AMR][1000 genomes]
rs73663862	1.00[AMR][1000 genomes]
rs9409867	0.82[AFR][1000 genomes];1.00[AMR][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	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
2	chr9:136698400-136718000	Weak transcription	Hela-S3	cervix
3	chr9:136705200-136710800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:136705200-136710800	Weak transcription	A549	lung
5	chr9:136705200-136711200	Genic enhancers	Fetal Intestine Small	intestine
6	chr9:136705400-136726800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:136705600-136711000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:136705600-136719200	Weak transcription	Fetal Kidney	kidney
9	chr9:136705800-136721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:136705800-136724400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:136705800-136726000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:136705800-136729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:136706000-136710800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:136706000-136726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:136706200-136712000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:136706400-136712400	Weak transcription	HepG2	liver
17	chr9:136706600-136710400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:136706600-136710600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:136706600-136714000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:136706800-136710400	Bivalent Enhancer	Placenta	Placenta
21	chr9:136707000-136710600	Enhancers	Fetal Thymus	thymus
22	chr9:136707200-136726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:136707600-136710800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:136707600-136711800	Enhancers	Lung	lung
25	chr9:136707800-136710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:136708000-136713000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:136708000-136716800	Weak transcription	Stomach Mucosa	stomach
28	chr9:136708000-136719600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:136708000-136721000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:136708200-136713600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:136708200-136719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:136708400-136710400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr9:136708400-136713800	Weak transcription	Fetal Brain Male	brain
34	chr9:136708600-136713600	Weak transcription	Fetal Brain Female	brain
35	chr9:136708600-136713800	Weak transcription	NHEK	skin
36	chr9:136708800-136710800	Enhancers	Ovary	ovary
37	chr9:136708800-136711400	Enhancers	Liver	Liver
38	chr9:136708800-136711400	Enhancers	Fetal Lung	lung
39	chr9:136709000-136710400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr9:136709000-136711000	Enhancers	Fetal Heart	heart
41	chr9:136709000-136711200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:136709000-136712000	Enhancers	Fetal Muscle Trunk	muscle
43	chr9:136709000-136715000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:136709000-136728600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:136709200-136711200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:136709200-136711200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr9:136709200-136714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:136709400-136710800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:136709400-136711000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr9:136709400-136711000	Enhancers	Left Ventricle	heart

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