Variant report

Variant	rs2428100
Chromosome Location	chr9:136664011-136664012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136657878..136659693-chr9:136663887..136665937,2	MCF-7	breast:
2	chr9:136657969..136659784-chr9:136660747..136664280,4	MCF-7	breast:
3	chr9:136661629..136666977-chr9:136855877..136859612,6	MCF-7	breast:
4	chr9:136645262..136664386-chr9:136851810..136861142,57	MCF-7	breast:
5	chr9:136656812..136664739-chr9:136743672..136748217,7	MCF-7	breast:
6	chr9:136662777..136665043-chr9:136746286..136748398,2	MCF-7	breast:
7	chr9:136663610..136666159-chr9:136666260..136668389,2	K562	blood:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005876	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2428088	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2428089	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2428091	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2428099	0.88[AFR][1000 genomes]
rs2486330	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2488552	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510246	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv894118	chr9:136624542-136678954	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv894121	chr9:136629399-136692787	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136640000-136679400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:136640400-136682600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:136640800-136667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:136643200-136689800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:136643800-136672600	Weak transcription	Aorta	Aorta
6	chr9:136645000-136664200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:136650000-136679400	Weak transcription	Right Atrium	heart
8	chr9:136650600-136688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:136651400-136668200	Weak transcription	NH-A	brain
10	chr9:136651400-136686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:136651400-136689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:136654000-136668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:136654000-136671000	Weak transcription	Esophagus	oesophagus
14	chr9:136654000-136683600	Weak transcription	Small Intestine	intestine
15	chr9:136655200-136665400	Strong transcription	NHEK	skin
16	chr9:136655200-136669600	Weak transcription	Right Ventricle	heart
17	chr9:136656600-136671400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:136657000-136672400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:136657200-136672600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:136657600-136668600	Weak transcription	NHDF-Ad	bronchial
21	chr9:136657600-136672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:136657800-136671800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:136657800-136690600	Weak transcription	Fetal Kidney	kidney
24	chr9:136658600-136669800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:136658600-136670400	Weak transcription	Brain Substantia Nigra	brain
26	chr9:136658600-136680800	Strong transcription	Fetal Intestine Large	intestine
27	chr9:136658600-136691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:136658800-136664600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:136658800-136668200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:136658800-136668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:136658800-136668200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:136658800-136668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:136658800-136671800	Weak transcription	Colonic Mucosa	Colon
34	chr9:136658800-136672000	Weak transcription	Ovary	ovary
35	chr9:136658800-136673800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:136658800-136676000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:136658800-136676200	Weak transcription	Stomach Mucosa	stomach
38	chr9:136658800-136676800	Strong transcription	Fetal Stomach	stomach
39	chr9:136658800-136679400	Weak transcription	Colon Smooth Muscle	Colon
40	chr9:136658800-136680000	Weak transcription	Brain Anterior Caudate	brain
41	chr9:136658800-136681800	Strong transcription	Fetal Intestine Small	intestine
42	chr9:136658800-136683600	Weak transcription	A549	lung
43	chr9:136658800-136683800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:136658800-136684800	Weak transcription	HUVEC	blood vessel
45	chr9:136658800-136705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr9:136659000-136665400	Strong transcription	Pancreas	Pancrea
47	chr9:136659000-136666800	Weak transcription	Adipose Nuclei	Adipose
48	chr9:136659000-136667600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:136659000-136668800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:136659000-136670000	Weak transcription	Brain Cingulate Gyrus	brain

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