Variant report

Variant	rs62576518
Chromosome Location	chr9:136681234-136681235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136679100..136681624-chr9:136737494..136739872,2	MCF-7	breast:
2	chr9:136675876..136681317-chr9:136855092..136859862,8	MCF-7	breast:
3	chr9:136679694..136681677-chr9:136851207..136853977,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10123394	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12337328	0.91[EUR][1000 genomes]
rs12337369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337378	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338774	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342452	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342463	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12345226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345332	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552000	0.91[EUR][1000 genomes]
rs12552875	0.91[EUR][1000 genomes]
rs12552884	0.91[EUR][1000 genomes]
rs12555087	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510264	0.83[ASN][1000 genomes]
rs35033712	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45607334	0.83[ASN][1000 genomes]
rs55666584	0.85[EUR][1000 genomes]
rs57378889	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61666944	0.83[ASN][1000 genomes]
rs62576510	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576511	0.84[EUR][1000 genomes]
rs62576516	0.91[EUR][1000 genomes]
rs62576517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576519	0.91[EUR][1000 genomes]
rs62576520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026263	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033537	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7040637	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7046387	0.83[ASN][1000 genomes]
rs7047927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7048247	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7048365	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
7	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
8	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136640400-136682600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:136643200-136689800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:136650600-136688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:136651400-136686400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:136651400-136689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:136654000-136683600	Weak transcription	Small Intestine	intestine
7	chr9:136657800-136690600	Weak transcription	Fetal Kidney	kidney
8	chr9:136658600-136691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:136658800-136681800	Strong transcription	Fetal Intestine Small	intestine
10	chr9:136658800-136683600	Weak transcription	A549	lung
11	chr9:136658800-136683800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:136658800-136684800	Weak transcription	HUVEC	blood vessel
13	chr9:136658800-136705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:136659000-136683000	Strong transcription	Liver	Liver
15	chr9:136659000-136689400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:136659000-136702200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:136659800-136687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:136661400-136693800	Weak transcription	HMEC	breast
19	chr9:136666000-136686200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr9:136666600-136681400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:136666600-136686800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:136667800-136690600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:136669000-136682800	Weak transcription	HSMM	muscle
24	chr9:136669000-136691200	Weak transcription	NH-A	brain
25	chr9:136669200-136683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:136669800-136689800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr9:136670000-136692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:136673000-136686600	Weak transcription	HSMMtube	muscle
29	chr9:136673200-136705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:136673400-136681400	Enhancers	Fetal Brain Male	brain
31	chr9:136673400-136681800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:136673800-136687000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:136674200-136686200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:136674600-136699000	Weak transcription	Aorta	Aorta
35	chr9:136674800-136688200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:136675000-136688600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
38	chr9:136675400-136691600	Weak transcription	Lung	lung
39	chr9:136675400-136703200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:136675400-136709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:136675600-136681400	Enhancers	Fetal Lung	lung
42	chr9:136675600-136683600	Weak transcription	Osteobl	bone
43	chr9:136675600-136698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:136675600-136704800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:136676000-136681600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr9:136676000-136688800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:136676000-136699800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:136676200-136681400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:136677000-136705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:136677400-136682600	Weak transcription	NHEK	skin

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