Variant report

Variant	rs62576050
Chromosome Location	chr9:136391058-136391059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:136390940-136391090	HepG2	liver:	n/a	n/a
2	FOXA1	chr9:136390748-136391070	T-47D	breast:	n/a	chr9:136390896-136390908
3	CTCF	chr9:136391042-136391067	HepG2	liver:	n/a	n/a
4	CTCF	chr9:136390940-136391090	HEK293	kidney:	n/a	n/a
5	CTCF	chr9:136390960-136391110	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr9:136390955-136391160	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr9:136390892-136391268	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr9:136390968-136391157	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr9:136391027-136391109	K562	blood:	n/a	n/a
10	FOXA1	chr9:136390731-136391149	T-47D	breast:	n/a	chr9:136390896-136390908
11	MAX	chr9:136390909-136391226	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TMEM8C	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1008250	0.81[ASN][1000 genomes]
rs11534419	0.81[ASN][1000 genomes]
rs13300181	0.81[ASN][1000 genomes]
rs17150637	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073871	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28433594	0.90[ASN][1000 genomes]
rs28521969	0.92[ASN][1000 genomes]
rs3763650	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62576045	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576048	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576049	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576051	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9802272	0.89[ASN][1000 genomes]
rs9802273	0.95[ASN][1000 genomes]
rs9802318	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894059	chr9:136123840-136486929	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv894077	chr9:136166346-136515297	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv894078	chr9:136194595-136484292	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv933226	chr9:136224559-136407071	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	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
6	nsv894083	chr9:136281753-136452144	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv894084	chr9:136281753-136458311	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv894085	chr9:136281753-136478442	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv894092	chr9:136311679-136452144	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894093	chr9:136311679-136458311	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv894097	chr9:136333356-136407208	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv894098	chr9:136335824-136452144	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv894099	chr9:136337168-136459543	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
17	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv894101	chr9:136378650-136458311	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv894102	chr9:136388223-136496708	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136377800-136391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:136382000-136391400	Weak transcription	Ovary	ovary
3	chr9:136382400-136393400	Weak transcription	Spleen	Spleen
4	chr9:136386400-136391200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:136387200-136391400	Weak transcription	Brain Anterior Caudate	brain
6	chr9:136387400-136391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:136387400-136392000	Weak transcription	Pancreas	Pancrea
8	chr9:136387600-136391200	Weak transcription	Primary T cells from cord blood	blood
9	chr9:136387600-136391200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:136387600-136391200	Weak transcription	Fetal Brain Male	brain
11	chr9:136387800-136391800	Weak transcription	Thymus	Thymus
12	chr9:136388400-136391400	Weak transcription	Fetal Brain Female	brain
13	chr9:136388600-136391200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:136388600-136391200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:136389200-136391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:136389200-136391200	Weak transcription	Fetal Thymus	thymus
17	chr9:136389400-136391400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:136389600-136391200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:136390000-136391200	Weak transcription	Right Ventricle	heart
20	chr9:136390200-136392800	Enhancers	Fetal Muscle Leg	muscle
21	chr9:136390400-136391600	Weak transcription	HSMM	muscle
22	chr9:136390400-136391800	Enhancers	Fetal Stomach	stomach
23	chr9:136390600-136392000	Enhancers	Fetal Kidney	kidney
24	chr9:136390600-136394200	Enhancers	Liver	Liver
25	chr9:136390600-136394600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:136390600-136395000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:136390600-136395200	Enhancers	Fetal Lung	lung
28	chr9:136390800-136391600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:136390800-136391600	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:136390800-136391600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr9:136390800-136391800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:136390800-136392000	Enhancers	Brain Hippocampus Middle	brain
33	chr9:136390800-136392400	Enhancers	Brain Substantia Nigra	brain
34	chr9:136390800-136392800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:136390800-136392800	Bivalent Enhancer	HepG2	liver
36	chr9:136390800-136393800	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr9:136390800-136394400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:136390800-136394400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr9:136391000-136391200	Enhancers	Right Atrium	heart
40	chr9:136391000-136391400	Enhancers	HSMMtube	muscle
41	chr9:136391000-136392600	Enhancers	Colon Smooth Muscle	Colon
42	chr9:136391000-136392800	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr9:136391000-136393000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:136391000-136393200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:136391000-136393200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:136391000-136393600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:136391000-136394200	Enhancers	Left Ventricle	heart
48	chr9:136391000-136394400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:136391000-136394400	Enhancers	Brain Cingulate Gyrus	brain

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