Variant report

Variant	rs72696499
Chromosome Location	chr9:19104506-19104507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19102549..19104611-chr9:19380054..19382448,2	K562	blood:
2	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
3	chr9:19102845..19104876-chr9:19230126..19231853,2	MCF-7	breast:
4	chr9:19101585..19104581-chr9:19376208..19378987,2	K562	blood:
5	chr9:19062844..19065435-chr9:19102466..19104748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137154	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000147874	Chromatin interaction
ENSG00000147872	Chromatin interaction
ENSG00000251733	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11787990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11788588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11788977	0.83[AMR][1000 genomes]
rs11789469	1.00[AMR][1000 genomes]
rs11790182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11791226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11791674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11791698	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11792293	1.00[AFR][1000 genomes]
rs11793228	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11793687	1.00[AMR][1000 genomes]
rs11795205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11795374	1.00[AMR][1000 genomes]
rs2229536	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35004770	1.00[AMR][1000 genomes]
rs35568725	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41269003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41269015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41303687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41316035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56310265	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67330394	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72696445	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696446	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696447	0.83[AMR][1000 genomes]
rs72696449	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72696450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696462	0.83[AMR][1000 genomes]
rs72696463	1.00[AMR][1000 genomes]
rs72696465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696469	0.83[AMR][1000 genomes]
rs72696470	1.00[AMR][1000 genomes]
rs72696479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696491	1.00[AMR][1000 genomes]
rs72696494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72696500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698311	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698312	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72698318	1.00[AMR][1000 genomes];0.89[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	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19103000-19113800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:19103400-19104600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:19103400-19104600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:19103400-19104600	Weak transcription	Colonic Mucosa	Colon
5	chr9:19103400-19104800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:19103400-19104800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:19103400-19104800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:19103400-19104800	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:19103400-19104800	Weak transcription	Fetal Kidney	kidney
10	chr9:19103400-19105000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:19103400-19107400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:19103400-19108200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:19103400-19110000	Weak transcription	Fetal Stomach	stomach
14	chr9:19103400-19111800	Weak transcription	Left Ventricle	heart
15	chr9:19103400-19114000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:19103400-19114000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:19103400-19114000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:19103400-19114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:19103400-19114200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:19103400-19114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:19103400-19114200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:19103400-19114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:19103400-19114400	Weak transcription	Lung	lung
24	chr9:19103400-19114600	Weak transcription	NHLF	lung
25	chr9:19103400-19114800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:19103400-19114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:19103400-19114800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:19103400-19114800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:19103400-19114800	Weak transcription	Brain Substantia Nigra	brain
30	chr9:19103400-19114800	Weak transcription	HSMM	muscle
31	chr9:19103400-19114800	Weak transcription	NHDF-Ad	bronchial
32	chr9:19103400-19115000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:19103400-19115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr9:19103400-19115600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:19103400-19115600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:19103400-19115600	Weak transcription	Fetal Lung	lung
37	chr9:19103400-19115600	Weak transcription	Ovary	ovary
38	chr9:19103400-19115800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:19103400-19115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr9:19103400-19115800	Weak transcription	Gastric	stomach
41	chr9:19103400-19116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:19103400-19116000	Weak transcription	Brain Germinal Matrix	brain
43	chr9:19103400-19116000	Weak transcription	Small Intestine	intestine
44	chr9:19103400-19116200	Weak transcription	Aorta	Aorta
45	chr9:19103400-19116200	Weak transcription	Esophagus	oesophagus
46	chr9:19103400-19120200	Weak transcription	Pancreas	Pancrea
47	chr9:19103400-19126400	Weak transcription	Fetal Brain Male	brain
48	chr9:19103600-19104600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:19103600-19104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:19103600-19104600	Weak transcription	Rectal Smooth Muscle	rectum

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