Variant report

Variant	rs72698310
Chromosome Location	chr9:19114230-19114231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19111300..19113114-chr9:19113556..19115992,2	K562	blood:
2	chr9:19112623..19114448-chr9:19372527..19374995,2	MCF-7	breast:
3	chr9:19100757..19103077-chr9:19112817..19114511,2	MCF-7	breast:

Extended variants
information (count: 66 )
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];0.95[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];0.98[EUR][1000 genomes]
rs35004770	1.00[AMR][1000 genomes]
rs35568725	1.00[AMR][1000 genomes];0.95[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];0.93[EUR][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];1.00[EUR][1000 genomes]
rs67330394	1.00[AMR][1000 genomes];0.98[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]
rs72696499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72696500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72696501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72696502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72698312	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72698318	1.00[AMR][1000 genomes];0.95[EUR][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	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
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19103400-19114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:19103400-19114400	Weak transcription	Lung	lung
3	chr9:19103400-19114600	Weak transcription	NHLF	lung
4	chr9:19103400-19114800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:19103400-19114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:19103400-19114800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:19103400-19114800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:19103400-19114800	Weak transcription	Brain Substantia Nigra	brain
9	chr9:19103400-19114800	Weak transcription	HSMM	muscle
10	chr9:19103400-19114800	Weak transcription	NHDF-Ad	bronchial
11	chr9:19103400-19115000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:19103400-19115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:19103400-19115600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:19103400-19115600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:19103400-19115600	Weak transcription	Fetal Lung	lung
16	chr9:19103400-19115600	Weak transcription	Ovary	ovary
17	chr9:19103400-19115800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:19103400-19115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:19103400-19115800	Weak transcription	Gastric	stomach
20	chr9:19103400-19116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:19103400-19116000	Weak transcription	Brain Germinal Matrix	brain
22	chr9:19103400-19116000	Weak transcription	Small Intestine	intestine
23	chr9:19103400-19116200	Weak transcription	Aorta	Aorta
24	chr9:19103400-19116200	Weak transcription	Esophagus	oesophagus
25	chr9:19103400-19120200	Weak transcription	Pancreas	Pancrea
26	chr9:19103400-19126400	Weak transcription	Fetal Brain Male	brain
27	chr9:19103600-19114400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:19103600-19114400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:19103600-19114400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:19103600-19114400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:19103600-19114400	Weak transcription	Liver	Liver
32	chr9:19103600-19114400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:19103600-19114600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:19103600-19114600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:19103600-19114600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:19103600-19114600	Weak transcription	Spleen	Spleen
37	chr9:19103600-19114800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:19103600-19114800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:19103600-19114800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:19103600-19114800	Weak transcription	Fetal Thymus	thymus
41	chr9:19103600-19115000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:19103600-19115000	Weak transcription	Dnd41	blood
43	chr9:19103600-19115400	Weak transcription	Fetal Brain Female	brain
44	chr9:19103600-19115600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:19103600-19115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:19103600-19115600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:19103600-19115800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:19103600-19115800	Weak transcription	Psoas Muscle	Psoas
49	chr9:19103600-19115800	Weak transcription	NHEK	skin
50	chr9:19103600-19116000	Weak transcription	Brain Hippocampus Middle	brain

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