Variant report

Variant	rs73471357
Chromosome Location	chr9:86581446-86581447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86579856..86582669-chr9:86606095..86609007,3	K562	blood:

Variant related genes	Relation type
ENSG00000202523	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10868067	0.93[EUR][1000 genomes]
rs11140269	0.85[EUR][1000 genomes]
rs11140270	0.85[EUR][1000 genomes]
rs11140271	1.00[EUR][1000 genomes]
rs11140274	0.92[EUR][1000 genomes]
rs11140275	0.92[EUR][1000 genomes]
rs11140280	1.00[EUR][1000 genomes]
rs11140288	1.00[EUR][1000 genomes]
rs11140290	0.86[EUR][1000 genomes]
rs11140292	1.00[EUR][1000 genomes]
rs11140294	1.00[EUR][1000 genomes]
rs11140296	1.00[EUR][1000 genomes]
rs11140308	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11140309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140316	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140337	1.00[EUR][1000 genomes]
rs11140338	1.00[EUR][1000 genomes]
rs11531847	1.00[EUR][1000 genomes]
rs11533022	1.00[EUR][1000 genomes]
rs11533047	0.93[EUR][1000 genomes]
rs11535577	1.00[EUR][1000 genomes]
rs11559387	0.85[EUR][1000 genomes]
rs12056961	1.00[EUR][1000 genomes]
rs12235653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237056	1.00[EUR][1000 genomes]
rs12237297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59409125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60989495	0.86[EUR][1000 genomes]
rs73469392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs969148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9776332	0.93[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	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86571800-86584600	Weak transcription	Spleen	Spleen
2	chr9:86572000-86586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:86572200-86581600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:86572200-86581800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:86572200-86581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:86572200-86581800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:86572200-86582000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr9:86572200-86582000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:86572200-86584600	Weak transcription	Ovary	ovary
10	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
11	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:86572400-86581600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:86572400-86581600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:86572400-86581800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:86572400-86581800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr9:86572400-86581800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr9:86572400-86582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:86572400-86582200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:86572400-86582200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:86572400-86582600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:86572400-86582600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr9:86572400-86584000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:86572400-86584400	Weak transcription	Fetal Heart	heart
24	chr9:86572400-86584600	Weak transcription	Thymus	Thymus
25	chr9:86572400-86585800	Weak transcription	Pancreas	Pancrea
26	chr9:86572400-86586000	Weak transcription	Gastric	stomach
27	chr9:86572400-86586000	Weak transcription	Psoas Muscle	Psoas
28	chr9:86572400-86586000	Weak transcription	Right Ventricle	heart
29	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
30	chr9:86572600-86581800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:86572600-86582200	Weak transcription	Fetal Lung	lung
32	chr9:86572600-86582400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr9:86572600-86583400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:86572600-86583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:86572600-86584200	Weak transcription	Fetal Brain Male	brain
36	chr9:86572600-86584200	Weak transcription	Fetal Brain Female	brain
37	chr9:86572600-86584400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:86572600-86584600	Weak transcription	Small Intestine	intestine
39	chr9:86572600-86585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:86572800-86582200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:86573200-86585800	Weak transcription	Lung	lung
42	chr9:86574800-86581800	Weak transcription	Fetal Kidney	kidney
43	chr9:86577200-86581800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:86577400-86582600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:86577400-86583600	Weak transcription	HepG2	liver
46	chr9:86577600-86581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:86577600-86582000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:86577600-86584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:86577600-86584600	Weak transcription	Colonic Mucosa	Colon
50	chr9:86577600-86586400	Weak transcription	Esophagus	oesophagus

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