Variant report

Variant	rs73397376
Chromosome Location	chr9:5930892-5930893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:5924252..5926200-chr9:5929178..5931447,2	MCF-7	breast:
2	chr9:5913974..5916739-chr9:5930124..5932087,2	K562	blood:
3	chr9:5930058..5932668-chr9:5946497..5948957,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10116214	1.00[EUR][1000 genomes]
rs10125832	1.00[EUR][1000 genomes]
rs10975350	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975367	0.92[ASN][1000 genomes]
rs10975372	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975377	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	1.00[ASN][1000 genomes]
rs12337300	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337445	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337790	1.00[EUR][1000 genomes]
rs12339713	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339886	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339889	1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340531	1.00[EUR][1000 genomes]
rs12341021	1.00[EUR][1000 genomes]
rs12342166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343325	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345849	1.00[EUR][1000 genomes]
rs12351533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411949	1.00[EUR][1000 genomes]
rs28431078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs57154492	1.00[EUR][1000 genomes]
rs58291302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60037728	1.00[EUR][1000 genomes]
rs7022080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029847	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383109	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383113	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383114	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383144	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73385128	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73389036	1.00[EUR][1000 genomes]
rs73389044	1.00[EUR][1000 genomes]
rs73397307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73639554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73639568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7854980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858084	1.00[EUR][1000 genomes]
rs7858846	1.00[EUR][1000 genomes]
rs7874032	1.00[ASN][1000 genomes]
rs7875607	1.00[EUR][1000 genomes]
rs9299025	1.00[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	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' 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	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5898400-5947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:5919000-5939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:5919800-5935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:5920800-5931200	Weak transcription	A549	lung
5	chr9:5920800-5938800	Weak transcription	Small Intestine	intestine
6	chr9:5921200-5939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:5921200-5950400	Weak transcription	Psoas Muscle	Psoas
8	chr9:5922000-5941600	Weak transcription	HSMMtube	muscle
9	chr9:5922200-5935800	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:5922400-5933400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:5922400-5935000	Weak transcription	Pancreas	Pancrea
12	chr9:5922400-5935200	Weak transcription	HMEC	breast
13	chr9:5922400-5939800	Weak transcription	Gastric	stomach
14	chr9:5922600-5947000	Weak transcription	Fetal Heart	heart
15	chr9:5923000-5936200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:5923000-5945200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:5923000-5969000	Weak transcription	Fetal Stomach	stomach
18	chr9:5923200-5933400	Weak transcription	Left Ventricle	heart
19	chr9:5923200-5933600	Weak transcription	Fetal Lung	lung
20	chr9:5923200-5934000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:5923200-5934200	Weak transcription	Colonic Mucosa	Colon
22	chr9:5923200-5934800	Weak transcription	Dnd41	blood
23	chr9:5923200-5935000	Weak transcription	Spleen	Spleen
24	chr9:5923200-5935000	Weak transcription	HepG2	liver
25	chr9:5923200-5935200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:5923200-5935800	Weak transcription	HUVEC	blood vessel
27	chr9:5923200-5938800	Weak transcription	Right Ventricle	heart
28	chr9:5923200-5939000	Weak transcription	Lung	lung
29	chr9:5923200-5939600	Weak transcription	Brain Angular Gyrus	brain
30	chr9:5923200-5943000	Weak transcription	Esophagus	oesophagus
31	chr9:5923200-5947600	Weak transcription	Fetal Kidney	kidney
32	chr9:5923200-5949200	Weak transcription	NHLF	lung
33	chr9:5923200-5968200	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:5923200-5971800	Weak transcription	NHEK	skin
35	chr9:5923200-5972400	Weak transcription	Aorta	Aorta
36	chr9:5923400-5931600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:5923400-5933400	Weak transcription	Thymus	Thymus
38	chr9:5923400-5935800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr9:5923400-5939400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:5923400-5939600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:5924400-5935200	Weak transcription	Fetal Thymus	thymus
42	chr9:5924400-5935600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr9:5924600-5931800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:5924600-5935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:5924600-5939600	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:5924600-5942600	Weak transcription	Brain Germinal Matrix	brain
47	chr9:5924600-5945200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:5924600-5946800	Weak transcription	Brain Substantia Nigra	brain
49	chr9:5924600-5949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:5924600-5967400	Weak transcription	Brain Anterior Caudate	brain

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