Variant report

Variant	rs73651574
Chromosome Location	chr9:94605641-94605642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
2	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:
3	chr9:94603914..94606181-chr9:94621038..94623335,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10512218	0.97[ASN][1000 genomes]
rs11999739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12002460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12003585	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16907830	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16907873	0.88[AFR][1000 genomes]
rs16907877	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907940	0.97[ASN][1000 genomes]
rs1881386	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28802998	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225147	0.97[ASN][1000 genomes]
rs59004196	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61160043	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7031514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519115	1.00[ASN][1000 genomes]
rs73519130	0.97[ASN][1000 genomes]
rs73519140	0.97[ASN][1000 genomes]
rs73651562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73651566	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73651579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651584	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651595	0.97[ASN][1000 genomes]
rs73651596	0.97[ASN][1000 genomes]
rs7866996	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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 miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94597000-94605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:94601000-94606000	Weak transcription	Stomach Mucosa	stomach
4	chr9:94601400-94605800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:94601400-94605800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:94601400-94605800	Weak transcription	Fetal Brain Female	brain
7	chr9:94601600-94605800	Enhancers	Rectal Smooth Muscle	rectum
8	chr9:94601800-94607400	Weak transcription	Gastric	stomach
9	chr9:94601800-94618400	Weak transcription	K562	blood
10	chr9:94602800-94611200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:94602800-94611600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:94603800-94607800	Enhancers	Ovary	ovary
13	chr9:94604000-94605800	Enhancers	Fetal Heart	heart
14	chr9:94604000-94606200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:94604400-94606800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:94604600-94606000	Enhancers	Primary B cells from peripheral blood	blood
17	chr9:94604800-94606800	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:94604800-94607000	Enhancers	Thymus	Thymus
19	chr9:94604800-94607600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:94604800-94607800	Enhancers	Fetal Lung	lung
21	chr9:94604800-94610200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94605000-94605800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:94605000-94606200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94605000-94606800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:94605000-94607000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:94605000-94607000	Enhancers	Brain Germinal Matrix	brain
27	chr9:94605000-94608400	Enhancers	Fetal Stomach	stomach
28	chr9:94605200-94605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:94605200-94605800	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:94605200-94606600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:94605200-94606800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:94605200-94607600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:94605200-94607600	Enhancers	Fetal Muscle Leg	muscle
34	chr9:94605400-94605800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:94605400-94605800	Enhancers	Liver	Liver
36	chr9:94605400-94606000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr9:94605400-94606000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr9:94605400-94606200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:94605400-94606600	Enhancers	Primary B cells from cord blood	blood
40	chr9:94605400-94606800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:94605400-94606800	Enhancers	Fetal Kidney	kidney
42	chr9:94605400-94607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr9:94605400-94607400	Enhancers	NHLF	lung
44	chr9:94605400-94607600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:94605600-94605800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:94605600-94606000	Enhancers	Brain Hippocampus Middle	brain
47	chr9:94605600-94606000	Weak transcription	Pancreas	Pancrea
48	chr9:94605600-94606000	Weak transcription	Right Atrium	heart
49	chr9:94605600-94606200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:94605600-94606200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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