Variant report

Variant	rs12003273
Chromosome Location	chr9:94601233-94601234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
2	chr9:94596693..94598646-chr9:94599586..94601943,2	K562	blood:
3	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
4	chr9:94600991..94603811-chr9:94624286..94626763,2	K562	blood:
5	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:
6	chr9:94597146..94598805-chr9:94600443..94602240,2	K562	blood:
7	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10118409	1.00[CEU][hapmap]
rs10121694	1.00[CEU][hapmap]
rs10122415	1.00[CEU][hapmap]
rs10512218	0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11999739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12002460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12002884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12003585	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16907830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16907873	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs16907877	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16907893	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16907940	0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1881386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1919104	1.00[CEU][hapmap]
rs28802998	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56225147	0.84[ASN][1000 genomes]
rs59004196	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61160043	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7022887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7031514	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7033888	1.00[CEU][hapmap]
rs7041908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7045602	1.00[CEU][hapmap]
rs7045708	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73519115	0.86[ASN][1000 genomes]
rs73519130	0.84[ASN][1000 genomes]
rs73519140	0.84[ASN][1000 genomes]
rs73651562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73651565	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73651566	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73651574	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73651595	0.84[ASN][1000 genomes]
rs73651596	0.84[ASN][1000 genomes]
rs7847748	0.83[YRI][hapmap]
rs7848959	1.00[CEU][hapmap]
rs7866996	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7874163	0.83[YRI][hapmap]
rs9969713	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][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	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
9	esv3436815	chr9:94599631-94603929	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94596400-94605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:94597000-94605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:94597600-94601600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:94597800-94602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:94598000-94604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:94598200-94605600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:94599200-94601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94599200-94604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:94599200-94604600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:94599400-94602000	Weak transcription	GM12878-XiMat	blood
12	chr9:94599800-94601800	Enhancers	K562	blood
13	chr9:94600000-94602800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:94600000-94605600	Weak transcription	Colonic Mucosa	Colon
15	chr9:94600200-94601400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:94600200-94601600	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr9:94600200-94601600	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr9:94600400-94601600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:94600400-94601600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr9:94600400-94602800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr9:94600600-94601400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:94600600-94601600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:94600600-94601800	Weak transcription	Fetal Kidney	kidney
24	chr9:94600600-94602000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:94600600-94602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:94600800-94601400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:94600800-94601400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
28	chr9:94600800-94602200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr9:94601000-94601400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:94601000-94601400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:94601000-94601400	Active TSS	NHLF	lung
32	chr9:94601000-94601600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:94601000-94601600	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:94601000-94601600	Weak transcription	Gastric	stomach
35	chr9:94601000-94601600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr9:94601000-94601800	Enhancers	Hela-S3	cervix
37	chr9:94601000-94602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:94601000-94603800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr9:94601000-94604600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:94601000-94605000	Weak transcription	Spleen	Spleen
41	chr9:94601000-94605600	Weak transcription	Fetal Intestine Large	intestine
42	chr9:94601000-94605600	Weak transcription	Lung	lung
43	chr9:94601000-94606000	Weak transcription	Stomach Mucosa	stomach
44	chr9:94601200-94601400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:94601200-94601400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:94601200-94601400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr9:94601200-94601400	Enhancers	Fetal Brain Male	brain
48	chr9:94601200-94601400	Enhancers	Fetal Brain Female	brain
49	chr9:94601200-94601400	Flanking Active TSS	Fetal Lung	lung
50	chr9:94601200-94601600	Enhancers	Ovary	ovary

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