Variant report

Variant	rs11999739
Chromosome Location	chr9:94599193-94599194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94597584..94599500-chr9:94607793..94610758,2	K562	blood:
2	chr9:94597586..94601465-chr9:94602257..94605897,5	K562	blood:
3	chr9:94596679..94601637-chr9:94602257..94606458,6	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10118409	1.00[CEU][hapmap]
rs10121694	1.00[CEU][hapmap]
rs10122415	1.00[CEU][hapmap]
rs10512218	1.00[JPT][hapmap]
rs12002460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12002884	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12003273	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]
rs12003585	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16907830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16907873	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs16907877	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16907893	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16907940	1.00[JPT][hapmap]
rs1881386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1919104	1.00[CEU][hapmap]
rs28802998	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59004196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61160043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7022887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7031514	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7033888	1.00[CEU][hapmap]
rs7041908	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7045602	1.00[CEU][hapmap]
rs7045708	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73651562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73651565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73651566	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73651574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651579	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651580	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651581	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651582	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651583	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651584	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7847748	0.87[YRI][hapmap]
rs7848959	1.00[CEU][hapmap]
rs7866996	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7874163	0.86[YRI][hapmap]
rs9969713	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94595400-94599800	Enhancers	Ovary	ovary
3	chr9:94595600-94599200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:94595600-94599800	Weak transcription	K562	blood
5	chr9:94595600-94600000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:94595600-94600600	Enhancers	Fetal Stomach	stomach
7	chr9:94595800-94600200	Enhancers	Fetal Lung	lung
8	chr9:94596400-94605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:94596600-94600200	Enhancers	Rectal Smooth Muscle	rectum
10	chr9:94596600-94600400	Weak transcription	NHDF-Ad	bronchial
11	chr9:94596600-94600600	Weak transcription	Spleen	Spleen
12	chr9:94596800-94600800	Weak transcription	Esophagus	oesophagus
13	chr9:94597000-94599800	Enhancers	Fetal Heart	heart
14	chr9:94597000-94605800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:94597200-94600200	Enhancers	Colon Smooth Muscle	Colon
16	chr9:94597600-94599200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:94597600-94600400	Weak transcription	Fetal Intestine Large	intestine
18	chr9:94597600-94600600	Weak transcription	Pancreas	Pancrea
19	chr9:94597600-94601600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:94597800-94600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:94597800-94602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:94598000-94599200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:94598000-94600200	Weak transcription	Fetal Intestine Small	intestine
24	chr9:94598000-94604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:94598200-94599200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:94598200-94599800	Weak transcription	Fetal Kidney	kidney
27	chr9:94598200-94600200	Weak transcription	Right Atrium	heart
28	chr9:94598200-94605600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:94598400-94599800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:94598400-94600200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:94598600-94599200	Enhancers	Placenta	Placenta
32	chr9:94598600-94599600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:94598800-94599200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:94598800-94599200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:94598800-94599200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:94598800-94599200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:94598800-94599200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:94598800-94599200	Enhancers	Right Ventricle	heart
39	chr9:94598800-94600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:94598800-94600400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:94598800-94600400	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:94599000-94599200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:94599000-94599200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr9:94599000-94599200	Enhancers	Gastric	stomach
45	chr9:94599000-94599200	Enhancers	Lung	lung
46	chr9:94599000-94599200	Enhancers	GM12878-XiMat	blood
47	chr9:94599000-94599800	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:94599000-94600400	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:94599000-94600800	Enhancers	Primary B cells from peripheral blood	blood

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