Variant report

Variant	rs12002851
Chromosome Location	chr9:94601093-94601094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr9:94592183..94593862-chr9:94599250..94601160,2	K562	blood:
7	chr9:94597146..94598805-chr9:94600443..94602240,2	K562	blood:
8	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12002478	0.82[ASW][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12002827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12004009	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16907873	0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7032520	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73651567	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73651569	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73651570	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7847748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7849644	0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7874163	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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:65 , 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	chr9:94599800-94601200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:94599800-94601200	Flanking Active TSS	Fetal Heart	heart
14	chr9:94599800-94601800	Enhancers	K562	blood
15	chr9:94600000-94602800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:94600000-94605600	Weak transcription	Colonic Mucosa	Colon
17	chr9:94600200-94601200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:94600200-94601200	Enhancers	Brain Germinal Matrix	brain
19	chr9:94600200-94601200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr9:94600200-94601200	Enhancers	Fetal Intestine Small	intestine
21	chr9:94600200-94601400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:94600200-94601600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr9:94600200-94601600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr9:94600400-94601200	Flanking Active TSS	Fetal Brain Female	brain
25	chr9:94600400-94601200	Flanking Active TSS	Ovary	ovary
26	chr9:94600400-94601200	Enhancers	NHDF-Ad	bronchial
27	chr9:94600400-94601600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:94600400-94601600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:94600400-94602800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr9:94600600-94601200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
31	chr9:94600600-94601200	Flanking Active TSS	Fetal Stomach	stomach
32	chr9:94600600-94601200	Enhancers	Pancreas	Pancrea
33	chr9:94600600-94601400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:94600600-94601600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:94600600-94601800	Weak transcription	Fetal Kidney	kidney
36	chr9:94600600-94602000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:94600600-94602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:94600800-94601200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:94600800-94601200	Enhancers	Fetal Lung	lung
40	chr9:94600800-94601200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr9:94600800-94601400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:94600800-94601400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr9:94600800-94602200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:94601000-94601200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:94601000-94601200	Active TSS	Adipose Nuclei	Adipose
46	chr9:94601000-94601200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
47	chr9:94601000-94601200	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr9:94601000-94601200	Flanking Active TSS	Fetal Brain Male	brain
49	chr9:94601000-94601200	Active TSS	Right Atrium	heart
50	chr9:94601000-94601200	Flanking Bivalent TSS/Enh	NHEK	skin

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