Variant report

Variant	rs10993057
Chromosome Location	chr9:96869751-96869752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96860355..96862707-chr9:96868776..96872890,3	K562	blood:
2	chr9:96864692..96867836-chr9:96868310..96870488,3	K562	blood:
3	chr9:96861323..96864485-chr9:96867388..96870622,3	K562	blood:

Variant related genes	Relation type
ENSG00000158079	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10114421	0.89[EUR][1000 genomes]
rs10114811	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10116489	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10116746	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10122071	0.91[EUR][1000 genomes]
rs10761314	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10821272	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs10821276	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10821281	1.00[CEU][hapmap]
rs10821283	1.00[CEU][hapmap]
rs10821289	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10993009	0.89[EUR][1000 genomes]
rs10993028	0.88[EUR][1000 genomes]
rs10993030	0.83[EUR][1000 genomes]
rs10993032	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10993035	0.89[EUR][1000 genomes]
rs10993039	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10993044	0.91[EUR][1000 genomes]
rs11793324	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs11795301	0.89[EUR][1000 genomes]
rs12340234	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1933670	0.83[EUR][1000 genomes]
rs1963282	0.86[EUR][1000 genomes]
rs2211361	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs4743942	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs57094654	0.89[EUR][1000 genomes]
rs7020044	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs7045483	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7866395	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
3	nsv1043704	chr9:96816552-96873018	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
5	nsv893591	chr9:96849137-96883271	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2761543	chr9:96857735-96875582	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96829600-96872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:96845600-96885400	Weak transcription	Gastric	stomach
3	chr9:96846000-96870600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:96849400-96869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:96849400-96883800	Weak transcription	Brain Germinal Matrix	brain
6	chr9:96849600-96870400	Weak transcription	Fetal Lung	lung
7	chr9:96850600-96870000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:96857200-96871000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:96857200-96882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:96859200-96880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:96860200-96870200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:96860200-96876200	Weak transcription	Esophagus	oesophagus
13	chr9:96860400-96873400	Weak transcription	NHLF	lung
14	chr9:96860600-96870000	Weak transcription	A549	lung
15	chr9:96860600-96870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:96860600-96870800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:96860600-96871000	Weak transcription	Brain Angular Gyrus	brain
18	chr9:96860600-96871000	Weak transcription	Right Ventricle	heart
19	chr9:96860600-96872800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:96860800-96870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:96860800-96870800	Weak transcription	HSMM	muscle
22	chr9:96860800-96870800	Weak transcription	NH-A	brain
23	chr9:96860800-96870800	Weak transcription	NHDF-Ad	bronchial
24	chr9:96860800-96870800	Weak transcription	NHEK	skin
25	chr9:96860800-96871000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:96860800-96871000	Weak transcription	HMEC	breast
27	chr9:96860800-96872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:96860800-96872800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:96860800-96886800	Weak transcription	Aorta	Aorta
30	chr9:96861000-96884000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:96861200-96870600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:96861200-96870600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:96861200-96871000	Weak transcription	Lung	lung
34	chr9:96861400-96871000	Weak transcription	Left Ventricle	heart
35	chr9:96861400-96875200	Weak transcription	Pancreas	Pancrea
36	chr9:96861400-96884600	Weak transcription	Ovary	ovary
37	chr9:96861600-96870800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:96862600-96870800	Weak transcription	Brain Substantia Nigra	brain
39	chr9:96862600-96870800	Weak transcription	Fetal Stomach	stomach
40	chr9:96862800-96871000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:96863600-96870800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:96864000-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:96864200-96877600	Weak transcription	Primary T cells from cord blood	blood
44	chr9:96865600-96870800	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:96865600-96870800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:96865800-96872800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:96866200-96872000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr9:96867000-96870800	Weak transcription	Adipose Nuclei	Adipose
49	chr9:96867200-96870800	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:96867400-96873000	Weak transcription	Muscle Satellite Cultured Cells	--

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