Variant report

Variant	rs17110556
Chromosome Location	chr10:97009306-97009307
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97008349-97009336	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97007670..97009998-chr10:97020607..97023208,2	K562	blood:
2	chr10:97003964..97007161-chr10:97008382..97011315,3	K562	blood:
3	chr10:97009240..97011138-chr10:97013509..97015080,2	MCF-7	breast:

Variant related genes	Relation type
PDLIM1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10786195	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs11188250	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188255	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11593722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594748	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413028	0.85[AMR][1000 genomes]
rs12415795	0.85[AMR][1000 genomes]
rs12775067	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1385065	0.80[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296961	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35497513	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918905	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918908	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58140424	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61871367	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
7	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:97000000-97009400	Strong transcription	Colonic Mucosa	Colon
9	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
10	chr10:97004800-97009800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:97005600-97011000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:97005600-97011800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:97006200-97011400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:97006200-97017600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:97006400-97009600	Enhancers	NHDF-Ad	bronchial
16	chr10:97006400-97019600	Weak transcription	K562	blood
17	chr10:97006600-97009600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:97006600-97010000	Enhancers	Right Atrium	heart
19	chr10:97006600-97010000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:97006800-97009400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:97006800-97009800	Genic enhancers	GM12878-XiMat	blood
22	chr10:97007000-97009800	Enhancers	Fetal Heart	heart
23	chr10:97007000-97026400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr10:97007200-97012200	Strong transcription	Fetal Stomach	stomach
25	chr10:97007200-97013000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:97007600-97009800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:97007600-97009800	Genic enhancers	Spleen	Spleen
28	chr10:97007600-97014000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:97007600-97020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:97007800-97012200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr10:97007800-97012200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:97007800-97020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:97008000-97009600	Genic enhancers	NHEK	skin
34	chr10:97008000-97009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:97008000-97010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:97008000-97016000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:97008000-97016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:97008000-97016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr10:97008000-97019400	Weak transcription	Placenta	Placenta
40	chr10:97008000-97020200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:97008200-97009400	Strong transcription	Fetal Intestine Small	intestine
42	chr10:97008200-97009800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:97008200-97010000	Genic enhancers	NHLF	lung
44	chr10:97008200-97011600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:97008200-97012800	Weak transcription	Stomach Mucosa	stomach
46	chr10:97008200-97017800	Weak transcription	Osteobl	bone
47	chr10:97008400-97009400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:97008400-97009400	Genic enhancers	HMEC	breast
49	chr10:97008400-97009600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:97008400-97009800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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