Variant report

Variant	rs11593722
Chromosome Location	chr10:97006105-97006106
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97004316..97007342-chr10:97122955..97125277,3	MCF-7	breast:
2	chr10:97002945..97004630-chr10:97004800..97006467,2	K562	blood:
3	chr10:97005723..97007113-chr10:97122606..97124048,9	MCF-7	breast:
4	chr10:97003964..97007161-chr10:97008382..97011315,3	K562	blood:
5	chr10:97004348..97006901-chr10:97009361..97013623,3	MCF-7	breast:
6	chr10:97002381..97008883-chr10:97045266..97052392,13	MCF-7	breast:
7	chr10:97006028..97006567-chr10:97049362..97049915,2	MCF-7	breast:
8	chr10:97004085..97006971-chr10:97024831..97027710,2	K562	blood:
9	chr10:97005988..97007143-chr10:97122763..97123733,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107438	Chromatin interaction

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];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs11188250	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188255	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11594748	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413028	0.86[AMR][1000 genomes]
rs12415795	0.86[AMR][1000 genomes]
rs12775067	0.87[EUR][1000 genomes]
rs1385065	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17110556	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]
rs2296961	1.00[CHB][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35497513	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918905	0.87[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	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61871367	0.86[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	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:96991000-97006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:96991000-97006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:96991000-97006600	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:96991000-97006600	Weak transcription	Right Atrium	heart
6	chr10:96991000-97007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:96991000-97020400	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:96991000-97024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:96991400-97019000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:96992200-97009000	Strong transcription	Liver	Liver
11	chr10:96992400-97006200	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr10:96996200-97006600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr10:96996400-97016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:96996600-97007000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:96996800-97006600	Weak transcription	HUVEC	blood vessel
16	chr10:96996800-97009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:96997600-97006200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:96998000-97006400	Weak transcription	NHDF-Ad	bronchial
19	chr10:96998200-97009400	Weak transcription	Small Intestine	intestine
20	chr10:96998400-97006200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:96998400-97006400	Weak transcription	HSMM	muscle
22	chr10:96998400-97006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:96998400-97030200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:96999600-97008600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:96999800-97006600	Strong transcription	Adipose Nuclei	Adipose
26	chr10:96999800-97009000	Strong transcription	Primary B cells from cord blood	blood
27	chr10:97000000-97006400	Strong transcription	NHEK	skin
28	chr10:97000000-97006600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:97000000-97006800	Strong transcription	Gastric	stomach
30	chr10:97000000-97009400	Strong transcription	Colonic Mucosa	Colon
31	chr10:97000200-97006600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:97000400-97006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:97000400-97006600	Strong transcription	HepG2	liver
34	chr10:97000400-97024400	Weak transcription	Fetal Kidney	kidney
35	chr10:97001400-97006600	Weak transcription	HSMMtube	muscle
36	chr10:97001600-97006400	Strong transcription	Left Ventricle	heart
37	chr10:97001600-97008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:97001800-97006200	Weak transcription	Fetal Heart	heart
39	chr10:97001800-97007600	Strong transcription	Lung	lung
40	chr10:97002000-97006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:97002000-97006200	Strong transcription	Aorta	Aorta
42	chr10:97002000-97006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:97002600-97007000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr10:97002800-97006800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:97003000-97006600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:97003200-97006600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:97003400-97006400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:97003400-97006400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:97003400-97006400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:97003400-97006400	Strong transcription	HMEC	breast

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