Variant report

Variant	rs9600552
Chromosome Location	chr13:76372084-76372085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2273995	1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3783027	1.00[EUR][1000 genomes]
rs56915688	1.00[EUR][1000 genomes]
rs57908776	1.00[EUR][1000 genomes]
rs58875660	1.00[EUR][1000 genomes]
rs59762752	1.00[EUR][1000 genomes]
rs685938	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324230	0.81[JPT][hapmap]
rs73542522	1.00[EUR][1000 genomes]
rs73542559	1.00[EUR][1000 genomes]
rs74096469	1.00[EUR][1000 genomes]
rs7995235	1.00[EUR][1000 genomes]
rs7998891	1.00[EUR][1000 genomes]
rs7999724	1.00[EUR][1000 genomes]
rs8001459	1.00[EUR][1000 genomes]
rs9318372	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9318374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9593125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593127	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9593128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76362000-76376600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:76362600-76377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:76363000-76377000	Weak transcription	GM12878-XiMat	blood
6	chr13:76363200-76372400	Weak transcription	HMEC	breast
7	chr13:76363200-76376400	Weak transcription	Esophagus	oesophagus
8	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
9	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:76366400-76372800	Weak transcription	Right Ventricle	heart
11	chr13:76366400-76376600	Weak transcription	Left Ventricle	heart
12	chr13:76366400-76380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:76366800-76374800	Weak transcription	Aorta	Aorta
14	chr13:76366800-76376600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr13:76366800-76379400	Weak transcription	Pancreas	Pancrea
16	chr13:76366800-76379400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:76366800-76380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:76366800-76380200	Weak transcription	Lung	lung
19	chr13:76367000-76374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:76367000-76377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr13:76367000-76379800	Weak transcription	Brain Angular Gyrus	brain
22	chr13:76367000-76380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:76367000-76387000	Weak transcription	Ovary	ovary
24	chr13:76367200-76374200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:76367200-76377400	Weak transcription	Fetal Kidney	kidney
26	chr13:76367400-76373000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:76367400-76374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr13:76367400-76374400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:76367400-76377400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:76367400-76380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
32	chr13:76369000-76374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:76369200-76372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:76369600-76377400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:76369800-76376800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
37	chr13:76370600-76372200	Strong transcription	Primary T cells from cord blood	blood
38	chr13:76370800-76372200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:76370800-76372200	Strong transcription	Fetal Muscle Leg	muscle
40	chr13:76370800-76372400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:76370800-76373400	Enhancers	Fetal Intestine Small	intestine
42	chr13:76370800-76373400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr13:76370800-76373400	Strong transcription	Thymus	Thymus
44	chr13:76370800-76375200	Genic enhancers	NHDF-Ad	bronchial
45	chr13:76370800-76375800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:76370800-76378800	Genic enhancers	Osteobl	bone
47	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:76371000-76372200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr13:76371000-76372200	Genic enhancers	Fetal Intestine Large	intestine
50	chr13:76371000-76373000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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