Variant report

Variant	rs9318374
Chromosome Location	chr13:76372414-76372415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2273995	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]
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]
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[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]
rs9600552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600553	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	chr13:76363200-76376400	Weak transcription	Esophagus	oesophagus
7	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
8	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:76366400-76372800	Weak transcription	Right Ventricle	heart
10	chr13:76366400-76376600	Weak transcription	Left Ventricle	heart
11	chr13:76366400-76380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:76366800-76374800	Weak transcription	Aorta	Aorta
13	chr13:76366800-76376600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:76366800-76379400	Weak transcription	Pancreas	Pancrea
15	chr13:76366800-76379400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:76366800-76380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:76366800-76380200	Weak transcription	Lung	lung
18	chr13:76367000-76374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:76367000-76377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:76367000-76379800	Weak transcription	Brain Angular Gyrus	brain
21	chr13:76367000-76380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:76367000-76387000	Weak transcription	Ovary	ovary
23	chr13:76367200-76374200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:76367200-76377400	Weak transcription	Fetal Kidney	kidney
25	chr13:76367400-76373000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:76367400-76374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:76367400-76374400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:76367400-76377400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:76367400-76380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
31	chr13:76369000-76374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:76369600-76377400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:76369800-76376800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
35	chr13:76370800-76373400	Enhancers	Fetal Intestine Small	intestine
36	chr13:76370800-76373400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr13:76370800-76373400	Strong transcription	Thymus	Thymus
38	chr13:76370800-76375200	Genic enhancers	NHDF-Ad	bronchial
39	chr13:76370800-76375800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:76370800-76378800	Genic enhancers	Osteobl	bone
41	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:76371000-76373000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:76371000-76375400	Genic enhancers	HSMM	muscle
44	chr13:76371200-76373200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:76371400-76372800	Enhancers	Stomach Mucosa	stomach
46	chr13:76371400-76373000	Enhancers	HUVEC	blood vessel
47	chr13:76371400-76373400	Enhancers	NHEK	skin
48	chr13:76371400-76376600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:76371400-76376600	Weak transcription	Brain Anterior Caudate	brain
50	chr13:76371400-76379000	Weak transcription	Placenta	Placenta

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