Variant report

Variant	rs11147399
Chromosome Location	chr13:30360405-30360406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10492458	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17625384	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17631187	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278050	0.81[CHD][hapmap]
rs278051	1.00[CEU][hapmap];0.81[CHD][hapmap];0.92[TSI][hapmap]
rs9550497	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9550500	1.00[CEU][hapmap]
rs9551735	0.83[EUR][1000 genomes]
rs9551740	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9551742	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9551746	0.81[CHB][hapmap];0.92[CHD][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9551747	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9634356	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980524	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3434510	chr13:30360390-30360503	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
2	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:30341800-30363600	Weak transcription	HSMM	muscle
7	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:30347600-30361800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:30347800-30361400	Weak transcription	A549	lung
10	chr13:30349800-30364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:30350200-30361800	Weak transcription	Fetal Lung	lung
12	chr13:30350400-30361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:30353400-30361600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:30354200-30361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:30355400-30362000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:30357200-30363000	Weak transcription	Ovary	ovary
17	chr13:30357600-30364600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:30359000-30365600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:30359000-30367200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:30359800-30360600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:30359800-30360800	Enhancers	Fetal Intestine Small	intestine
22	chr13:30359800-30361000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:30359800-30361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:30359800-30361400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:30359800-30362000	Enhancers	Duodenum Mucosa	Duodenum
26	chr13:30359800-30362600	Enhancers	Liver	Liver
27	chr13:30360000-30360600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:30360000-30360600	Enhancers	Fetal Intestine Large	intestine
29	chr13:30360000-30360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:30360000-30360800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr13:30360000-30362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:30360200-30360600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr13:30360200-30360600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30360200-30360600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr13:30360200-30360600	Enhancers	Gastric	stomach
36	chr13:30360200-30360600	Enhancers	Left Ventricle	heart
37	chr13:30360200-30360600	Enhancers	Pancreas	Pancrea
38	chr13:30360200-30360600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr13:30360200-30360600	Enhancers	Psoas Muscle	Psoas
40	chr13:30360200-30360600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr13:30360200-30360600	Enhancers	Right Atrium	heart
42	chr13:30360200-30360600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:30360200-30360600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr13:30360200-30360600	Enhancers	Small Intestine	intestine
45	chr13:30360200-30360800	Enhancers	Brain Angular Gyrus	brain
46	chr13:30360200-30360800	Enhancers	NHDF-Ad	bronchial
47	chr13:30360200-30361000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:30360200-30362800	Enhancers	Osteobl	bone
49	chr13:30360400-30360600	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:30360400-30360800	Enhancers	Primary T helper cells PMA-I stimulated	--

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