Variant report

Variant	rs3818368
Chromosome Location	chr13:30351266-30351267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1323931	0.82[CEU][hapmap]
rs9508553	0.82[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.80[EUR][1000 genomes]
rs9508572	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9508579	0.85[MEX][hapmap]
rs9551751	0.82[CEU][hapmap]

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	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30328800-30351800	Weak transcription	NH-A	brain
2	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:30333200-30353800	Weak transcription	Gastric	stomach
5	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
6	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
7	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
10	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
12	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30337800-30359800	Weak transcription	HMEC	breast
14	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
24	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:30341800-30353800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr13:30341800-30354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr13:30341800-30354400	Weak transcription	Adipose Nuclei	Adipose
30	chr13:30341800-30359800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr13:30341800-30360200	Weak transcription	Left Ventricle	heart
32	chr13:30341800-30360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:30341800-30363600	Weak transcription	HSMM	muscle
34	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:30342000-30351800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:30342000-30356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:30342000-30357000	Weak transcription	NHDF-Ad	bronchial
38	chr13:30342000-30359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:30343400-30356600	Weak transcription	Liver	Liver
40	chr13:30343800-30360200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:30344000-30353000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr13:30344000-30357000	Weak transcription	Osteobl	bone
43	chr13:30344200-30351600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr13:30344200-30351600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr13:30344400-30359600	Weak transcription	Primary T cells from cord blood	blood
46	chr13:30344400-30360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:30345800-30360200	Weak transcription	Small Intestine	intestine
48	chr13:30346600-30359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:30347600-30361800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:30347800-30361400	Weak transcription	A549	lung

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