Variant report

Variant	rs9314975
Chromosome Location	chr13:30336582-30336583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1058650	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11147398	0.81[ASN][1000 genomes]
rs12872400	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1323931	0.88[ASN][1000 genomes]
rs1854176	0.90[ASN][1000 genomes]
rs1927193	0.88[ASN][1000 genomes]
rs2025604	0.82[ASN][1000 genomes]
rs2182129	0.82[ASN][1000 genomes]
rs2234416	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2388246	0.82[ASN][1000 genomes]
rs35541102	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4083610	0.81[ASN][1000 genomes]
rs4238128	0.81[ASN][1000 genomes]
rs4297554	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4387451	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4769772	0.91[ASN][1000 genomes]
rs4769775	0.81[ASN][1000 genomes]
rs72623487	0.98[ASN][1000 genomes]
rs7320474	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7342470	0.87[ASN][1000 genomes]
rs765404	0.82[ASN][1000 genomes]
rs7981622	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7995666	0.81[ASN][1000 genomes]
rs9314972	0.88[ASN][1000 genomes]
rs9314973	0.89[ASN][1000 genomes]
rs9314974	0.89[ASN][1000 genomes]
rs9314978	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9506226	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9506231	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9506233	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9508550	0.90[ASN][1000 genomes]
rs9508553	0.88[ASN][1000 genomes]
rs9508554	0.81[ASN][1000 genomes]
rs9508557	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508558	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9508559	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9508560	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9508561	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9508564	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9551739	0.91[ASN][1000 genomes]
rs9551741	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9551751	0.83[ASN][1000 genomes]
rs9578136	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
3	chr13:30328400-30337200	Weak transcription	Osteobl	bone
4	chr13:30328400-30340600	Weak transcription	NHLF	lung
5	chr13:30328600-30337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:30328800-30337200	Weak transcription	NHDF-Ad	bronchial
8	chr13:30328800-30337400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:30328800-30340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30328800-30340400	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:30328800-30340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
13	chr13:30328800-30351800	Weak transcription	NH-A	brain
14	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:30329200-30338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:30329200-30340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:30329200-30340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:30333000-30340600	Weak transcription	Fetal Thymus	thymus
21	chr13:30333000-30340600	Weak transcription	Thymus	Thymus
22	chr13:30333200-30338000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr13:30333200-30338400	Weak transcription	Stomach Mucosa	stomach
24	chr13:30333200-30338800	Weak transcription	HSMM	muscle
25	chr13:30333200-30340200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:30333200-30340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:30333200-30353800	Weak transcription	Gastric	stomach
28	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
29	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
30	chr13:30333400-30337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:30333400-30337200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:30333400-30337400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:30333400-30338000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:30333400-30340400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:30333400-30340600	Weak transcription	Placenta	Placenta
36	chr13:30333400-30345800	Weak transcription	HepG2	liver
37	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:30333600-30337800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr13:30333600-30338000	Weak transcription	Primary B cells from cord blood	blood
40	chr13:30333600-30340000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr13:30333600-30340400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:30333600-30340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:30333800-30337200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:30334800-30340800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
47	chr13:30335400-30338000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:30335400-30338200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
50	chr13:30335600-30337200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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