Variant report

Variant	rs1323931
Chromosome Location	chr13:30385510-30385511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1058650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11147398	0.89[ASN][1000 genomes]
rs12872400	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1410110	0.81[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1927193	0.80[ASN][1000 genomes]
rs2025604	0.93[ASN][1000 genomes]
rs2182129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2234416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2388246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2388247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2761938	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2761939	0.87[ASN][1000 genomes]
rs2761940	0.84[ASN][1000 genomes]
rs278034	0.84[ASN][1000 genomes]
rs278049	0.83[CHB][hapmap]
rs35541102	0.99[ASN][1000 genomes]
rs3818368	0.82[CEU][hapmap]
rs4083610	0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs4238128	0.87[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4265673	0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4297554	1.00[ASN][1000 genomes]
rs4769775	0.89[ASN][1000 genomes]
rs6490429	0.91[ASN][1000 genomes]
rs6490430	0.91[ASN][1000 genomes]
rs72623487	0.89[ASN][1000 genomes]
rs7320474	1.00[ASN][1000 genomes]
rs7326253	0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7330356	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs7335148	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs765404	0.93[ASN][1000 genomes]
rs7981622	0.96[ASN][1000 genomes]
rs7995666	0.87[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9314972	0.80[ASN][1000 genomes]
rs9314975	0.88[ASN][1000 genomes]
rs9314978	1.00[ASN][1000 genomes]
rs9506226	0.99[ASN][1000 genomes]
rs9506229	0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs9506231	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9506233	0.96[ASN][1000 genomes]
rs9508553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508554	0.81[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9508557	1.00[ASN][1000 genomes]
rs9508558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9508559	0.99[ASN][1000 genomes]
rs9508560	0.94[ASN][1000 genomes]
rs9508561	0.88[ASN][1000 genomes]
rs9508564	0.96[ASN][1000 genomes]
rs9508568	0.84[ASN][1000 genomes]
rs9508575	0.82[CEU][hapmap]
rs9550494	0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs9551741	0.90[ASN][1000 genomes]
rs9551744	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9551751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9551753	0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs9551755	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9578136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9578139	0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376400-30386000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr13:30376600-30385600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:30377400-30390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:30378000-30391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:30380600-30386800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:30381200-30385800	Enhancers	Brain Angular Gyrus	brain
8	chr13:30381400-30385600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:30381400-30386600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:30381400-30386800	Enhancers	Stomach Mucosa	stomach
11	chr13:30381600-30390600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:30382600-30388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:30382600-30388800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:30382600-30390800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:30382800-30385800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr13:30383200-30385600	Enhancers	Brain Cingulate Gyrus	brain
17	chr13:30383200-30385800	Enhancers	Brain Anterior Caudate	brain
18	chr13:30383200-30385800	Enhancers	Brain Hippocampus Middle	brain
19	chr13:30383200-30385800	Enhancers	Fetal Heart	heart
20	chr13:30383200-30385800	Enhancers	Small Intestine	intestine
21	chr13:30383200-30386000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr13:30383200-30386200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:30383200-30386600	Enhancers	HepG2	liver
24	chr13:30383400-30385600	Enhancers	Fetal Lung	lung
25	chr13:30383400-30385800	Enhancers	Duodenum Mucosa	Duodenum
26	chr13:30383400-30385800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr13:30383400-30386000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr13:30383600-30385600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:30383600-30385800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:30383600-30385800	Enhancers	Brain Substantia Nigra	brain
31	chr13:30383600-30389200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr13:30384000-30385600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr13:30384000-30386000	Enhancers	Fetal Intestine Small	intestine
34	chr13:30384200-30385600	Enhancers	Brain Germinal Matrix	brain
35	chr13:30384200-30386000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:30384200-30386000	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:30384400-30385800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:30384400-30385800	Enhancers	Fetal Intestine Large	intestine
39	chr13:30384600-30386000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:30384600-30386400	Enhancers	Ovary	ovary
41	chr13:30384800-30386000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:30384800-30387600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:30384800-30389600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:30385000-30385800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:30385000-30385800	Enhancers	Pancreas	Pancrea
46	chr13:30385000-30385800	Enhancers	Psoas Muscle	Psoas
47	chr13:30385000-30385800	Enhancers	Right Ventricle	heart
48	chr13:30385000-30391400	Weak transcription	Osteobl	bone
49	chr13:30385200-30385600	Weak transcription	Left Ventricle	heart
50	chr13:30385200-30385600	Enhancers	GM12878-XiMat	blood

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