Variant report

Variant	rs2328940
Chromosome Location	chr13:75939708-75939709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75936738..75942482-chr13:75944415..75947523,6	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1325466	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408930	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821127	0.97[ASN][1000 genomes]
rs2104418	0.89[EUR][1000 genomes]
rs3825441	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885286	0.92[EUR][1000 genomes]
rs6562886	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6562887	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7330729	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983831	0.92[EUR][1000 genomes]
rs7991823	0.97[ASN][1000 genomes]
rs7992747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998651	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565154	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565157	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573529	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573531	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573532	1.00[ASN][1000 genomes]
rs9573533	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75881800-75940000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:75902600-75947000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:75905400-75940000	Weak transcription	Small Intestine	intestine
4	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:75912000-75940800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:75923600-75940200	Weak transcription	Liver	Liver
7	chr13:75928000-75941800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:75928600-75940200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:75929800-75939800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:75932400-75944400	Weak transcription	Spleen	Spleen
12	chr13:75933000-75943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:75933400-75940200	Weak transcription	A549	lung
14	chr13:75934600-75939800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:75934800-75940000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:75934800-75947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr13:75936600-75939800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr13:75936600-75940000	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:75936600-75940000	Enhancers	NHEK	skin
20	chr13:75936600-75940200	Weak transcription	Right Atrium	heart
21	chr13:75936600-75942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:75936600-75942600	Weak transcription	Fetal Stomach	stomach
23	chr13:75936600-75942800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:75936600-75943000	Weak transcription	Ovary	ovary
25	chr13:75936600-75947600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:75936600-75947600	Weak transcription	Lung	lung
27	chr13:75936800-75940200	Weak transcription	Right Ventricle	heart
28	chr13:75937000-75940200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr13:75937000-75940600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:75937000-75941400	Enhancers	HMEC	breast
31	chr13:75937200-75940600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:75937200-75945600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:75937400-75940200	Enhancers	Fetal Heart	heart
34	chr13:75937600-75940600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:75937800-75945800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:75938000-75940200	Enhancers	NH-A	brain
37	chr13:75938200-75940000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:75938400-75939800	Enhancers	Osteobl	bone
39	chr13:75938400-75940600	Flanking Active TSS	HUVEC	blood vessel
40	chr13:75938400-75940800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr13:75938400-75941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:75938600-75941000	Weak transcription	Fetal Intestine Small	intestine
43	chr13:75938800-75940000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:75938800-75940200	Weak transcription	Left Ventricle	heart
45	chr13:75938800-75940200	Weak transcription	Psoas Muscle	Psoas
46	chr13:75938800-75940400	Weak transcription	HepG2	liver
47	chr13:75939000-75940800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:75939200-75940000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:75939200-75940000	Enhancers	HSMM	muscle
50	chr13:75939200-75941200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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