Variant report

Variant	rs1317503
Chromosome Location	chr13:95918907-95918908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95911255..95914596-chr13:95915357..95918944,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10508020	0.88[ASN][1000 genomes]
rs11842634	0.89[EUR][1000 genomes]
rs11843001	0.89[EUR][1000 genomes]
rs16950847	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16952754	0.85[ASN][1000 genomes]
rs2389225	1.00[ASN][1000 genomes]
rs4148427	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148428	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148432	0.89[EUR][1000 genomes]
rs4148433	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61972725	0.85[ASN][1000 genomes]
rs7317603	0.89[EUR][1000 genomes]
rs7318952	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319126	1.00[ASN][1000 genomes]
rs7320375	0.84[EUR][1000 genomes]
rs7321807	1.00[ASN][1000 genomes]
rs7321885	0.98[ASN][1000 genomes]
rs7323283	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7324737	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7328332	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336051	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7337228	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7986087	0.89[EUR][1000 genomes]
rs871175	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9590227	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95896200-95923400	Weak transcription	Ovary	ovary
3	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:95898800-95919600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:95899000-95919600	Weak transcription	Fetal Lung	lung
6	chr13:95899800-95919600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:95900000-95919000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:95900000-95920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:95908000-95926600	Weak transcription	Gastric	stomach
10	chr13:95908800-95919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:95908800-95919400	Weak transcription	NH-A	brain
12	chr13:95908800-95919600	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:95908800-95919600	Weak transcription	HSMMtube	muscle
14	chr13:95908800-95920000	Weak transcription	Pancreas	Pancrea
15	chr13:95909000-95919400	Weak transcription	HSMM	muscle
16	chr13:95909200-95919600	Weak transcription	NHEK	skin
17	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:95913600-95920000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr13:95916400-95922000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:95917200-95919600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:95917600-95919800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:95917600-95919800	Weak transcription	Fetal Kidney	kidney
25	chr13:95917800-95919000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:95917800-95919000	ZNF genes & repeats	A549	lung
27	chr13:95917800-95919800	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr13:95917800-95920400	ZNF genes & repeats	GM12878-XiMat	blood
29	chr13:95918000-95919000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr13:95918000-95919000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:95918000-95919600	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:95918200-95919000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:95918200-95919000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:95918200-95919600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:95918200-95920200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:95918200-95920200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr13:95918400-95919000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:95918400-95919000	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr13:95918400-95923400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:95918600-95919000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:95918600-95919000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:95918600-95919000	ZNF genes & repeats	NHDF-Ad	bronchial
43	chr13:95918600-95919200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr13:95918600-95919600	Strong transcription	K562	blood
45	chr13:95918600-95920000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:95918600-95921000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:95918800-95919000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:95918800-95919000	ZNF genes & repeats	Esophagus	oesophagus
49	chr13:95918800-95919000	ZNF genes & repeats	Lung	lung
50	chr13:95918800-95919000	Strong transcription	NHLF	lung

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