Variant report

Variant	rs1553012
Chromosome Location	chr13:97983111-97983112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1463789	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1463790	0.83[CHB][hapmap]
rs1463791	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16952071	0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs17235649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782983	0.82[CHB][hapmap]
rs4771270	0.83[CHB][hapmap]
rs60635002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61972769	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6491350	0.82[CHB][hapmap]
rs7318821	0.81[YRI][hapmap]
rs7320865	0.83[CHB][hapmap]
rs7338689	0.83[CHB][hapmap]
rs9516909	0.80[CHB][hapmap]
rs9556701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556702	0.83[CHB][hapmap]
rs9584552	0.93[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9584559	0.81[YRI][hapmap]

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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3333582	chr13:97980451-97983549	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97925800-97987200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
3	chr13:97954400-97986200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:97955000-97987000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:97955200-97986800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:97959400-97988800	Weak transcription	Fetal Intestine Large	intestine
7	chr13:97961400-97987200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:97962000-97991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:97963000-97984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:97965200-97985800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:97965600-97988800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:97965800-97987200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:97967400-97991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:97969600-97987200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:97969800-97986600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:97971600-97991400	Weak transcription	Stomach Mucosa	stomach
17	chr13:97971800-97986400	Weak transcription	Primary T cells from cord blood	blood
18	chr13:97971800-97986400	Weak transcription	Aorta	Aorta
19	chr13:97971800-97986400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:97971800-97987200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:97971800-97987600	Weak transcription	Fetal Intestine Small	intestine
22	chr13:97971800-97987800	Weak transcription	Colonic Mucosa	Colon
23	chr13:97971800-97991800	Weak transcription	Small Intestine	intestine
24	chr13:97972000-97987200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:97972400-97986400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:97973000-97983200	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:97973200-97983400	Enhancers	Rectal Smooth Muscle	rectum
28	chr13:97976200-97990400	Weak transcription	Fetal Brain Male	brain
29	chr13:97977400-97987000	Weak transcription	Hela-S3	cervix
30	chr13:97978200-97987000	Enhancers	Colon Smooth Muscle	Colon
31	chr13:97979800-97986800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:97980000-97989000	Enhancers	Brain Hippocampus Middle	brain
33	chr13:97980200-97983200	Enhancers	Brain Anterior Caudate	brain
34	chr13:97980200-97984400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:97980600-97988000	Enhancers	Brain Substantia Nigra	brain
36	chr13:97980800-97984800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:97980800-97985000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:97980800-97987600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:97980800-97987600	Weak transcription	NHEK	skin
40	chr13:97980800-97988600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr13:97980800-97988600	Weak transcription	Fetal Thymus	thymus
42	chr13:97980800-97990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr13:97980800-97991800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:97981000-97983200	Enhancers	Stomach Smooth Muscle	stomach
45	chr13:97981000-97984600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:97981000-97986600	Weak transcription	Placenta	Placenta
47	chr13:97981000-97988200	Weak transcription	Osteobl	bone
48	chr13:97981000-97989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:97981000-97991400	Weak transcription	HMEC	breast
50	chr13:97981000-97998800	Weak transcription	Placenta Amnion	Placenta Amnion

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