Variant report

Variant	rs60206634
Chromosome Location	chr13:49837878-49837879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49829901..49832878-chr13:49837341..49839514,2	K562	blood:
2	chr13:49835568..49837886-chr13:49841764..49843487,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56215860	0.81[AFR][1000 genomes]
rs56324393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57186245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58348334	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58573539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58767585	1.00[AMR][1000 genomes]
rs58769218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575421	1.00[AMR][1000 genomes]
rs61061843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61131788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61198714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61242896	1.00[AMR][1000 genomes]
rs7358925	1.00[AMR][1000 genomes]
rs74072778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072779	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074539	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49823000-49838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:49823000-49838200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:49823000-49844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:49823400-49844000	Weak transcription	A549	lung
5	chr13:49823600-49843200	Weak transcription	NHEK	skin
6	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
7	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
8	chr13:49827800-49839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:49831200-49845200	Weak transcription	NH-A	brain
10	chr13:49832000-49843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:49832800-49838200	Strong transcription	NHDF-Ad	bronchial
12	chr13:49832800-49838600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr13:49832800-49844800	Strong transcription	Dnd41	blood
14	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:49833200-49852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:49833400-49838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:49833400-49838400	Strong transcription	Liver	Liver
22	chr13:49833400-49838400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr13:49833400-49838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:49833400-49838800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr13:49833600-49838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:49834000-49846400	Weak transcription	Pancreas	Pancrea
27	chr13:49834200-49855600	Weak transcription	Fetal Intestine Small	intestine
28	chr13:49834200-49875200	Weak transcription	Gastric	stomach
29	chr13:49834600-49845600	Weak transcription	Fetal Kidney	kidney
30	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
31	chr13:49834800-49841400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr13:49834800-49841400	Weak transcription	HUVEC	blood vessel
33	chr13:49834800-49853200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:49834800-49873000	Weak transcription	HMEC	breast
35	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
36	chr13:49835200-49843800	Weak transcription	NHLF	lung
37	chr13:49835200-49846800	Weak transcription	HepG2	liver
38	chr13:49835400-49839800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:49835400-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:49835600-49841600	Weak transcription	Lung	lung
41	chr13:49835600-49841800	Weak transcription	Osteobl	bone
42	chr13:49835600-49843200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:49835600-49843600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:49835600-49846600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:49835600-49846800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:49835600-49866800	Weak transcription	Brain Angular Gyrus	brain
47	chr13:49835600-49866800	Weak transcription	Brain Germinal Matrix	brain
48	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
50	chr13:49835800-49841600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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