Variant report

Variant	rs74072788
Chromosome Location	chr13:49830155-49830156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49829443..49832408-chr13:49849139..49850660,2	MCF-7	breast:
2	chr13:49822038..49824450-chr13:49829451..49831388,2	K562	blood:
3	chr13:49829901..49832878-chr13:49837341..49839514,2	K562	blood:
4	chr13:49824887..49828830-chr13:49829772..49832807,6	K562	blood:

Variant related genes	Relation type
ENSG00000102543	Chromatin interaction

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]
rs60206634	1.00[AFR][1000 genomes];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]
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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49823000-49833600	Weak transcription	Esophagus	oesophagus
2	chr13:49823000-49833600	Weak transcription	Lung	lung
3	chr13:49823000-49833600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:49823000-49833800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:49823000-49833800	Weak transcription	Fetal Brain Male	brain
6	chr13:49823000-49836400	Weak transcription	Colonic Mucosa	Colon
7	chr13:49823000-49837000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:49823000-49838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:49823000-49838200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:49823000-49844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:49823200-49830200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:49823200-49832200	Weak transcription	Thymus	Thymus
13	chr13:49823200-49833600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:49823200-49833600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:49823200-49833600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49823200-49833600	Weak transcription	Fetal Kidney	kidney
17	chr13:49823200-49833600	Weak transcription	Placenta	Placenta
18	chr13:49823400-49830200	Weak transcription	HMEC	breast
19	chr13:49823400-49831800	Weak transcription	Fetal Brain Female	brain
20	chr13:49823400-49833600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:49823400-49835000	Weak transcription	Hela-S3	cervix
22	chr13:49823400-49837200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:49823400-49837400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:49823400-49837600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:49823400-49844000	Weak transcription	A549	lung
26	chr13:49823600-49833600	Weak transcription	Brain Angular Gyrus	brain
27	chr13:49823600-49833600	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:49823600-49833800	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:49823600-49835200	Weak transcription	K562	blood
30	chr13:49823600-49837400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:49823600-49843200	Weak transcription	NHEK	skin
32	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
33	chr13:49824000-49830200	Weak transcription	GM12878-XiMat	blood
34	chr13:49824000-49834600	Weak transcription	Fetal Heart	heart
35	chr13:49824800-49830400	Weak transcription	HepG2	liver
36	chr13:49824800-49833600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:49826400-49831800	Weak transcription	NHLF	lung
38	chr13:49826400-49833800	Weak transcription	Spleen	Spleen
39	chr13:49826600-49830400	Weak transcription	Right Ventricle	heart
40	chr13:49826600-49833600	Weak transcription	Gastric	stomach
41	chr13:49826600-49833600	Weak transcription	Pancreas	Pancrea
42	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
43	chr13:49827600-49831000	Strong transcription	HSMM	muscle
44	chr13:49827600-49837200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr13:49827800-49830400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:49827800-49832000	Strong transcription	Fetal Intestine Large	intestine
47	chr13:49827800-49832600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:49827800-49832800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:49827800-49834800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:49827800-49837000	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links