Variant report

Variant	rs59636982
Chromosome Location	chr12:49082831-49082832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101907..49104961,3	K562	blood:
2	chr12:48744161..48745833-chr12:49082772..49084954,2	MCF-7	breast:
3	chr12:49072887..49077758-chr12:49080125..49086735,20	MCF-7	breast:
4	chr12:49079132..49081728-chr12:49082778..49085110,2	K562	blood:
5	chr12:49081356..49082903-chr12:49083165..49085083,2	MCF-7	breast:
6	chr12:49082621..49084947-chr12:49105438..49107834,2	K562	blood:
7	chr12:49081164..49084548-chr12:49085177..49089897,6	K562	blood:
8	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNT1-1	chr12:49082247-49086290	NONHSAT028017

No data

Variant related genes	Relation type
ENSG00000257735	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000167528	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11830884	1.00[AMR][1000 genomes]
rs11837122	1.00[AMR][1000 genomes]
rs11838289	1.00[AMR][1000 genomes]
rs11838360	1.00[AMR][1000 genomes]
rs3902956	0.81[AFR][1000 genomes]
rs56015238	0.81[AFR][1000 genomes]
rs56306303	0.81[AFR][1000 genomes]
rs56942518	0.81[AFR][1000 genomes]
rs57454425	1.00[AMR][1000 genomes]
rs58685133	0.81[AFR][1000 genomes]
rs60351852	1.00[AMR][1000 genomes]
rs61522435	0.81[AFR][1000 genomes]
rs61663947	1.00[AMR][1000 genomes]
rs7312311	1.00[AMR][1000 genomes]
rs74088109	0.81[AFR][1000 genomes]
rs74088111	0.81[AFR][1000 genomes]
rs74088113	0.81[AFR][1000 genomes]
rs74088131	1.00[AMR][1000 genomes]
rs74088132	0.81[AFR][1000 genomes]
rs74088137	1.00[AMR][1000 genomes]
rs74088154	0.81[AFR][1000 genomes]
rs74088160	0.81[AFR][1000 genomes]
rs74088162	0.81[AFR][1000 genomes]
rs74088163	1.00[AMR][1000 genomes]
rs74088167	1.00[AMR][1000 genomes]
rs74089309	0.81[AFR][1000 genomes]
rs74089329	0.81[AFR][1000 genomes]
rs74089330	0.81[AFR][1000 genomes]
rs74089332	0.81[AFR][1000 genomes]
rs74089333	0.81[AFR][1000 genomes]
rs74089334	0.81[AFR][1000 genomes]
rs74089339	0.81[AFR][1000 genomes]
rs74089356	0.81[AFR][1000 genomes]
rs74089365	0.81[AFR][1000 genomes]
rs7961105	1.00[AMR][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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076000-49087000	Weak transcription	Stomach Mucosa	stomach
2	chr12:49076400-49083200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49076600-49083600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:49076600-49083800	Weak transcription	Lung	lung
5	chr12:49076600-49084200	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:49076600-49084200	Weak transcription	Psoas Muscle	Psoas
7	chr12:49076600-49084200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:49076600-49084200	Weak transcription	Small Intestine	intestine
9	chr12:49076600-49084200	Weak transcription	NHLF	lung
10	chr12:49076600-49084800	Weak transcription	Colonic Mucosa	Colon
11	chr12:49076600-49085600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49076600-49086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:49076600-49086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:49076600-49086400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:49076600-49086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:49076600-49086600	Weak transcription	Fetal Kidney	kidney
17	chr12:49076600-49086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:49076600-49086800	Weak transcription	Aorta	Aorta
19	chr12:49076600-49086800	Weak transcription	Esophagus	oesophagus
20	chr12:49076600-49086800	Weak transcription	Gastric	stomach
21	chr12:49076600-49086800	Weak transcription	Ovary	ovary
22	chr12:49076600-49086800	Weak transcription	Pancreas	Pancrea
23	chr12:49076600-49086800	Weak transcription	Spleen	Spleen
24	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:49076800-49083600	Weak transcription	Fetal Brain Female	brain
27	chr12:49076800-49083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:49076800-49083800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:49076800-49084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:49076800-49084200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:49076800-49084400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:49076800-49085400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:49076800-49085800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:49076800-49085800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:49076800-49086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:49076800-49086800	Weak transcription	Fetal Intestine Small	intestine
37	chr12:49077000-49083000	Weak transcription	HUVEC	blood vessel
38	chr12:49077000-49083000	Weak transcription	NHEK	skin
39	chr12:49077000-49084200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:49077000-49084400	Weak transcription	Right Ventricle	heart
41	chr12:49077000-49084800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:49077000-49085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:49077000-49085800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:49077000-49086800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:49077000-49087000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:49077200-49083800	Weak transcription	HepG2	liver
47	chr12:49077200-49085600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:49077200-49085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:49077200-49086400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:49077200-49087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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