Variant report

Variant	rs2444248
Chromosome Location	chr15:43735320-43735321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43708207..43710926-chr15:43733215..43735365,2	K562	blood:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs1814540	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2245161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2249948	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509197	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567249	1.00[AMR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs690262	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs933942	1.00[AMR][1000 genomes];1.00[EUR][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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
3	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
9	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
10	chr15:43721600-43740200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:43722000-43740000	Strong transcription	Fetal Muscle Leg	muscle
12	chr15:43724800-43738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:43724800-43738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:43725000-43747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43725000-43748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:43725000-43748800	Weak transcription	Esophagus	oesophagus
17	chr15:43725200-43737000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:43726400-43748600	Weak transcription	Psoas Muscle	Psoas
19	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
20	chr15:43726800-43736000	Strong transcription	Fetal Intestine Small	intestine
21	chr15:43726800-43740000	Strong transcription	Fetal Stomach	stomach
22	chr15:43728200-43740000	Strong transcription	Fetal Intestine Large	intestine
23	chr15:43729000-43738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:43730400-43738600	Weak transcription	Gastric	stomach
25	chr15:43730400-43738600	Weak transcription	Lung	lung
26	chr15:43730600-43737000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:43730600-43737400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:43730600-43737400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:43730600-43738000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:43730600-43738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:43730600-43738600	Weak transcription	Ovary	ovary
32	chr15:43730600-43738600	Weak transcription	Thymus	Thymus
33	chr15:43730600-43748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:43730600-43748000	Weak transcription	Aorta	Aorta
35	chr15:43730600-43748000	Weak transcription	Fetal Brain Male	brain
36	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
38	chr15:43730800-43736000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:43730800-43736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:43730800-43736600	Weak transcription	Fetal Brain Female	brain
41	chr15:43730800-43736800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:43731000-43736200	Weak transcription	Primary B cells from cord blood	blood
43	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:43731800-43736600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:43731800-43736600	Weak transcription	Liver	Liver
46	chr15:43731800-43736600	Weak transcription	NHLF	lung
47	chr15:43731800-43738600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:43731800-43748000	Weak transcription	Spleen	Spleen
49	chr15:43731800-43752000	Weak transcription	Pancreas	Pancrea
50	chr15:43732000-43738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links