Variant report

Variant	rs4251527
Chromosome Location	chr12:44176863-44176864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44153544..44155237-chr12:44175086..44177097,2	K562	blood:
2	chr12:44176167..44177953-chr12:44185218..44186808,2	K562	blood:
3	chr12:44175577..44177667-chr12:44185276..44186808,2	K562	blood:
4	chr12:44175277..44178735-chr12:44199618..44201811,3	MCF-7	breast:
5	chr12:44174715..44177436-chr12:44197541..44199999,2	K562	blood:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1057190	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs10880552	0.86[EUR][1000 genomes]
rs10880553	0.86[EUR][1000 genomes]
rs10880554	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10880555	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10880556	0.86[EUR][1000 genomes]
rs10880557	0.87[CEU][hapmap]
rs10880558	1.00[CEU][hapmap]
rs10880562	1.00[CEU][hapmap]
rs10880563	1.00[CEU][hapmap]
rs10880565	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs11182235	0.83[TSI][hapmap]
rs11182236	0.83[TSI][hapmap]
rs11182240	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs11182242	1.00[CEU][hapmap]
rs11182246	1.00[CEU][hapmap]
rs11182250	1.00[CEU][hapmap]
rs12302873	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12305949	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12312327	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs12315211	0.82[JPT][hapmap]
rs12318086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12319024	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs17093639	0.82[JPT][hapmap]
rs3794262	1.00[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs3805198	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4251425	0.83[TSI][hapmap]
rs4251429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251459	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4251460	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4251465	0.87[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4251467	0.83[TSI][hapmap]
rs4251481	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251496	0.83[EUR][1000 genomes]
rs4251497	0.84[EUR][1000 genomes]
rs4251522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4251529	0.81[AMR][1000 genomes]
rs4251532	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4251533	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4251535	0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs4251555	0.83[EUR][1000 genomes]
rs57291280	0.89[ASN][1000 genomes]
rs7311465	1.00[CEU][hapmap]
rs7954870	0.82[EUR][1000 genomes]
rs9783418	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs9971859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9971895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:44154200-44189600	Weak transcription	A549	lung
3	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:44154200-44199200	Weak transcription	Gastric	stomach
5	chr12:44154400-44178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:44154400-44181200	Weak transcription	Aorta	Aorta
7	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
9	chr12:44154600-44178000	Weak transcription	Fetal Stomach	stomach
10	chr12:44154600-44178000	Weak transcription	Spleen	Spleen
11	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
13	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:44158200-44182800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:44159000-44177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:44159000-44189000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:44159200-44188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:44159400-44187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:44160600-44182400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:44160600-44183600	Weak transcription	Fetal Heart	heart
21	chr12:44161200-44182400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr12:44161600-44183400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:44161600-44183400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:44161800-44183800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:44162000-44183200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:44162000-44183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:44162200-44180800	Strong transcription	HSMM	muscle
28	chr12:44162200-44181600	Strong transcription	Liver	Liver
29	chr12:44162200-44182200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:44162200-44182200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:44162200-44182600	Strong transcription	Fetal Thymus	thymus
32	chr12:44162200-44182800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:44162200-44182800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:44163000-44182200	Strong transcription	Dnd41	blood
35	chr12:44165200-44180600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:44165400-44178000	Weak transcription	NHLF	lung
37	chr12:44165400-44179800	Strong transcription	Osteobl	bone
38	chr12:44166600-44197200	Weak transcription	Fetal Brain Male	brain
39	chr12:44167600-44181600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:44167600-44182600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:44167600-44189600	Weak transcription	Hela-S3	cervix
42	chr12:44168000-44182600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:44168200-44182400	Strong transcription	Primary T cells from cord blood	blood
44	chr12:44168600-44189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:44169400-44182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:44169400-44189600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:44169400-44189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:44170000-44182400	Strong transcription	GM12878-XiMat	blood
49	chr12:44170200-44180200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:44170200-44183200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links