Variant report

Variant	rs1397528
Chromosome Location	chr4:144319745-144319746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144318802..144321618-chr4:144327773..144329836,3	MCF-7	breast:
2	chr4:144319058..144322958-chr4:144324653..144327477,4	K562	blood:
3	chr4:144308580..144312274-chr4:144317112..144320354,4	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10013047	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1027851	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1027852	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10519691	0.82[CEU][hapmap];0.82[CHB][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs11100786	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11100787	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11100788	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs11730569	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945731	0.83[ASN][1000 genomes]
rs12647531	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12649592	0.84[ASN][1000 genomes]
rs13101346	0.82[ASN][1000 genomes]
rs13123498	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1472873	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1510879	0.83[ASN][1000 genomes]
rs1510880	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1866756	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048408	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2055730	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119270	0.84[ASN][1000 genomes]
rs2196908	0.82[ASN][1000 genomes]
rs2196909	0.82[ASN][1000 genomes]
rs300894	0.85[YRI][hapmap]
rs300911	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs300912	0.89[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap]
rs300913	0.89[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.86[LWK][hapmap];0.85[YRI][hapmap]
rs300914	0.82[YRI][hapmap]
rs300915	0.89[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.86[LWK][hapmap];0.85[YRI][hapmap]
rs300916	0.89[CHB][hapmap]
rs300917	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs34095331	0.80[ASN][1000 genomes]
rs34439737	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792652	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792653	0.84[ASN][1000 genomes]
rs3792655	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805238	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3805245	0.84[ASN][1000 genomes]
rs3805246	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805247	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805249	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805251	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805252	0.84[ASN][1000 genomes]
rs3805253	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805254	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805256	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs3805257	0.86[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3828512	1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3828513	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3828514	0.84[ASN][1000 genomes]
rs55758499	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55894236	0.87[ASN][1000 genomes]
rs6537154	0.83[ASN][1000 genomes]
rs6537155	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs713140	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs719392	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7680959	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs906571	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1397528	ABCE1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144303400-144326600	Weak transcription	Colonic Mucosa	Colon
2	chr4:144304200-144320000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:144307400-144323600	Enhancers	Brain Hippocampus Middle	brain
4	chr4:144309200-144327600	Weak transcription	Esophagus	oesophagus
5	chr4:144310200-144325600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:144311200-144320400	Weak transcription	Stomach Mucosa	stomach
7	chr4:144311400-144320000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:144311600-144321600	Enhancers	Brain Angular Gyrus	brain
9	chr4:144312200-144321000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:144312400-144323600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:144312600-144323800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:144312600-144326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:144312600-144328600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:144312800-144324000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:144312800-144331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:144312800-144336800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:144313000-144320200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:144313000-144323800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:144313200-144320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:144313400-144320400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:144313400-144323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:144313400-144323400	Weak transcription	Fetal Brain Female	brain
23	chr4:144313400-144323600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:144313400-144324000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:144313800-144320400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:144313800-144323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:144313800-144323600	Weak transcription	Liver	Liver
28	chr4:144313800-144332000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:144314400-144321400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:144314600-144321800	Enhancers	Fetal Heart	heart
31	chr4:144314600-144323400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:144315600-144323600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:144316200-144323400	Weak transcription	Adipose Nuclei	Adipose
34	chr4:144316200-144323600	Weak transcription	Small Intestine	intestine
35	chr4:144316800-144324400	Enhancers	Brain Substantia Nigra	brain
36	chr4:144317000-144320000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:144317400-144320800	Enhancers	NHLF	lung
38	chr4:144317400-144321200	Weak transcription	Pancreas	Pancrea
39	chr4:144317400-144323600	Weak transcription	Primary B cells from cord blood	blood
40	chr4:144317400-144323800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:144317400-144327600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:144317600-144323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:144317800-144325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:144318000-144320200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr4:144318200-144319800	Enhancers	Fetal Stomach	stomach
46	chr4:144318200-144321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:144318200-144321200	Weak transcription	Left Ventricle	heart
48	chr4:144318200-144321200	Weak transcription	Right Ventricle	heart
49	chr4:144318200-144325600	Weak transcription	Lung	lung
50	chr4:144318200-144327600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links