Variant report

Variant	rs11838348
Chromosome Location	chr12:48741991-48741992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48740296..48746434-chr12:48748194..48754526,9	MCF-7	breast:
2	chr12:48740907..48742946-chr12:48743021..48744777,2	K562	blood:
3	chr12:48741301..48746348-chr12:48747901..48753728,9	MCF-7	breast:
4	chr12:48727374..48736715-chr12:48738720..48747602,13	K562	blood:
5	chr12:48712249..48713811-chr12:48741088..48742691,2	K562	blood:
6	chr12:48729486..48731368-chr12:48741575..48744157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257763	Chromatin interaction
ENSG00000258273	Chromatin interaction
ENSG00000167528	Chromatin interaction
ENSG00000257735	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11168575	1.00[EUR][1000 genomes]
rs11831402	1.00[EUR][1000 genomes]
rs11833476	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11834568	1.00[EUR][1000 genomes]
rs11837276	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7315543	1.00[EUR][1000 genomes]
rs74087200	1.00[EUR][1000 genomes]
rs7966005	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1045159	chr12:48730024-48748940	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48729200-48743400	Weak transcription	Stomach Mucosa	stomach
2	chr12:48731200-48743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48732400-48742600	Strong transcription	Left Ventricle	heart
4	chr12:48732600-48742600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:48733200-48742000	Strong transcription	Brain Hippocampus Middle	brain
6	chr12:48733200-48742200	Strong transcription	Fetal Thymus	thymus
7	chr12:48733600-48742000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:48733600-48742200	Strong transcription	Primary B cells from cord blood	blood
9	chr12:48733600-48743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:48733800-48742000	Strong transcription	Liver	Liver
11	chr12:48733800-48742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:48733800-48742800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:48734000-48742000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:48734000-48742200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:48734000-48742600	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:48734200-48742000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:48734600-48742000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr12:48735000-48743000	Weak transcription	Fetal Heart	heart
19	chr12:48735200-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48735400-48742000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:48735400-48742000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:48735400-48742200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:48735400-48742600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:48735400-48743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:48735600-48742000	Strong transcription	Brain Germinal Matrix	brain
26	chr12:48735600-48742000	Strong transcription	Fetal Intestine Large	intestine
27	chr12:48735600-48742000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:48735800-48742000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:48735800-48742200	Strong transcription	Brain Anterior Caudate	brain
30	chr12:48735800-48742400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:48736000-48742000	Strong transcription	Colon Smooth Muscle	Colon
32	chr12:48736000-48742000	Strong transcription	Placenta	Placenta
33	chr12:48736000-48742000	Strong transcription	Fetal Stomach	stomach
34	chr12:48736000-48742000	Strong transcription	Spleen	Spleen
35	chr12:48736200-48742000	Strong transcription	Primary T cells from cord blood	blood
36	chr12:48736200-48742000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:48736200-48742000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:48736200-48742000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:48736400-48742000	Strong transcription	Aorta	Aorta
40	chr12:48736400-48742000	Strong transcription	Lung	lung
41	chr12:48736400-48742400	Strong transcription	HMEC	breast
42	chr12:48736600-48742000	Strong transcription	Fetal Intestine Small	intestine
43	chr12:48736600-48742000	Strong transcription	Ovary	ovary
44	chr12:48736600-48742000	Strong transcription	Pancreas	Pancrea
45	chr12:48736600-48742000	Strong transcription	Right Ventricle	heart
46	chr12:48736600-48742200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:48736800-48742400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:48737200-48742000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:48737200-48742000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:48737400-48743400	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links