Variant report

Variant	rs4941625
Chromosome Location	chr13:48668267-48668268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
2	chr13:48611722..48613362-chr13:48667186..48669052,2	K562	blood:
3	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
4	chr13:48651976..48654376-chr13:48667767..48670618,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136156	Chromatin interaction
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12428259	1.00[CEU][hapmap]
rs12429137	1.00[CEU][hapmap]
rs12431098	1.00[CEU][hapmap]
rs1359615	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17071331	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1886445	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4941626	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942745	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57898553	0.82[AMR][1000 genomes]
rs7321707	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7991049	1.00[CEU][hapmap]
rs7992167	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7999360	1.00[CEU][hapmap]
rs9567997	0.81[ASN][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48666600-48668400	Enhancers	Spleen	Spleen
2	chr13:48666800-48668400	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:48666800-48668400	Enhancers	Pancreas	Pancrea
4	chr13:48666800-48668600	Flanking Active TSS	Dnd41	blood
5	chr13:48666800-48669400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr13:48667000-48668400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:48667000-48668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:48667000-48669400	Active TSS	K562	blood
9	chr13:48667200-48668600	Flanking Active TSS	Hela-S3	cervix
10	chr13:48667400-48668600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr13:48667600-48668400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:48667600-48668400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:48667600-48668400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:48667600-48668400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:48667600-48668400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:48667600-48668400	Flanking Active TSS	Fetal Brain Female	brain
17	chr13:48667600-48668600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:48667600-48668600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:48667600-48668600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr13:48667600-48668600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr13:48667600-48668600	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr13:48667600-48668600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr13:48667600-48668600	Flanking Active TSS	HMEC	breast
24	chr13:48667600-48668600	Flanking Active TSS	NH-A	brain
25	chr13:48667600-48668600	Flanking Active TSS	Osteobl	bone
26	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:48667600-48668800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr13:48667600-48668800	Flanking Active TSS	Fetal Thymus	thymus
31	chr13:48667600-48668800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr13:48667600-48669400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr13:48667600-48669600	Active TSS	A549	lung
34	chr13:48667600-48670000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr13:48667800-48668400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:48667800-48668400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr13:48667800-48668400	Weak transcription	Esophagus	oesophagus
38	chr13:48667800-48668400	Weak transcription	Gastric	stomach
39	chr13:48667800-48668400	Enhancers	Stomach Mucosa	stomach
40	chr13:48667800-48668600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr13:48667800-48668600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:48667800-48668600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr13:48667800-48668600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr13:48667800-48668600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:48667800-48668600	Flanking Active TSS	HUVEC	blood vessel
46	chr13:48667800-48668600	Flanking Active TSS	NHEK	skin
47	chr13:48667800-48668800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:48667800-48668800	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr13:48667800-48668800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr13:48667800-48668800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links