Variant report

Variant	rs13396775
Chromosome Location	chr2:30462166-30462167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30461744..30464187-chr2:30883042..30884616,2	K562	blood:
2	chr2:30460198..30462584-chr2:30837486..30839510,2	K562	blood:
3	chr2:30461724..30463774-chr2:30668887..30671326,2	MCF-7	breast:
4	chr2:30460136..30462980-chr2:30484445..30486179,2	K562	blood:
5	chr2:30459999..30464804-chr2:30474137..30477672,6	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13403566	1.00[AMR][1000 genomes]
rs13409211	1.00[AMR][1000 genomes]
rs13415246	1.00[AMR][1000 genomes]
rs13418110	1.00[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30455200-30463400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30456000-30464800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:30456400-30464200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr2:30456600-30463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:30456800-30462800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:30457000-30463800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
7	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:30457200-30463600	Genic enhancers	Spleen	Spleen
9	chr2:30457200-30470400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:30457400-30462200	Genic enhancers	Left Ventricle	heart
12	chr2:30457400-30463000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
13	chr2:30457400-30463600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:30457400-30466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:30457600-30462800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr2:30457600-30463000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:30457600-30463000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:30457600-30464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:30457600-30471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:30457800-30462600	Weak transcription	Pancreas	Pancrea
21	chr2:30457800-30462800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
22	chr2:30457800-30467400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:30457800-30481000	Weak transcription	Gastric	stomach
24	chr2:30458000-30462600	Weak transcription	Small Intestine	intestine
25	chr2:30458000-30462600	Genic enhancers	NHDF-Ad	bronchial
26	chr2:30458000-30463800	Genic enhancers	Fetal Lung	lung
27	chr2:30458000-30464600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:30458200-30462200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30458200-30463400	Genic enhancers	HSMM	muscle
30	chr2:30458400-30462400	ZNF genes & repeats	GM12878-XiMat	blood
31	chr2:30458400-30462600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:30458400-30464800	Genic enhancers	Primary B cells from cord blood	blood
33	chr2:30458400-30475800	Weak transcription	Fetal Kidney	kidney
34	chr2:30458600-30464800	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr2:30458800-30464200	Genic enhancers	Fetal Thymus	thymus
36	chr2:30459200-30462200	Strong transcription	Fetal Intestine Small	intestine
37	chr2:30459800-30463600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:30460000-30462400	Strong transcription	Fetal Brain Female	brain
39	chr2:30460000-30463000	Genic enhancers	Thymus	Thymus
40	chr2:30460000-30463600	Genic enhancers	Aorta	Aorta
41	chr2:30460200-30463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:30460600-30462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:30460800-30462600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:30460800-30464800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:30460800-30471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:30461000-30479800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:30461200-30462200	Genic enhancers	Right Ventricle	heart
48	chr2:30461200-30462600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:30461200-30462800	Weak transcription	Colonic Mucosa	Colon
50	chr2:30461200-30464200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links