Variant report

Variant	rs2603102
Chromosome Location	chr12:50195149-50195150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50195060-50195414	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50184479..50186991-chr12:50194660..50197233,2	K562	blood:
2	chr12:50185305..50186991-chr12:50194287..50197233,2	K562	blood:
3	chr12:50190487..50192321-chr12:50194210..50195779,2	MCF-7	breast:
4	chr12:50194301..50195990-chr12:50198569..50200807,2	K562	blood:
5	chr12:50170539..50173499-chr12:50194309..50196084,2	MCF-7	breast:
6	chr12:50193481..50196503-chr12:50223666..50226555,3	MCF-7	breast:

No data

Variant related genes	Relation type
NCKAP5L	TF binding region
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2603103	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2603115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2603117	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2720299	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4439592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4473012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs695061	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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50174400-50209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50177800-50203400	Weak transcription	Fetal Kidney	kidney
3	chr12:50179200-50213600	Weak transcription	Hela-S3	cervix
4	chr12:50179600-50195200	Weak transcription	Fetal Brain Male	brain
5	chr12:50183200-50197600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:50183200-50200600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:50183200-50201400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:50183200-50203400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:50183400-50197600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:50183400-50200000	Strong transcription	Brain Hippocampus Middle	brain
11	chr12:50183400-50200000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr12:50183400-50200200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:50183400-50200200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:50183400-50200600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:50183400-50200600	Strong transcription	Fetal Brain Female	brain
16	chr12:50183400-50202200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:50183400-50202200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:50183400-50202600	Strong transcription	NHLF	lung
19	chr12:50183800-50199800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:50184400-50200000	Strong transcription	Lung	lung
21	chr12:50184400-50200000	Strong transcription	Spleen	Spleen
22	chr12:50184400-50200200	Strong transcription	Brain Germinal Matrix	brain
23	chr12:50184400-50203200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:50184600-50199800	Strong transcription	Brain Anterior Caudate	brain
25	chr12:50184800-50199800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:50185000-50202400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:50185200-50196400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:50185200-50200000	Strong transcription	Gastric	stomach
29	chr12:50185200-50200200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:50185200-50200200	Strong transcription	Fetal Thymus	thymus
31	chr12:50185200-50200400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:50185600-50201200	Strong transcription	Fetal Stomach	stomach
33	chr12:50185800-50199800	Strong transcription	Placenta	Placenta
34	chr12:50185800-50200400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:50186200-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:50187000-50199800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:50187200-50203000	Strong transcription	Primary T cells from cord blood	blood
38	chr12:50187200-50214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:50188400-50200000	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr12:50188800-50196800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:50188800-50199800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:50188800-50200200	Strong transcription	Thymus	Thymus
43	chr12:50189000-50196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:50189000-50200000	Strong transcription	NHEK	skin
45	chr12:50189200-50199600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:50189200-50214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:50189400-50200000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:50189800-50199600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:50189800-50200000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:50190000-50197600	Strong transcription	Ovary	ovary

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