Variant report

Variant	rs73955185
Chromosome Location	chr2:114012047-114012048
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:114012014-114013933	HEK293-T-REx	kidney:	n/a	chr2:114012624-114012645 chr2:114012655-114012676 chr2:114013349-114013358
2	POLR2A	chr2:114011940-114012530	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
PAX8-AS1	TF binding region

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

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

rs_ID	r²[population]
rs11884791	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11886472	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11886592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903972	0.85[ASN][1000 genomes]
rs17043146	0.85[ASN][1000 genomes]
rs17043176	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73955186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955192	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999000-114014800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:113999200-114013200	Weak transcription	Placenta	Placenta
4	chr2:113999600-114013200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113999600-114016400	Weak transcription	Fetal Stomach	stomach
6	chr2:113999600-114028400	Weak transcription	Ovary	ovary
7	chr2:114002400-114015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:114006600-114012200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:114006600-114016200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:114006600-114016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:114006800-114015800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:114007200-114014800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:114008000-114013200	Weak transcription	HSMMtube	muscle
15	chr2:114008400-114012600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:114008400-114012800	Enhancers	Fetal Thymus	thymus
17	chr2:114008400-114016000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:114008600-114012400	Weak transcription	A549	lung
19	chr2:114008800-114013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:114009000-114013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:114009000-114013000	Weak transcription	NH-A	brain
22	chr2:114009000-114013800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:114009000-114015000	Weak transcription	K562	blood
24	chr2:114009000-114015400	Weak transcription	Left Ventricle	heart
25	chr2:114009200-114014400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:114009200-114015400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:114009800-114014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:114010000-114013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:114010000-114016200	Enhancers	Primary T cells from cord blood	blood
31	chr2:114010000-114016200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:114010200-114013000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:114010200-114013000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:114010200-114013000	Weak transcription	Lung	lung
35	chr2:114010200-114013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:114010200-114014800	Weak transcription	Adipose Nuclei	Adipose
37	chr2:114010200-114014800	Weak transcription	Fetal Heart	heart
38	chr2:114010200-114014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:114010200-114015000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:114010200-114015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:114010200-114015800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
43	chr2:114010400-114012200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:114010400-114012200	Enhancers	NHEK	skin
45	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:114010600-114012200	Strong transcription	Fetal Kidney	kidney
47	chr2:114010600-114012400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:114010600-114013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:114010600-114014000	Enhancers	HMEC	breast
50	chr2:114011200-114013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links