Variant report

Variant	rs73303808
Chromosome Location	chr12:31805832-31805833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31805785..31807863-chr12:32259394..32260915,2	MCF-7	breast:
2	chr12:31804590..31806513-chr12:31889274..31891655,2	K562	blood:

Variant related genes	Relation type
ENSG00000151746	Chromatin interaction
ENSG00000257530	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56257104	1.00[AMR][1000 genomes]
rs57688887	1.00[AMR][1000 genomes]
rs73303820	1.00[AMR][1000 genomes]
rs73303823	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31799200-31811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:31800200-31811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31800400-31811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:31803800-31806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:31803800-31806400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:31803800-31806400	Active TSS	NHDF-Ad	bronchial
7	chr12:31803800-31806600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:31804000-31806000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:31804000-31806400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:31804000-31808600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:31804000-31811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:31804000-31811600	Weak transcription	Lung	lung
13	chr12:31804200-31806000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:31804200-31806000	Weak transcription	Fetal Kidney	kidney
15	chr12:31804200-31806000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31804200-31806000	Weak transcription	Right Atrium	heart
17	chr12:31804200-31806000	Weak transcription	Stomach Mucosa	stomach
18	chr12:31804200-31806000	Weak transcription	HUVEC	blood vessel
19	chr12:31804400-31806000	Enhancers	Hela-S3	cervix
20	chr12:31804600-31807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:31805000-31806400	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:31805000-31808600	Weak transcription	Pancreas	Pancrea
23	chr12:31805200-31806200	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:31805200-31806200	Weak transcription	Placenta	Placenta
25	chr12:31805400-31806000	Enhancers	GM12878-XiMat	blood
26	chr12:31805400-31806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:31805400-31806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:31805400-31808200	Weak transcription	K562	blood
29	chr12:31805600-31806000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:31805600-31806000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:31805600-31806000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:31805600-31806000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:31805600-31806000	Enhancers	A549	lung
34	chr12:31805600-31806000	Enhancers	HMEC	breast
35	chr12:31805600-31806200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr12:31805600-31806600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:31805600-31806600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr12:31805600-31806600	Enhancers	Fetal Intestine Small	intestine
39	chr12:31805600-31806600	Enhancers	NHLF	lung
40	chr12:31805600-31806800	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:31805600-31806800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:31805600-31806800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:31805600-31806800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:31805600-31807000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:31805800-31806000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:31805800-31806000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:31805800-31806000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:31805800-31806000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:31805800-31806200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr12:31805800-31806200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links