Variant report

Variant	rs76312021
Chromosome Location	chr12:117415084-117415085
allele	C/T
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	POLR2A	chr12:117415080-117415089	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117413641..117415304-chr12:117416885..117418716,2	K562	blood:
2	chr12:117409582..117412431-chr12:117414257..117415870,2	MCF-7	breast:
3	chr12:117413642..117415380-chr12:117415529..117417173,2	MCF-7	breast:

Variant related genes	Relation type
FBXW8	TF binding region
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:117387800-117463600	Weak transcription	HMEC	breast
4	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
5	chr12:117394600-117415400	Weak transcription	HSMMtube	muscle
6	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
7	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
8	chr12:117398200-117417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:117400400-117417800	Weak transcription	K562	blood
10	chr12:117400800-117415400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117402200-117417200	Weak transcription	Stomach Mucosa	stomach
12	chr12:117403400-117416800	Weak transcription	HUVEC	blood vessel
13	chr12:117403400-117418000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:117403400-117423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:117403600-117420400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:117404600-117427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:117404600-117442400	Weak transcription	HepG2	liver
18	chr12:117404800-117426400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:117405400-117418000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:117405600-117420400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:117408000-117420200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:117408000-117427600	Weak transcription	Dnd41	blood
24	chr12:117408200-117417400	Weak transcription	Gastric	stomach
25	chr12:117408200-117424800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:117408200-117426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:117408200-117427000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:117408200-117429600	Weak transcription	Brain Substantia Nigra	brain
29	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:117408400-117420200	Weak transcription	Fetal Brain Male	brain
31	chr12:117408400-117420400	Weak transcription	Fetal Lung	lung
32	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
34	chr12:117408600-117415400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:117408600-117416400	Weak transcription	Brain Germinal Matrix	brain
36	chr12:117408600-117420800	Weak transcription	Fetal Heart	heart
37	chr12:117408600-117422400	Weak transcription	Fetal Intestine Small	intestine
38	chr12:117408800-117415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:117409000-117427200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:117409800-117415200	Weak transcription	GM12878-XiMat	blood
41	chr12:117410800-117416200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:117411000-117424400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117411200-117423200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:117411200-117423200	Weak transcription	Adipose Nuclei	Adipose
45	chr12:117411600-117415200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:117411600-117415400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:117411600-117415400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:117411600-117417000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:117411600-117420800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:117411600-117423000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links