Variant report

Variant	rs185100239
Chromosome Location	chr12:4715384-4715385
allele	A/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	STAT3	chr12:4715052-4715432	MCF10A-Er-Src	breast:	n/a	chr12:4715240-4715251
2	FOS	chr12:4715061-4715402	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr12:4714973-4715414	MCF10A-Er-Src	breast:	n/a	chr12:4715240-4715251
4	STAT1	chr12:4714908-4715628	Hela-S3	cervix:	n/a	n/a
5	FOS	chr12:4714962-4715408	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr12:4714991-4715401	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr12:4714953-4715627	MCF10A-Er-Src	breast:	n/a	chr12:4715240-4715251

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:

Variant related genes	Relation type
ENSG00000256748	TF binding region
DYRK4	TF binding region
ENSG00000010219	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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4713800-4715400	Active TSS	HMEC	breast
2	chr12:4713800-4715400	Active TSS	NHLF	lung
3	chr12:4714400-4715800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:4714400-4715800	Weak transcription	Gastric	stomach
5	chr12:4714400-4715800	Weak transcription	Pancreas	Pancrea
6	chr12:4714400-4715800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:4714400-4716200	Weak transcription	Stomach Mucosa	stomach
8	chr12:4714400-4716400	Weak transcription	Lung	lung
9	chr12:4714400-4719400	Weak transcription	Spleen	Spleen
10	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:4714600-4715400	Flanking Active TSS	HUVEC	blood vessel
14	chr12:4714600-4715800	Weak transcription	Left Ventricle	heart
15	chr12:4714600-4716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:4714600-4716200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:4714600-4716200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:4714600-4718400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:4714600-4718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:4714600-4719200	Weak transcription	Aorta	Aorta
21	chr12:4714600-4719200	Weak transcription	Placenta	Placenta
22	chr12:4714600-4719800	Weak transcription	Psoas Muscle	Psoas
23	chr12:4714600-4721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:4714600-4721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:4714600-4721800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:4714600-4721800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
31	chr12:4714800-4715600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:4714800-4715600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:4714800-4715800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:4714800-4715800	Weak transcription	Fetal Lung	lung
35	chr12:4714800-4716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:4714800-4716200	Enhancers	Brain Anterior Caudate	brain
37	chr12:4714800-4716400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:4714800-4716400	Enhancers	Brain Substantia Nigra	brain
39	chr12:4714800-4716400	Enhancers	Fetal Intestine Large	intestine
40	chr12:4714800-4716600	Enhancers	Fetal Intestine Small	intestine
41	chr12:4714800-4716600	Weak transcription	Right Atrium	heart
42	chr12:4714800-4718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:4714800-4719200	Weak transcription	Fetal Thymus	thymus
44	chr12:4714800-4719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:4714800-4719400	Weak transcription	Adipose Nuclei	Adipose
46	chr12:4714800-4719400	Weak transcription	Colonic Mucosa	Colon
47	chr12:4714800-4720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:4714800-4721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:4714800-4721600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:4714800-4721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links