Variant report

Variant	rs9578111
Chromosome Location	chr13:30170435-30170436
allele	G/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	chr13:30168329-30170450	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr13:30169783-30170444	GM12878	blood:	n/a	chr13:30169961-30169973 chr13:30169936-30169945
3	MXI1	chr13:30168168-30170547	SK-N-SH	brain:	n/a	n/a
4	HA-E2F1	chr13:30168415-30170513	MCF-7	breast:	n/a	chr13:30169800-30169810 chr13:30169560-30169570 chr13:30169940-30169950 chr13:30169176-30169185 chr13:30168910-30168920 chr13:30170007-30170018 chr13:30169562-30169571 chr13:30169557-30169567 chr13:30169937-30169947
5	MAX	chr13:30168214-30170456	A549	lung:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
6	REST	chr13:30168720-30170579	H1-neurons	neurons:	n/a	chr13:30170163-30170173 chr13:30169088-30169101 chr13:30169390-30169404 chr13:30169514-30169522 chr13:30169226-30169239
7	POLR2A	chr13:30166300-30171109	IMR90	lung:	n/a	n/a
8	MAZ	chr13:30168168-30170515	IMR90	lung:	n/a	chr13:30169989-30169999 chr13:30169811-30169820 chr13:30169717-30169726 chr13:30169287-30169296
9	CHD1	chr13:30167920-30170849	IMR90	lung:	n/a	chr13:30169129-30169139 chr13:30169090-30169100
10	TCF12	chr13:30169897-30170436	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
2	chr13:30168902..30170623-chr13:47369921..47372567,2	MCF-7	breast:
3	chr13:30170246..30170891-chr4:53525300..53526271,2	MCF-7	breast:
4	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:

Variant related genes	Relation type
SLC7A1	TF binding region
ENSG00000248866	Chromatin interaction
ENSG00000139514	Chromatin interaction
ENSG00000132938	Chromatin interaction
ENSG00000139684	Chromatin interaction
ENSG00000109189	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1553951	0.90[EUR][1000 genomes]
rs2036975	0.90[EUR][1000 genomes]
rs35332203	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490414	0.90[EUR][1000 genomes]
rs8000157	0.90[EUR][1000 genomes]
rs9578113	0.90[EUR][1000 genomes]
rs9579421	0.88[EUR][1000 genomes]
rs9579422	0.90[EUR][1000 genomes]
rs9579423	0.90[EUR][1000 genomes]

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	esv3420380	chr13:30168177-30170725	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3359253	chr13:30168577-30171125	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3445424	chr13:30169002-30170950	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
6	chr13:30168400-30170600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:30168400-30170600	Active TSS	Brain Anterior Caudate	brain
8	chr13:30168400-30170800	Active TSS	Colonic Mucosa	Colon
9	chr13:30168600-30170600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr13:30168800-30170600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:30168800-30170600	Active TSS	Primary T cells from cord blood	blood
12	chr13:30168800-30170600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:30168800-30170800	Active TSS	Duodenum Mucosa	Duodenum
14	chr13:30169000-30170600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:30169000-30170600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:30169000-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:30170000-30170600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr13:30170000-30170600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr13:30170000-30170600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr13:30170000-30170600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr13:30170000-30170600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr13:30170000-30170600	Flanking Active TSS	HUVEC	blood vessel
23	chr13:30170000-30170800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr13:30170000-30170800	Enhancers	Small Intestine	intestine
25	chr13:30170000-30170800	Flanking Active TSS	NH-A	brain
26	chr13:30170000-30171000	Flanking Active TSS	Dnd41	blood
27	chr13:30170200-30170600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr13:30170200-30170600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr13:30170200-30170600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr13:30170200-30170600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:30170200-30170600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:30170200-30170600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:30170200-30170600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:30170200-30170600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:30170200-30170600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr13:30170200-30170600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr13:30170200-30170600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr13:30170200-30170600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr13:30170200-30170600	Enhancers	Lung	lung
40	chr13:30170200-30170600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr13:30170200-30170600	Enhancers	Stomach Mucosa	stomach
42	chr13:30170200-30170600	Enhancers	Spleen	Spleen
43	chr13:30170200-30170600	Flanking Active TSS	GM12878-XiMat	blood
44	chr13:30170200-30170600	Flanking Active TSS	NHEK	skin
45	chr13:30170200-30170800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:30170200-30170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:30170200-30170800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr13:30170200-30170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:30170400-30170600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr13:30170400-30170600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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