Variant report

Variant	rs12758982
Chromosome Location	chr1:217313112-217313113
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	POLR2A	chr1:217311387-217313261	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr1:217312969-217313169	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr1:217313044-217313211	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr1:217307066-217313271	NT2-D1	testis:	n/a	n/a
5	CTBP2	chr1:217312986-217314261	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:217308030..217310144-chr1:217311163..217313790,2	MCF-7	breast:
2	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:

Variant related genes	Relation type
ESRRG	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10735492	0.85[ASN][1000 genomes]
rs10779289	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11117777	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11591042	0.90[ASN][1000 genomes]
rs12094589	0.81[ASN][1000 genomes]
rs1354220	0.85[ASN][1000 genomes]
rs1502341	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1502359	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1553346	0.86[ASN][1000 genomes]
rs1553349	0.90[ASN][1000 genomes]
rs7514342	0.85[ASN][1000 genomes]
rs924654	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	esv3363004	chr1:217312379-217314377	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217307200-217314200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:217307200-217314200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:217307400-217314200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:217309800-217313800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr1:217311400-217313200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr1:217311800-217313200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr1:217312000-217313200	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr1:217312000-217313400	Bivalent Enhancer	Fetal Lung	lung
9	chr1:217312000-217313600	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr1:217312400-217313600	Enhancers	Fetal Heart	heart
11	chr1:217312400-217313800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:217312400-217314000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:217312600-217313600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr1:217312600-217313800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:217312600-217313800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:217312600-217314200	Bivalent Enhancer	Placenta	Placenta
17	chr1:217312800-217313200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:217312800-217313200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:217312800-217313200	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr1:217312800-217313200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:217312800-217313200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:217312800-217313200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr1:217312800-217313200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr1:217312800-217313200	Weak transcription	Pancreas	Pancrea
25	chr1:217312800-217313600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:217312800-217313600	Active TSS	Brain Anterior Caudate	brain
27	chr1:217312800-217313600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr1:217312800-217314200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:217312800-217314200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr1:217312800-217314400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:217313000-217313200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:217313000-217313200	Bivalent Enhancer	Esophagus	oesophagus
33	chr1:217313000-217313200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr1:217313000-217313200	Bivalent Enhancer	Fetal Thymus	thymus
35	chr1:217313000-217313200	Bivalent Enhancer	Small Intestine	intestine
36	chr1:217313000-217313400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr1:217313000-217313400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:217313000-217313400	Bivalent/Poised TSS	NH-A	brain
39	chr1:217313000-217313600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:217313000-217313600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:217313000-217313600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:217313000-217313800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:217313000-217313800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:217313000-217313800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:217313000-217313800	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr1:217313000-217314200	Active TSS	Right Atrium	heart
47	chr1:217313000-217314400	Active TSS	Right Ventricle	heart

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