Variant report

Variant	rs35478056
Chromosome Location	chr1:217313698-217313699
allele	A/C
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	E2F6	chr1:217313419-217314167	H1-hESC	embryonic stem cell:	n/a	chr1:217313597-217313609 chr1:217313559-217313568
2	E2F6	chr1:217313356-217314138	H1-hESC	embryonic stem cell:	n/a	chr1:217313597-217313609 chr1:217313559-217313568
3	BACH1	chr1:217313691-217313896	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:217313378-217314255	H1-hESC	embryonic stem cell:	n/a	chr1:217313746-217313756
5	SIN3A	chr1:217313444-217313875	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr1:217313397-217313939	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:217313374-217313835	H1-hESC	embryonic stem cell:	n/a	chr1:217313746-217313756
8	POLR2A	chr1:217313335-217313858	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr1:217313217-217313787	H1-neurons	neurons:	n/a	n/a
10	MYC	chr1:217313247-217313714	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:217313602-217313766	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr1:217313345-217313791	H1-hESC	embryonic stem cell:	n/a	chr1:217313746-217313756
13	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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495041	0.92[AMR][1000 genomes]
rs11576172	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11576806	0.88[AMR][1000 genomes]
rs11579927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586921	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12739810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12749238	1.00[ASN][1000 genomes]
rs12751962	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1502356	0.88[AMR][1000 genomes]
rs17695327	0.81[AMR][1000 genomes]
rs35579427	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35685026	0.92[AMR][1000 genomes]
rs35778506	0.92[AMR][1000 genomes]
rs35963574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71643444	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs71643445	1.00[AFR][1000 genomes];1.00[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:44 , 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	chr1:217312400-217313800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:217312400-217314000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:217312600-217313800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:217312600-217313800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:217312600-217314200	Bivalent Enhancer	Placenta	Placenta
10	chr1:217312800-217314200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:217312800-217314200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr1:217312800-217314400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:217313000-217313800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:217313000-217313800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:217313000-217313800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:217313000-217313800	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr1:217313000-217314200	Active TSS	Right Atrium	heart
18	chr1:217313000-217314400	Active TSS	Right Ventricle	heart
19	chr1:217313200-217313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:217313200-217313800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:217313200-217313800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr1:217313200-217314200	Active TSS	Left Ventricle	heart
23	chr1:217313400-217313800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:217313400-217314000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr1:217313400-217314200	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr1:217313400-217314400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr1:217313600-217313800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:217313600-217313800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:217313600-217313800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:217313600-217313800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:217313600-217313800	Bivalent Enhancer	Brain Hippocampus Middle	brain
32	chr1:217313600-217313800	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr1:217313600-217314000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:217313600-217314000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:217313600-217314000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr1:217313600-217314000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:217313600-217314000	Bivalent Enhancer	Brain Germinal Matrix	brain
38	chr1:217313600-217314000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:217313600-217314000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr1:217313600-217314000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:217313600-217314200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:217313600-217314400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:217313600-217314600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr1:217313600-217314600	Flanking Active TSS	Fetal Heart	heart

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