Variant report

Variant	rs4734680
Chromosome Location	chr8:103942023-103942024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr8:103942011-103942395	H1-hESC	embryonic stem cell:	n/a	n/a
2	SPI1	chr8:103941854-103943092	GM12878	blood:	n/a	n/a
3	SP1	chr8:103941918-103942441	H1-hESC	embryonic stem cell:	n/a	chr8:103942188-103942199
4	EP300	chr8:103941806-103942553	GM12878	blood:	n/a	n/a
5	IKZF1	chr8:103941889-103942752	GM12878	blood:	n/a	n/a
6	MAZ	chr8:103941876-103942570	GM12878	blood:	n/a	n/a
7	TCF12	chr8:103941948-103942676	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr8:103941990-103942759	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr8:103941915-103942522	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr8:103941830-103942653	GM12878	blood:	n/a	n/a
11	MTA3	chr8:103941932-103942842	GM12878	blood:	n/a	n/a
12	SP1	chr8:103941929-103942515	H1-hESC	embryonic stem cell:	n/a	chr8:103942188-103942199
13	ZEB1	chr8:103941959-103942774	GM12878	blood:	n/a	chr8:103942339-103942348

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103941652..103943631-chr8:103947233..103949355,2	K562	blood:
2	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:
3	chr8:103939891..103942069-chr8:103943605..103945175,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103941606-103942746	NONHSAT128133

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505040	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12546479	1.00[CHB][hapmap]
rs12546960	1.00[CHB][hapmap]
rs12547652	1.00[CHB][hapmap]
rs12548745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197736	1.00[CHB][hapmap]
rs17198079	1.00[CHB][hapmap]
rs17775390	1.00[CHB][hapmap]
rs4734066	1.00[CHB][hapmap]
rs4734674	1.00[CHB][hapmap]
rs62526535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526538	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62526539	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6468846	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6998032	0.93[AMR][1000 genomes];0.85[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv512057	chr8:103939859-103942374	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:103938200-103942200	Weak transcription	Fetal Lung	lung
5	chr8:103938200-103942200	Weak transcription	Hela-S3	cervix
6	chr8:103938200-103943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
8	chr8:103940200-103943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:103940200-103972600	Weak transcription	Ovary	ovary
10	chr8:103940400-103942200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:103941600-103942200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:103941600-103942200	Enhancers	Pancreas	Pancrea
13	chr8:103941600-103942200	Flanking Active TSS	A549	lung
14	chr8:103941600-103942400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:103941600-103942400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:103941600-103942400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:103941600-103942400	Flanking Active TSS	Liver	Liver
18	chr8:103941600-103942400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:103941600-103942400	Flanking Active TSS	HepG2	liver
20	chr8:103941600-103942600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:103941600-103942600	Enhancers	Placenta	Placenta
22	chr8:103941600-103942600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:103941600-103942600	Enhancers	K562	blood
24	chr8:103941600-103942800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:103941600-103942800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:103941600-103942800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr8:103941600-103942800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:103941600-103942800	Enhancers	Fetal Thymus	thymus
29	chr8:103941600-103942800	Enhancers	Stomach Mucosa	stomach
30	chr8:103941600-103943000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:103941600-103943000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:103941600-103943400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:103941600-103943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:103941800-103942200	Active TSS	Duodenum Mucosa	Duodenum
35	chr8:103941800-103942600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:103941800-103942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:103941800-103942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:103941800-103942600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:103941800-103942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:103941800-103942800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr8:103941800-103942800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:103941800-103943200	Flanking Active TSS	GM12878-XiMat	blood
43	chr8:103941800-103944000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:103941800-103944400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:103942000-103942200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:103942000-103942200	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:103942000-103942200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr8:103942000-103942400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:103942000-103942400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:103942000-103942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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