Variant report

Variant	rs4735522
Chromosome Location	chr8:99059268-99059269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99059038-99059547	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:99054646-99059519	SK-N-MC	brain:	n/a	n/a
3	JUND	chr8:99057247-99059316	MCF-7	breast:	n/a	chr8:99058484-99058494 chr8:99058484-99058494

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99054385..99060040-chr8:99125093..99131908,20	MCF-7	breast:
2	chr8:98879599..98882619-chr8:99058852..99062253,4	MCF-7	breast:
3	chr8:98656009..98658499-chr8:99057409..99059369,2	MCF-7	breast:
4	chr8:98787259..98790021-chr8:99056219..99059277,4	MCF-7	breast:
5	chr8:99054555..99060747-chr8:99127722..99132697,23	MCF-7	breast:
6	chr7:105750764..105753718-chr8:99056330..99059303,2	MCF-7	breast:
7	chr8:98880073..98882344-chr8:99058008..99060041,2	MCF-7	breast:
8	chr8:99056304..99059597-chr8:99060333..99064411,5	K562	blood:
9	chr8:99054937..99059484-chr8:99117612..99122860,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL30	TF binding region
SNORA72	TF binding region
RNU6-703P	TF binding region
ENSG00000132561	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000147649	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000104341	Chromatin interaction
ENSG00000008282	Chromatin interaction
ENSG00000252755	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12545793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444860	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62523598	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99056000-99059400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:99056800-99059400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99057000-99059400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:99058400-99059400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:99058600-99059400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:99058800-99059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:99058800-99059400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:99058800-99059400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:99058800-99059400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:99058800-99059400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:99058800-99059400	Enhancers	Left Ventricle	heart
12	chr8:99058800-99059400	Enhancers	Lung	lung
13	chr8:99058800-99059400	Enhancers	Pancreas	Pancrea
14	chr8:99058800-99059400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:99058800-99059400	Enhancers	Stomach Mucosa	stomach
16	chr8:99059000-99059400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:99059000-99059400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:99059000-99059400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:99059000-99059400	Enhancers	Liver	Liver
20	chr8:99059000-99059400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:99059000-99059400	Enhancers	Esophagus	oesophagus
22	chr8:99059000-99059400	Enhancers	Fetal Intestine Large	intestine
23	chr8:99059000-99059400	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:99059000-99059400	Enhancers	Fetal Muscle Leg	muscle
25	chr8:99059000-99059400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:99059000-99059400	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:99059000-99059400	Enhancers	Thymus	Thymus
28	chr8:99059000-99059600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:99059000-99060800	Weak transcription	Ovary	ovary
30	chr8:99059000-99061200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:99059000-99063400	Weak transcription	Brain Angular Gyrus	brain
32	chr8:99059200-99059400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:99059200-99059400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:99059200-99059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:99059200-99059400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:99059200-99059400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:99059200-99059400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:99059200-99059400	Active TSS	Fetal Brain Female	brain
39	chr8:99059200-99059400	Enhancers	Dnd41	blood
40	chr8:99059200-99060000	Enhancers	Fetal Intestine Small	intestine
41	chr8:99059200-99061000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:99059200-99061400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:99059200-99061400	Weak transcription	K562	blood
44	chr8:99059200-99061600	Weak transcription	Brain Germinal Matrix	brain
45	chr8:99059200-99061600	Weak transcription	Spleen	Spleen
46	chr8:99059200-99061600	Weak transcription	HMEC	breast
47	chr8:99059200-99061800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:99059200-99061800	Weak transcription	Brain Substantia Nigra	brain
49	chr8:99059200-99061800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:99059200-99061800	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links