Variant report

Variant	rs7815593
Chromosome Location	chr8:85096543-85096544
allele	A/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	SIN3AK20	chr8:85096485-85097651	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr8:85096494-85097469	H1-neurons	neurons:	n/a	n/a
3	SIN3A	chr8:85096460-85097358	H1-hESC	embryonic stem cell:	n/a	chr8:85096899-85096912 chr8:85097047-85097060
4	TAF1	chr8:85096493-85096955	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr8:85096287-85097377	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr8:85096467-85097526	H1-neurons	neurons:	n/a	n/a
7	REST	chr8:85093816-85097242	H1-neurons	neurons:	n/a	chr8:85095295-85095308 chr8:85096899-85096912 chr8:85094800-85094813
8	POLR2A	chr8:85096429-85097739	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
RALYL	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10086739	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10103882	0.94[JPT][hapmap];1.00[YRI][hapmap]
rs10808859	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12546578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866087	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2118320	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2196617	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2196618	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6473528	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821259	0.80[EUR][1000 genomes];0.91[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	esv2753846	chr8:84637092-85239703	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv611646	chr8:85048690-85112377	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85093800-85096600	Active TSS	Fetal Brain Female	brain
2	chr8:85093800-85097600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:85093800-85097600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:85094000-85098600	Active TSS	Brain Anterior Caudate	brain
5	chr8:85094200-85097200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:85094200-85097800	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr8:85094200-85098000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:85094400-85096600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:85094400-85097200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:85094400-85097200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr8:85094400-85098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:85094600-85096600	Active TSS	Right Ventricle	heart
13	chr8:85094600-85097400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
14	chr8:85094600-85097400	Bivalent/Poised TSS	Left Ventricle	heart
15	chr8:85094600-85097600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:85094600-85098200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr8:85094600-85098600	Active TSS	Right Atrium	heart
18	chr8:85094800-85098200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:85095200-85096600	Active TSS	Brain Angular Gyrus	brain
20	chr8:85095200-85097000	Bivalent Enhancer	Fetal Heart	heart
21	chr8:85095200-85097200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr8:85095200-85097600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr8:85095400-85097200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:85095400-85098200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:85095800-85096600	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr8:85095800-85096600	Bivalent Enhancer	Fetal Lung	lung
27	chr8:85095800-85096600	Weak transcription	Spleen	Spleen
28	chr8:85095800-85097200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:85095800-85097400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr8:85095800-85097400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:85096000-85096600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:85096000-85096600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr8:85096000-85096800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr8:85096000-85096800	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr8:85096000-85097000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr8:85096000-85097400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:85096000-85097400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
38	chr8:85096200-85096600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:85096200-85096600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:85096200-85096600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:85096200-85096600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:85096200-85096600	Bivalent Enhancer	Colon Smooth Muscle	Colon
43	chr8:85096200-85096600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr8:85096200-85096600	Enhancers	Pancreas	Pancrea
45	chr8:85096200-85096600	Bivalent Enhancer	NH-A	brain
46	chr8:85096200-85096800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr8:85096200-85096800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:85096200-85096800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr8:85096200-85097000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr8:85096200-85097400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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