Variant report

Variant	rs6473528
Chromosome Location	chr8:85097067-85097068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr8:85097050-85097401	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr8:85096665-85097614	H1-hESC	embryonic stem cell:	n/a	chr8:85097184-85097196
3	CTBP2	chr8:85096544-85097365	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr8:85096485-85097651	PFSK-1	brain:	n/a	n/a
5	FOXP2	chr8:85096579-85097285	PFSK-1	brain:	n/a	n/a
6	BACH1	chr8:85096875-85097265	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:85096494-85097469	H1-neurons	neurons:	n/a	n/a
8	MAX	chr8:85096978-85097432	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr8:85096460-85097358	H1-hESC	embryonic stem cell:	n/a	chr8:85096899-85096912 chr8:85097047-85097060
10	TAF1	chr8:85096657-85097073	PFSK-1	brain:	n/a	n/a
11	RAD21	chr8:85096732-85097370	H1-hESC	embryonic stem cell:	n/a	chr8:85097184-85097196
12	POLR2A	chr8:85096287-85097377	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr8:85096467-85097526	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr8:85096974-85097406	PFSK-1	brain:	n/a	n/a
15	REST	chr8:85093816-85097242	H1-neurons	neurons:	n/a	chr8:85095295-85095308 chr8:85096899-85096912 chr8:85094800-85094813
16	POLR2A	chr8:85096429-85097739	PFSK-1	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:85097049-85097099	NH-A	brain:	n/a
2	chr8:85097049-85097099	HRCEpiC	kidney:	n/a
3	chr8:85097049-85097099	Jurkat	blood:	n/a
4	chr8:85097031-85097081	ECC-1	luminal epithelium:	n/a
5	chr8:85097056-85097106	MCF10A-Er-Src	breast:	n/a
6	chr8:85097031-85097081	PFSK-1	brain:	n/a
7	chr8:85097031-85097081	NT2-D1	testis:	n/a
8	chr8:85097056-85097106	NH-A	brain:	n/a
9	chr8:85097056-85097106	SK-N-SH_RA	brain:	n/a
10	chr8:85097031-85097081	HEEpiC	esophagus:	n/a
11	chr8:85097031-85097081	NHDF-neo	bronchial:	n/a
12	chr8:85097056-85097106	T-47D	breast:	n/a
13	chr8:85097031-85097081	HIPEpiC	eye:	n/a
14	chr8:85097056-85097106	BE2_C	brain:	n/a
15	chr8:85097056-85097106	MCF-7	breast:	n/a
16	chr8:85097056-85097106	AG04450	lung:	fetal
17	chr8:85097056-85097106	RPTEC	kidney:	n/a
18	chr8:85097049-85097099	GM12891	blood:	n/a
19	chr8:85097049-85097099	HAEpiC	amniotic membrane:	n/a
20	chr8:85097049-85097099	GM19239	blood:	n/a
21	chr8:85097031-85097081	HepG2	liver:	n/a
22	chr8:85097031-85097081	Hela-S3	cervix:	n/a
23	chr8:85097031-85097081	HRE	kidney:	n/a
24	chr8:85097056-85097106	BJ	skin:	n/a
25	chr8:85097049-85097099	AoSMC	blood vessel:	n/a
26	chr8:85097049-85097099	H1-hESC	embryonic stem cell:	embryo
27	chr8:85097031-85097081	NH-A	brain:	n/a
28	chr8:85097049-85097099	BJ	skin:	n/a
29	chr8:85097031-85097081	HRPEpiC	eye:	n/a
30	chr8:85097056-85097106	HL-60	blood:	n/a
31	chr8:85097056-85097106	AG10803	skin:	n/a
32	chr8:85097031-85097081	SK-N-MC	brain:	n/a
33	chr8:85097049-85097099	NT2-D1	testis:	n/a
34	chr8:85097049-85097099	PFSK-1	brain:	n/a
35	chr8:85097056-85097106	HEK293	kidney:	embryo
36	chr8:85097056-85097106	SK-N-SH	brain:	n/a
37	chr8:85097031-85097081	MCF10A-Er-Src	breast:	n/a
38	chr8:85097049-85097099	ProgFib	skin:	n/a
39	chr8:85097049-85097099	HIPEpiC	eye:	n/a
40	chr8:85097056-85097106	ovcar-3	ovarian:	n/a
41	chr8:85097049-85097099	HEEpiC	esophagus:	n/a
42	chr8:85097056-85097106	HCM	heart:	n/a
43	chr8:85097031-85097081	Hepatocyte	liver:	n/a
44	chr8:85097049-85097099	NB4	blood:	n/a
45	chr8:85097031-85097081	LNCaP	prostate:	n/a
46	chr8:85097056-85097106	HNPCEpiC	eye:	n/a
47	chr8:85097049-85097099	GM06990	blood:	n/a
48	chr8:85097056-85097106	NT2-D1	testis:	n/a
49	chr8:85097049-85097099	HL-60	blood:	n/a
50	chr8:85097031-85097081	HMEC	breast:	n/a

No data

Variant related genes	Relation type
RALYL	TF binding region
RALYL	CpG island

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

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

rs_ID	r²[population]
rs10099120	0.89[AFR][1000 genomes]
rs10112212	0.92[AFR][1000 genomes]
rs10808859	0.91[ASN][1000 genomes]
rs12546578	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550215	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898464	0.89[AFR][1000 genomes]
rs2118320	0.88[ASN][1000 genomes]
rs2196617	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2196618	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815593	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821259	0.80[AMR][1000 genomes];0.93[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85093800-85097600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:85093800-85097600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:85094000-85098600	Active TSS	Brain Anterior Caudate	brain
4	chr8:85094200-85097200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:85094200-85097800	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr8:85094200-85098000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr8:85094400-85097200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:85094400-85097200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr8:85094400-85098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:85094600-85097400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr8:85094600-85097400	Bivalent/Poised TSS	Left Ventricle	heart
12	chr8:85094600-85097600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr8:85094600-85098200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr8:85094600-85098600	Active TSS	Right Atrium	heart
15	chr8:85094800-85098200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:85095200-85097200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr8:85095200-85097600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr8:85095400-85097200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:85095400-85098200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:85095800-85097200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr8:85095800-85097400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr8:85095800-85097400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:85096000-85097400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:85096000-85097400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr8:85096200-85097400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr8:85096200-85097400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:85096400-85097400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:85096400-85097400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:85096400-85097400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:85096400-85097600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr8:85096600-85097200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:85096600-85097200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:85096600-85097200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:85096600-85097200	Bivalent Enhancer	Liver	Liver
35	chr8:85096600-85097200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr8:85096600-85097200	Bivalent/Poised TSS	Right Ventricle	heart
37	chr8:85096600-85097200	Active TSS	Spleen	Spleen
38	chr8:85096600-85097400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:85096600-85097400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:85096600-85097400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:85096600-85097400	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr8:85096600-85097600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:85096600-85097800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr8:85096600-85098200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr8:85096800-85097200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:85096800-85097200	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr8:85096800-85097200	Active TSS	Pancreas	Pancrea
48	chr8:85096800-85097400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:85097000-85097200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr8:85097000-85097200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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