Variant report

Variant	rs10096837
Chromosome Location	chr8:85095656-85095657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:85095207-85095730	ECC-1	luminal epithelium:	n/a	n/a
2	BACH1	chr8:85094981-85095827	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:85094200-85096254	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:85093791-85095872	PFSK-1	brain:	n/a	n/a
5	USF1	chr8:85095481-85095958	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr8:85095520-85095670	SK-N-SH_RA	brain:	n/a	n/a
7	TAF1	chr8:85093918-85095821	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr8:85095351-85095724	MCF-7	breast:	n/a	n/a
9	E2F6	chr8:85095100-85095959	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr8:85095510-85095911	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr8:85095397-85095854	ECC-1	luminal epithelium:	n/a	chr8:85095415-85095426
12	FOXP2	chr8:85095176-85095825	SK-N-MC	brain:	n/a	n/a
13	MAX	chr8:85095224-85095782	A549	lung:	n/a	chr8:85095693-85095702 chr8:85095693-85095702
14	MYC	chr8:85095242-85095702	MCF-7	breast:	n/a	chr8:85095693-85095702 chr8:85095693-85095702
15	MAX	chr8:85095367-85095906	ECC-1	luminal epithelium:	n/a	chr8:85095693-85095702 chr8:85095693-85095702
16	E2F6	chr8:85095305-85095829	A549	lung:	n/a	n/a
17	MAX	chr8:85095227-85095882	ECC-1	luminal epithelium:	n/a	chr8:85095693-85095702 chr8:85095693-85095702
18	USF1	chr8:85095555-85095871	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr8:85094438-85095733	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr8:85095187-85095803	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr8:85092811-85095904	PFSK-1	brain:	n/a	n/a
22	USF1	chr8:85095549-85095879	SK-N-SH	brain:	n/a	n/a
23	CTBP2	chr8:85094338-85095741	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr8:85095095-85095872	H1-hESC	embryonic stem cell:	n/a	chr8:85095693-85095702 chr8:85095693-85095702
25	USF2	chr8:85095527-85095837	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXP2	chr8:85095164-85095727	PFSK-1	brain:	n/a	n/a
27	TAF1	chr8:85095121-85095895	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr8:85094290-85095911	H1-neurons	neurons:	n/a	n/a
29	USF1	chr8:85095527-85095800	SK-N-SH_RA	brain:	n/a	n/a
30	TAF1	chr8:85095382-85095873	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr8:85095209-85095948	SK-N-MC	brain:	n/a	n/a
32	REST	chr8:85093816-85097242	H1-neurons	neurons:	n/a	chr8:85095295-85095308 chr8:85096899-85096912 chr8:85094800-85094813
33	TCF7L2	chr8:85094979-85095725	PANC-1	pancreas:	n/a	n/a
34	USF1	chr8:85095481-85095776	SK-N-SH_RA	brain:	n/a	n/a
35	USF1	chr8:85095368-85095862	ECC-1	luminal epithelium:	n/a	n/a
36	E2F6	chr8:85095195-85095822	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr8:85095174-85095836	H1-hESC	embryonic stem cell:	n/a	chr8:85095693-85095702 chr8:85095693-85095702

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:85095654-85095704	HRE	kidney:	n/a
2	chr8:85095654-85095704	AG09309	skin:	n/a
3	chr8:85095654-85095704	AG04449	skin:	fetal
4	chr8:85095654-85095704	RPTEC	kidney:	n/a
5	chr8:85095654-85095704	A549	lung:	n/a
6	chr8:85095654-85095704	HNPCEpiC	eye:	n/a
7	chr8:85095654-85095704	MCF10A-Er-Src	breast:	n/a
8	chr8:85095654-85095704	BE2_C	brain:	n/a
9	chr8:85095654-85095704	HMEC	breast:	n/a
10	chr8:85095654-85095704	GM12892	blood:	n/a
11	chr8:85095654-85095704	NT2-D1	testis:	n/a
12	chr8:85095654-85095704	HRPEpiC	eye:	n/a
13	chr8:85095654-85095704	HUVEC	blood vessel:	n/a
14	chr8:85095654-85095704	HepG2	liver:	n/a
15	chr8:85095654-85095704	HRCEpiC	kidney:	n/a
16	chr8:85095654-85095704	Hepatocyte	liver:	n/a
17	chr8:85095654-85095704	AG04450	lung:	fetal
18	chr8:85095654-85095704	H1-hESC	embryonic stem cell:	embryo
19	chr8:85095654-85095704	NHDF-neo	bronchial:	n/a
20	chr8:85095654-85095704	GM19239	blood:	n/a
21	chr8:85095654-85095704	HCPEpiC	choroid plexus:	n/a
22	chr8:85095654-85095704	PFSK-1	brain:	n/a
23	chr8:85095654-85095704	HCF	heart:	n/a
24	chr8:85095654-85095704	ECC-1	luminal epithelium:	n/a
25	chr8:85095654-85095704	AG10803	skin:	n/a
26	chr8:85095654-85095704	PANC-1	pancreas:	n/a
27	chr8:85095654-85095704	GM06990	blood:	n/a
28	chr8:85095654-85095704	HIPEpiC	eye:	n/a
29	chr8:85095654-85095704	BJ	skin:	n/a
30	chr8:85095654-85095704	Hela-S3	cervix:	n/a
31	chr8:85095654-85095704	SK-N-SH_RA	brain:	n/a
32	chr8:85095654-85095704	ProgFib	skin:	n/a
33	chr8:85095654-85095704	LNCaP	prostate:	n/a
34	chr8:85095654-85095704	HCM	heart:	n/a
35	chr8:85095654-85095704	AoSMC	blood vessel:	n/a
36	chr8:85095654-85095704	SK-N-SH	brain:	n/a
37	chr8:85095654-85095704	PrEC	prostate:	n/a
38	chr8:85095654-85095704	NB4	blood:	n/a
39	chr8:85095654-85095704	NHBE	bronchial:	n/a
40	chr8:85095654-85095704	GM12891	blood:	n/a
41	chr8:85095654-85095704	HEEpiC	esophagus:	n/a
42	chr8:85095654-85095704	Jurkat	blood:	n/a
43	chr8:85095654-85095704	NH-A	brain:	n/a
44	chr8:85095654-85095704	HL-60	blood:	n/a
45	chr8:85095654-85095704	SAEC	small airway:	n/a
46	chr8:85095654-85095704	HEK293	kidney:	embryo
47	chr8:85095654-85095704	U87	brain:	n/a
48	chr8:85095654-85095704	AG09319	gingival:	n/a
49	chr8:85095654-85095704	IMR90	lung:	fetal
50	chr8:85095654-85095704	SKMC	muscle:	n/a

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10088407	1.00[AMR][1000 genomes]
rs10093509	1.00[AMR][1000 genomes]
rs16912698	1.00[MEX][hapmap]
rs57108863	1.00[AMR][1000 genomes]
rs7006199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302441	1.00[AMR][1000 genomes]
rs73689607	1.00[AMR][1000 genomes]
rs7825336	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs7831643	1.00[MEX][hapmap]

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:93 , 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	chr8:85094000-85096000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:85094000-85096000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:85094000-85098600	Active TSS	Brain Anterior Caudate	brain
7	chr8:85094200-85095800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:85094200-85096000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:85094200-85097200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:85094200-85097800	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr8:85094200-85098000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr8:85094400-85095800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:85094400-85095800	Enhancers	Gastric	stomach
14	chr8:85094400-85095800	Flanking Active TSS	Pancreas	Pancrea
15	chr8:85094400-85096000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:85094400-85096200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
17	chr8:85094400-85096600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:85094400-85097200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:85094400-85097200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr8:85094400-85098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:85094600-85095800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:85094600-85095800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:85094600-85095800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr8:85094600-85095800	ZNF genes & repeats	Spleen	Spleen
25	chr8:85094600-85096200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr8:85094600-85096200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:85094600-85096600	Active TSS	Right Ventricle	heart
28	chr8:85094600-85097400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr8:85094600-85097400	Bivalent/Poised TSS	Left Ventricle	heart
30	chr8:85094600-85097600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr8:85094600-85098200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr8:85094600-85098600	Active TSS	Right Atrium	heart
33	chr8:85094800-85095800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:85094800-85095800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr8:85094800-85096000	Active TSS	Brain Substantia Nigra	brain
36	chr8:85094800-85096000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr8:85094800-85096200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:85094800-85096200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr8:85094800-85098200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:85095000-85095800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:85095000-85095800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:85095000-85096000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr8:85095000-85096400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:85095200-85095800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr8:85095200-85095800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:85095200-85095800	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr8:85095200-85095800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:85095200-85095800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
49	chr8:85095200-85095800	Bivalent Enhancer	Lung	lung
50	chr8:85095200-85095800	Flanking Bivalent TSS/Enh	Ovary	ovary

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