Variant report

Variant	rs2059642
Chromosome Location	chr8:67379340-67379341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:67379170-67379444	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:67379280-67379430	Caco-2	colon:	n/a	n/a
3	CTCF	chr8:67379242-67379408	A549	lung:	n/a	n/a
4	RAD21	chr8:67379202-67379436	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr8:67379260-67379410	GM12866	blood:	n/a	n/a
6	CTCF	chr8:67379258-67379388	GM12892	blood:	n/a	n/a
7	CTCF	chr8:67379280-67379430	SAEC	small airway:	n/a	n/a
8	CTCF	chr8:67379276-67379359	GM19240	blood:	n/a	n/a
9	CTCF	chr8:67379220-67379370	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr8:67379142-67379452	GM12878	blood:	n/a	n/a
11	CTCF	chr8:67379239-67379372	HepG2	liver:	n/a	n/a
12	RAD21	chr8:67379223-67379425	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr8:67379220-67379370	HEK293	kidney:	n/a	n/a
14	CTCF	chr8:67379200-67379350	AG04449	skin:	n/a	n/a
15	CTCF	chr8:67379200-67379350	GM12868	blood:	n/a	n/a
16	CTCF	chr8:67379200-67379350	HepG2	liver:	n/a	n/a
17	CTCF	chr8:67379220-67379370	AG10803	skin:	n/a	n/a
18	CTCF	chr8:67379220-67379370	HBMEC	blood vessel:	n/a	n/a
19	RAD21	chr8:67379218-67379360	K562	blood:	n/a	n/a
20	CTCF	chr8:67379236-67379377	K562	blood:	n/a	n/a
21	CTCF	chr8:67379280-67379570	GM12872	blood:	n/a	n/a
22	RAD21	chr8:67379014-67379506	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:67379243-67379369	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:67379200-67379350	K562	blood:	n/a	n/a
25	CTCF	chr8:67379220-67379370	AG09319	gingival:	n/a	n/a
26	CTCF	chr8:67379220-67379370	GM12867	blood:	n/a	n/a
27	CTCF	chr8:67379311-67379363	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:67379223-67379369	ProgFib	skin:	n/a	n/a
29	CTCF	chr8:67379220-67379370	A549	lung:	n/a	n/a
30	CTCF	chr8:67379240-67379390	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr8:67379260-67379410	GM12874	blood:	n/a	n/a
32	CTCF	chr8:67379260-67379410	HAc	cerebellar:	n/a	n/a
33	CTCF	chr8:67379220-67379370	GM12865	blood:	n/a	n/a
34	CTCF	chr8:67379200-67379350	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr8:67379260-67379410	GM12873	blood:	n/a	n/a
36	CTCF	chr8:67379240-67379390	RPTEC	kidney:	n/a	n/a
37	SMC3	chr8:67379169-67379392	GM12878	blood:	n/a	n/a
38	RAD21	chr8:67379149-67379450	HepG2	liver:	n/a	n/a
39	CTCF	chr8:67379240-67379390	Caco-2	colon:	n/a	n/a
40	CTCF	chr8:67379200-67379350	BJ	skin:	n/a	n/a
41	CTCF	chr8:67379303-67379373	GM12891	blood:	n/a	n/a
42	RAD21	chr8:67379176-67379482	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr8:67379280-67379430	NHEK	skin:	n/a	n/a
44	CTCF	chr8:67379260-67379410	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr8:67379200-67379350	HPAF	blood vessel:	n/a	n/a
46	RAD21	chr8:67379150-67379405	GM12878	blood:	n/a	n/a
47	CTCF	chr8:67379240-67379390	AG10803	skin:	n/a	n/a
48	CTCF	chr8:67379300-67379450	GM12864	blood:	n/a	n/a
49	CTCF	chr8:67379200-67379350	HFF	foreskin:	n/a	n/a
50	CTCF	chr8:67379189-67379397	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57920618..57922939-chr8:67379137..67382122,2	MCF-7	breast:
2	chr8:67378228..67380679-chr8:67388244..67390416,2	MCF-7	breast:
3	chr8:67379259..67381817-chr8:67625879..67628203,2	MCF-7	breast:
4	chr8:67378110..67380525-chr8:67519992..67522222,2	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf46	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1030421	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs1060242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13682	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1426907	0.85[EUR][1000 genomes]
rs2059640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357893	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357894	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465982	0.81[EUR][1000 genomes]
rs2465990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555568	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2555569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2555570	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555571	0.87[EUR][1000 genomes]
rs2555572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555574	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555575	0.87[EUR][1000 genomes]
rs2555587	0.86[EUR][1000 genomes]
rs2719000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719002	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719006	0.87[EUR][1000 genomes]
rs2719008	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35352031	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4532579	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55878528	0.94[ASN][1000 genomes]
rs7014980	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs890515	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2059642	C8orf46	cis	Artery Aorta	GTEx
rs2059642	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx
rs2059642	C8orf46	cis	Adipose Subcutaneous	GTEx
rs2059642	ADHFE1	cis	Artery Tibial	GTEx
rs2059642	C8orf46	cis	Esophagus Mucosa	GTEx
rs2059642	ADHFE1	cis	Thyroid	GTEx
rs2059642	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2059642	C8orf46	cis	Esophagus Muscularis	GTEx
rs2059642	C8orf46	cis	Nerve Tibial	GTEx
rs2059642	ADHFE1	cis	Muscle Skeletal	GTEx
rs2059642	C8orf46	cis	Stomach	GTEx
rs2059642	C8orf46	cis	lung	GTEx
rs2059642	ADHFE1	cis	Heart Left Ventricle	GTEx
rs2059642	ADHFE1	cis	Esophagus Muscularis	GTEx
rs2059642	C8orf46	cis	Thyroid	GTEx
rs2059642	C8orf46	cis	Artery Tibial	GTEx
rs2059642	ADHFE1	cis	Nerve Tibial	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
5	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
6	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:67372600-67381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:67372600-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:67372800-67380200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:67372800-67381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:67372800-67383600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:67373600-67380400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:67373800-67379800	Weak transcription	Gastric	stomach
19	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:67374000-67381200	Weak transcription	Spleen	Spleen
21	chr8:67374400-67382200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:67374800-67379400	Weak transcription	Aorta	Aorta
23	chr8:67374800-67384600	Weak transcription	Lung	lung
24	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
25	chr8:67375000-67379600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:67375000-67384600	Weak transcription	Right Ventricle	heart
27	chr8:67376400-67382200	Weak transcription	NHEK	skin
28	chr8:67376400-67382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:67376400-67383000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:67376400-67383800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:67376400-67384200	Weak transcription	HSMM	muscle
32	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
33	chr8:67376800-67380600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:67376800-67382200	Weak transcription	NH-A	brain
35	chr8:67376800-67383600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:67376800-67384000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:67376800-67384800	Weak transcription	Fetal Lung	lung
38	chr8:67377000-67379400	Weak transcription	Ovary	ovary
39	chr8:67377200-67381400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:67377200-67382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
42	chr8:67377400-67382800	Weak transcription	Hela-S3	cervix
43	chr8:67377600-67379400	Weak transcription	Adipose Nuclei	Adipose
44	chr8:67378200-67381800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:67378400-67379600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:67378800-67379400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:67378800-67379400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:67378800-67379600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:67378800-67379600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:67378800-67379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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