Variant report

Variant	rs2138144
Chromosome Location	chr8:78310755-78310756
allele	A/C
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	CTCF	chr8:78310620-78310770	HUVEC	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
2	CTCF	chr8:78310562-78310770	SK-N-SH_RA	brain:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
3	RAD21	chr8:78310489-78310865	GM12878	blood:	n/a	chr8:78310689-78310708
4	CTCF	chr8:78310620-78310770	HMF	breast:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
5	CTCF	chr8:78310485-78310868	IMR90	lung:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
6	RAD21	chr8:78310511-78310860	HepG2	liver:	n/a	chr8:78310689-78310708
7	CTCF	chr8:78310620-78310770	MCF-7	breast:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
8	CTCF	chr8:78310620-78310770	GM12865	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
9	CTCF	chr8:78310565-78310818	HUVEC	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
10	RAD21	chr8:78310469-78310889	Hela-S3	cervix:	n/a	chr8:78310689-78310708
11	RAD21	chr8:78310348-78311018	HCT-116	colon:	n/a	chr8:78310689-78310708
12	RAD21	chr8:78310425-78310882	H1-hESC	embryonic stem cell:	n/a	chr8:78310689-78310708
13	RAD21	chr8:78310532-78310822	A549	lung:	n/a	chr8:78310689-78310708
14	RAD21	chr8:78310440-78311017	MCF-7	breast:	n/a	chr8:78310689-78310708
15	RAD21	chr8:78310417-78310909	HepG2	liver:	n/a	chr8:78310689-78310708
16	CTCF	chr8:78310620-78310770	AoAF	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
17	CTCF	chr8:78310640-78310790	BJ	skin:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
18	CTCF	chr8:78310597-78310798	GM13977	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
19	CTCF	chr8:78310640-78310790	GM12865	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
20	CTCF	chr8:78310620-78310770	HBMEC	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
21	SMC3	chr8:78310500-78310871	GM12878	blood:	n/a	n/a
22	RFX5	chr8:78310545-78310853	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:78310660-78310810	NHDF-neo	bronchial:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
24	CTCF	chr8:78310660-78310810	A549	lung:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
25	CTCF	chr8:78310414-78310916	HCT-116	colon:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
26	RAD21	chr8:78310533-78310766	GM12878	blood:	n/a	chr8:78310689-78310708
27	NR2F2	chr8:78310603-78310891	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:78310620-78310770	WERI-Rb-1	eye:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
29	CTCF	chr8:78310620-78310770	Caco-2	colon:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
30	CTCF	chr8:78310603-78310788	Spleen_OC	spleen:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
31	CTCF	chr8:78310620-78310770	HPAF	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
32	CTCF	chr8:78310478-78310910	GM12878	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
33	CTCF	chr8:78310620-78310770	HRE	kidney:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
34	RAD21	chr8:78310492-78310885	ECC-1	luminal epithelium:	n/a	chr8:78310689-78310708
35	RAD21	chr8:78310488-78310924	HCT-116	colon:	n/a	chr8:78310689-78310708
36	CTCF	chr8:78310680-78310830	GM12864	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
37	CTCF	chr8:78310640-78310790	WI-38	lung:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
38	RAD21	chr8:78310298-78311432	SK-N-SH	brain:	n/a	chr8:78310689-78310708
39	CTCF	chr8:78310640-78310790	HPAF	blood vessel:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
40	SMC3	chr8:78310432-78311070	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr8:78310620-78310770	Hela-S3	cervix:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
42	RAD21	chr8:78310498-78310875	H1-hESC	embryonic stem cell:	n/a	chr8:78310689-78310708
43	ESRRA	chr8:78310331-78311074	GM12878	blood:	n/a	chr8:78310706-78310719 chr8:78310707-78310717 chr8:78310703-78310719 chr8:78310707-78310717
44	CTCF	chr8:78310640-78310790	HCPEpiC	choroid plexus:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
45	CTCF	chr8:78310640-78310790	HEEpiC	esophagus:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
46	RAD21	chr8:78310542-78310909	H1-hESC	embryonic stem cell:	n/a	chr8:78310689-78310708
47	CTCF	chr8:78310660-78310810	HAc	cerebellar:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
48	CTCF	chr8:78310501-78310788	SK-N-SH_RA	brain:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708
49	SMC3	chr8:78310482-78310871	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr8:78310640-78310790	GM12869	blood:	n/a	chr8:78310686-78310707 chr8:78310691-78310709 chr8:78310692-78310708

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:77279732..77280710-chr8:78310370..78311176,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254366	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13261069	0.81[EUR][1000 genomes]
rs1399610	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2879304	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265174	0.88[EUR][1000 genomes]
rs4284036	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822853	0.89[EUR][1000 genomes]
rs9298298	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891045	chr8:77998659-78477561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv891046	chr8:78265312-78311815	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891047	chr8:78265312-78322329	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv891048	chr8:78271372-78322329	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78309200-78310800	Weak transcription	HepG2	liver
2	chr8:78309800-78311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:78309800-78311400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:78310400-78310800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:78310600-78311200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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