Variant report

Variant	rs4466429
Chromosome Location	chr8:114390945-114390946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:114390840-114391130	HRE	kidney:	n/a	n/a
2	RAD21	chr8:114390789-114391214	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr8:114390900-114391050	BE2_C	brain:	n/a	n/a
4	CTCF	chr8:114390915-114391109	LNCaP	prostate:	n/a	n/a
5	CTCF	chr8:114390920-114391070	GM12873	blood:	n/a	n/a
6	CTCF	chr8:114390940-114391090	HA-sp	spinal cord:	n/a	n/a
7	RAD21	chr8:114390721-114391296	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:114390912-114391091	Gliobla	brain:	n/a	n/a
9	CTCF	chr8:114390940-114391090	HAc	cerebellar:	n/a	n/a
10	CTCF	chr8:114390920-114391070	HEK293	kidney:	n/a	n/a
11	CTCF	chr8:114390887-114391145	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:114390843-114391106	T-47D	breast:	n/a	n/a
13	CTCF	chr8:114390940-114391090	HMEC	breast:	n/a	n/a
14	CTCF	chr8:114390856-114391182	GM12878	blood:	n/a	n/a
15	CTCF	chr8:114390920-114391070	GM06990	blood:	n/a	n/a
16	CTCF	chr8:114390743-114391286	MCF-7	breast:	n/a	n/a
17	RAD21	chr8:114390899-114391072	SK-N-SH_RA	brain:	n/a	n/a
18	RAD21	chr8:114390767-114391161	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:114390840-114390990	NHEK	skin:	n/a	n/a
20	CTCF	chr8:114390920-114391070	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr8:114390940-114391090	GM12874	blood:	n/a	n/a
22	CTCF	chr8:114390840-114390990	A549	lung:	n/a	n/a
23	CEBPB	chr8:114390830-114391124	Hela-S3	cervix:	n/a	n/a
24	FOXA1	chr8:114390813-114391084	T-47D	breast:	n/a	n/a
25	CTCF	chr8:114390940-114391090	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr8:114390920-114391070	GM12874	blood:	n/a	n/a
27	CTCF	chr8:114390799-114391284	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:114390940-114391090	GM12868	blood:	n/a	n/a
29	CTCF	chr8:114390860-114391150	RPTEC	kidney:	n/a	n/a
30	RAD21	chr8:114390871-114391250	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr8:114390920-114391070	GM12865	blood:	n/a	n/a
32	CTCF	chr8:114390900-114391170	RPTEC	kidney:	n/a	n/a
33	RAD21	chr8:114390794-114391128	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr8:114390733-114391256	MCF-7	breast:	n/a	n/a
35	RAD21	chr8:114390855-114391186	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr8:114390881-114391053	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr8:114390900-114391050	HMEC	breast:	n/a	n/a
38	CTCF	chr8:114390894-114391146	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr8:114390900-114391050	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr8:114390941-114391109	LNCaP	prostate:	n/a	n/a
41	CTCF	chr8:114390920-114391070	SAEC	small airway:	n/a	n/a
42	CTCF	chr8:114390898-114391107	MCF-7	breast:	n/a	n/a
43	CTCF	chr8:114390885-114391082	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr8:114390906-114391158	Medullo	brain:	n/a	n/a
45	CTCF	chr8:114390900-114391050	HMF	breast:	n/a	n/a
46	SMC3	chr8:114390824-114391259	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114214112..114215316-chr8:114390224..114391492,6	MCF-7	breast:
2	chr8:113774024..113774627-chr8:114390471..114391174,2	MCF-7	breast:

No data

Variant related genes	Relation type
CSMD3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10100569	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10111690	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12547383	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4369017	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404945	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4461928	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4596683	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4876511	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6469454	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72670703	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687630	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687671	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72687673	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748960	1.00[CHB][hapmap]
rs7813842	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827767	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7828035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7830103	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7837326	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7842307	1.00[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1019362	chr8:114377031-114419106	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1031488	chr8:114382671-114419106	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114390400-114391000	Active TSS	Brain Angular Gyrus	brain
2	chr8:114390400-114391000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:114390400-114391000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:114390400-114391200	Active TSS	Brain Anterior Caudate	brain
5	chr8:114390400-114391200	Active TSS	Brain Substantia Nigra	brain
6	chr8:114390800-114391000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:114390800-114391000	Enhancers	Pancreas	Pancrea
8	chr8:114390800-114391000	Enhancers	Hela-S3	cervix

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