Variant report

Variant	rs182899
Chromosome Location	chr5:68344178-68344179
allele	A/G
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	chr5:68344134-68344310	HepG2	liver:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
2	CTCF	chr5:68344137-68344292	GM13977	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
3	CTCF	chr5:68344141-68344296	HUVEC	blood vessel:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
4	ARID3A	chr5:68344035-68344376	K562	blood:	n/a	n/a
5	RAD21	chr5:68343991-68344390	Hela-S3	cervix:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
6	CTCF	chr5:68344120-68344270	HCPEpiC	choroid plexus:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
7	ZNF143	chr5:68344022-68344348	K562	blood:	n/a	n/a
8	EP300	chr5:68343906-68344349	K562	blood:	n/a	n/a
9	RAD21	chr5:68344040-68344302	GM12878	blood:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
10	ARID3A	chr5:68344149-68344393	HepG2	liver:	n/a	n/a
11	CTCF	chr5:68344160-68344310	HFF	foreskin:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
12	CTCF	chr5:68344120-68344270	K562	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
13	RAD21	chr5:68343934-68344356	SK-N-SH_RA	brain:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
14	CTCF	chr5:68344160-68344310	HUVEC	blood vessel:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
15	CTCF	chr5:68344120-68344270	AG04449	skin:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
16	RAD21	chr5:68343940-68344487	HCT-116	colon:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
17	CTCF	chr5:68344120-68344270	HBMEC	blood vessel:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
18	CTCF	chr5:68343829-68344564	A549	lung:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
19	RFX5	chr5:68344157-68344360	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:68344140-68344290	GM06990	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
21	CTCF	chr5:68344060-68344356	K562	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
22	CTCF	chr5:68344049-68344331	SK-N-SH_RA	brain:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
23	CTCF	chr5:68343975-68344396	K562	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
24	CTCF	chr5:68344156-68344241	Kidney_OC	kidney:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
25	CTCF	chr5:68343892-68344430	HCT-116	colon:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
26	RAD21	chr5:68344053-68344332	GM12878	blood:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
27	CTCF	chr5:68344160-68344310	SK-N-SH_RA	brain:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
28	RAD21	chr5:68343894-68344391	A549	lung:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
29	CTCF	chr5:68344059-68344345	MCF-7	breast:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
30	CTCF	chr5:68344080-68344230	HAc	cerebellar:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
31	CTCF	chr5:68344120-68344270	MCF-7	breast:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
32	CTCF	chr5:68344160-68344310	BE2_C	brain:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
33	SMC3	chr5:68343807-68344526	SK-N-SH	brain:	n/a	chr5:68344201-68344215
34	CTCF	chr5:68344140-68344290	BJ	skin:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
35	MAX	chr5:68344152-68344301	NB4	blood:	n/a	n/a
36	CTCF	chr5:68344140-68344290	BE2_C	brain:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
37	RAD21	chr5:68343917-68344437	H1-hESC	embryonic stem cell:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
38	RAD21	chr5:68344004-68344388	H1-hESC	embryonic stem cell:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
39	RAD21	chr5:68343900-68344466	HCT-116	colon:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
40	RAD21	chr5:68343887-68344456	MCF-7	breast:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
41	CTCF	chr5:68344140-68344290	HUVEC	blood vessel:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
42	CTCF	chr5:68344111-68344307	ProgFib	skin:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
43	CTCF	chr5:68344135-68344290	GM10248	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
44	ZNF143	chr5:68344068-68344360	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr5:68344140-68344290	GM12871	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
46	RAD21	chr5:68344064-68344350	HepG2	liver:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
47	RAD21	chr5:68344024-68344288	K562	blood:	n/a	chr5:68344207-68344214 chr5:68344197-68344216
48	CTCF	chr5:68344140-68344290	GM12869	blood:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
49	CTCF	chr5:68344120-68344270	AG04450	lung:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212
50	CTCF	chr5:68344160-68344310	NHDF-neo	bronchial:	n/a	chr5:68344194-68344215 chr5:68344200-68344216 chr5:68344199-68344217 chr5:68344204-68344212

No.	Distal block	Cell Line	Cell type
1	chr5:68342981..68345897-chr5:68356534..68359095,2	K562	blood:
2	chr5:68342686..68345135-chr5:68627901..68629727,2	K562	blood:
3	chr5:68327990..68328493-chr5:68343712..68344547,2	MCF-7	breast:
4	chr5:68343635..68345717-chr5:68626604..68629727,3	K562	blood:

Variant related genes	Relation type
ENSG00000250237	TF binding region
ENSG00000183323	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10037187	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs149292	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1612772	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs164563	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1650777	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs180390	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982773	0.94[ASN][1000 genomes]
rs2260234	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2327641	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2434344	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2434345	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450228	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450234	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2637136	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2876310	0.91[ASN][1000 genomes]
rs6861079	0.90[ASN][1000 genomes]
rs7448416	0.91[ASN][1000 genomes]
rs7710635	0.93[ASN][1000 genomes]
rs7722972	0.93[ASN][1000 genomes]
rs7727236	0.90[ASN][1000 genomes]

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68339400-68345600	Weak transcription	HSMMtube	muscle
2	chr5:68339800-68344800	Weak transcription	HepG2	liver
3	chr5:68340000-68345600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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