Variant report

Variant	rs66467223
Chromosome Location	chr8:125279128-125279129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:125278994-125279359	K562	blood:	n/a	n/a
2	CTCF	chr8:125278949-125279223	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr8:125279017-125279213	HepG2	liver:	n/a	n/a
4	CTCF	chr8:125278927-125279280	K562	blood:	n/a	n/a
5	ZNF143	chr8:125279025-125279211	K562	blood:	n/a	n/a
6	CTCF	chr8:125279080-125279230	A549	lung:	n/a	n/a
7	CTCF	chr8:125279018-125279153	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:125279060-125279210	GM12875	blood:	n/a	n/a
9	CTCF	chr8:125279000-125279150	AG04449	skin:	n/a	n/a
10	CTCF	chr8:125279040-125279190	K562	blood:	n/a	n/a
11	CTCF	chr8:125278980-125279130	BE2_C	brain:	n/a	n/a
12	CTCF	chr8:125279020-125279170	Caco-2	colon:	n/a	n/a
13	CTCF	chr8:125279063-125279141	IMR90	lung:	n/a	n/a
14	CTCF	chr8:125279000-125279150	HCFaa	heart:	n/a	n/a
15	CTCF	chr8:125278980-125279130	HA-sp	spinal cord:	n/a	n/a
16	RAD21	chr8:125278861-125279369	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:125278980-125279130	HVMF	connective:	n/a	n/a
18	CTCF	chr8:125279012-125279166	HepG2	liver:	n/a	n/a
19	RAD21	chr8:125278900-125279242	HepG2	liver:	n/a	n/a
20	CTCF	chr8:125279020-125279170	HCPEpiC	choroid plexus:	n/a	n/a
21	RAD21	chr8:125279020-125279184	K562	blood:	n/a	n/a
22	CTCF	chr8:125279040-125279190	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr8:125278980-125279130	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr8:125279020-125279170	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:125279032-125279129	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:125279000-125279150	A549	lung:	n/a	n/a
27	CTCF	chr8:125279040-125279190	HVMF	connective:	n/a	n/a
28	CTCF	chr8:125278933-125279241	K562	blood:	n/a	n/a
29	CTCF	chr8:125279040-125279190	HCPEpiC	choroid plexus:	n/a	n/a
30	RAD21	chr8:125278961-125279213	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr8:125278949-125279200	K562	blood:	n/a	n/a
32	CTCF	chr8:125279000-125279150	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:125279000-125279150	K562	blood:	n/a	n/a
34	CTCF	chr8:125279003-125279179	K562	blood:	n/a	n/a
35	CTCF	chr8:125279020-125279170	HepG2	liver:	n/a	n/a
36	RAD21	chr8:125278973-125279253	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr8:125278982-125279154	K562	blood:	n/a	n/a
38	CTCF	chr8:125279036-125279136	HepG2	liver:	n/a	n/a
39	CTCF	chr8:125278980-125279130	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr8:125279000-125279150	HepG2	liver:	n/a	n/a
41	CTCF	chr8:125278940-125279206	K562	blood:	n/a	n/a
42	CTCF	chr8:125279080-125279230	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr8:125279000-125279150	HPF	lung:	n/a	n/a
44	CTCF	chr8:125279000-125279150	HMF	breast:	n/a	n/a
45	CTCF	chr8:125279020-125279170	HCT-116	colon:	n/a	n/a
46	CTCF	chr8:125278980-125279130	HEK293	kidney:	n/a	n/a
47	CTCF	chr8:125278932-125279199	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr8:125278939-125279260	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr8:125279080-125279230	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr8:125278889-125279295	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125273484..125276342-chr8:125277791..125281041,4	K562	blood:
2	chr8:125273998..125276342-chr8:125277688..125279573,2	K562	blood:
3	chr8:125277499..125279728-chr8:125280833..125283202,2	MCF-7	breast:
4	chr8:125278615..125279574-chr8:125437995..125438639,3	K562	blood:
5	chr8:125278138..125281039-chr8:125391343..125392943,2	MCF-7	breast:
6	chr8:125278702..125279580-chr8:125437290..125438183,3	MCF-7	breast:
7	chr8:125278580..125279450-chr8:125437284..125438438,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253227	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087062	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10087137	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10087222	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10087374	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10091808	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10092616	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13439237	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13439439	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17295226	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17295548	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17360746	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17360788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374970	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4504618	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4593526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871476	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871478	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871480	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871481	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871482	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55784871	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55945711	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56068026	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56218959	0.83[ASN][1000 genomes]
rs56383080	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60167901	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60995425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66961607	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67153514	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67712436	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67815046	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68047305	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983392	0.82[ASN][1000 genomes]
rs6984141	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6984458	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6984642	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984921	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986310	0.89[EUR][1000 genomes]
rs6988141	0.83[ASN][1000 genomes]
rs7003238	0.82[ASN][1000 genomes]
rs7003974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011052	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011213	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72719397	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345172	0.83[ASN][1000 genomes]
rs73345176	0.81[ASN][1000 genomes]
rs7842882	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9297693	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643192	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969472	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969473	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969475	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969479	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969480	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969624	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66467223	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
3	chr8:125275400-125281200	Weak transcription	Left Ventricle	heart
4	chr8:125275400-125281200	Weak transcription	Right Atrium	heart
5	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125275600-125279200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:125275800-125279200	Weak transcription	Pancreas	Pancrea
9	chr8:125275800-125281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:125275800-125281200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:125275800-125281200	Weak transcription	Psoas Muscle	Psoas
12	chr8:125276000-125279400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:125276000-125279400	Weak transcription	Hela-S3	cervix
14	chr8:125276000-125280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:125276000-125281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:125276400-125279400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:125276600-125279200	Weak transcription	A549	lung
18	chr8:125276600-125279400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:125276800-125281600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:125277000-125279200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:125277000-125279200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:125277400-125279400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:125277600-125279200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:125278000-125279200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:125278800-125279600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:125279000-125279400	Enhancers	Right Ventricle	heart
27	chr8:125279000-125279600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:125279000-125280000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:125279000-125280200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:125279000-125280200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:125279000-125280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:125279000-125280600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:125279000-125280600	Enhancers	HUVEC	blood vessel

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