Variant report

Variant	rs16888720
Chromosome Location	chr8:117778607-117778608
allele	C/T
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	E2F6	chr8:117778269-117778899	A549	lung:	n/a	chr8:117778736-117778743 chr8:117778557-117778566
2	JUND	chr8:117777617-117779056	K562	blood:	n/a	chr8:117778342-117778351
3	BHLHE40	chr8:117777833-117779350	K562	blood:	n/a	n/a
4	POLR2A	chr8:117778312-117780438	GM12878	blood:	n/a	n/a
5	JUND	chr8:117778479-117778848	HepG2	liver:	n/a	n/a
6	MAFK	chr8:117777700-117779012	K562	blood:	n/a	n/a
7	POLR2A	chr8:117777941-117779293	MCF-7	breast:	n/a	n/a
8	HA-E2F1	chr8:117777947-117779313	MCF-7	breast:	n/a	chr8:117778736-117778743 chr8:117778557-117778566
9	BCL3	chr8:117778017-117779023	A549	lung:	n/a	n/a
10	CTCF	chr8:117778520-117778670	GM12874	blood:	n/a	chr8:117778564-117778580
11	POLR2A	chr8:117778376-117779295	GM12878	blood:	n/a	n/a
12	MAX	chr8:117777974-117779617	A549	lung:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
13	CTCF	chr8:117778520-117778670	HBMEC	blood vessel:	n/a	chr8:117778564-117778580
14	RAD21	chr8:117778309-117778862	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr8:117777952-117778875	IMR90	lung:	n/a	n/a
16	CREB1	chr8:117778379-117779213	K562	blood:	n/a	n/a
17	CTCF	chr8:117778500-117778650	HVMF	connective:	n/a	chr8:117778564-117778580
18	CTCF	chr8:117778460-117778610	HMF	breast:	n/a	chr8:117778564-117778580
19	TBP	chr8:117777840-117778935	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr8:117778469-117778742	MCF-7	breast:	n/a	chr8:117778564-117778580
21	MAX	chr8:117777983-117779941	HCT-116	colon:	n/a	chr8:117779140-117779150 chr8:117779229-117779238 chr8:117779139-117779148 chr8:117779220-117779236 chr8:117779135-117779145 chr8:117779227-117779240
22	POLR2A	chr8:117777901-117779343	K562	blood:	n/a	n/a
23	CTCF	chr8:117778294-117778859	A549	lung:	n/a	chr8:117778564-117778580
24	CTCF	chr8:117778405-117778812	T-47D	breast:	n/a	chr8:117778564-117778580
25	CEBPD	chr8:117777873-117779007	K562	blood:	n/a	n/a
26	CTCF	chr8:117778480-117778630	GM12866	blood:	n/a	chr8:117778564-117778580
27	CHD2	chr8:117778348-117779137	Hela-S3	cervix:	n/a	chr8:117778736-117778743
28	ZMIZ1	chr8:117777747-117778990	K562	blood:	n/a	n/a
29	CTCF	chr8:117778500-117778650	SK-N-SH_RA	brain:	n/a	chr8:117778564-117778580
30	SIN3AK20	chr8:117777881-117780032	MCF-7	breast:	n/a	n/a
31	NFATC1	chr8:117778125-117778803	GM12878	blood:	n/a	n/a
32	FOXA1	chr8:117778424-117778996	HepG2	liver:	n/a	n/a
33	CTCF	chr8:117778540-117778690	AG09309	skin:	n/a	chr8:117778564-117778580
34	CTCF	chr8:117777773-117779942	A549	lung:	n/a	chr8:117778564-117778580
35	SIN3AK20	chr8:117778515-117779308	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:117778540-117778690	HCFaa	heart:	n/a	chr8:117778564-117778580
37	EP300	chr8:117777997-117778619	K562	blood:	n/a	chr8:117778340-117778354
38	CTCF	chr8:117778500-117778650	HAc	cerebellar:	n/a	chr8:117778564-117778580
39	CTCF	chr8:117778474-117778733	GM13977	blood:	n/a	chr8:117778564-117778580
40	POLR2A	chr8:117777819-117779058	PANC-1	pancreas:	n/a	n/a
41	CTCF	chr8:117778460-117778610	GM12872	blood:	n/a	chr8:117778564-117778580
42	TAF1	chr8:117778159-117779169	A549	lung:	n/a	n/a
43	JUND	chr8:117778488-117779003	A549	lung:	n/a	n/a
44	TAF1	chr8:117778542-117778932	GM12892	blood:	n/a	n/a
45	CTCF	chr8:117778480-117778630	GM12873	blood:	n/a	chr8:117778564-117778580
46	PAX5	chr8:117778411-117779235	GM12878	blood:	n/a	chr8:117778806-117778824
47	POLR2A	chr8:117778321-117778969	HepG2	liver:	n/a	n/a
48	RFX5	chr8:117778316-117778888	GM12878	blood:	n/a	n/a
49	CTCF	chr8:117778455-117778768	GM12892	blood:	n/a	chr8:117778564-117778580
50	CTCF	chr8:117778450-117778764	A549	lung:	n/a	chr8:117778564-117778580

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:117778558-117778608	U87	brain:	n/a
2	chr8:117778582-117778632	ovcar-3	ovarian:	n/a
3	chr8:117778558-117778608	PANC-1	pancreas:	n/a
4	chr8:117778558-117778608	NB4	blood:	n/a
5	chr8:117778558-117778608	MCF10A-Er-Src	breast:	n/a
6	chr8:117778558-117778608	HCT-116	colon:	n/a
7	chr8:117778582-117778632	SKMC	muscle:	n/a
8	chr8:117778558-117778608	BE2_C	brain:	n/a
9	chr8:117778582-117778632	HIPEpiC	eye:	n/a
10	chr8:117778582-117778632	HNPCEpiC	eye:	n/a
11	chr8:117778558-117778608	HRCEpiC	kidney:	n/a
12	chr8:117778558-117778608	HepG2	liver:	n/a
13	chr8:117778558-117778608	HRPEpiC	eye:	n/a
14	chr8:117778558-117778608	AG04450	lung:	fetal
15	chr8:117778582-117778632	ProgFib	skin:	n/a
16	chr8:117778582-117778632	HUVEC	blood vessel:	n/a
17	chr8:117778558-117778608	HCM	heart:	n/a
18	chr8:117778558-117778608	ProgFib	skin:	n/a
19	chr8:117778582-117778632	AG09309	skin:	n/a
20	chr8:117778558-117778608	PrEC	prostate:	n/a
21	chr8:117778582-117778632	AG10803	skin:	n/a
22	chr8:117778558-117778608	PFSK-1	brain:	n/a
23	chr8:117778558-117778608	H1-hESC	embryonic stem cell:	embryo
24	chr8:117778582-117778632	GM19239	blood:	n/a
25	chr8:117778558-117778608	LNCaP	prostate:	n/a
26	chr8:117778558-117778608	Caco-2	colon:	n/a
27	chr8:117778582-117778632	SK-N-SH_RA	brain:	n/a
28	chr8:117778582-117778632	Hela-S3	cervix:	n/a
29	chr8:117778582-117778632	AG09319	gingival:	n/a
30	chr8:117778582-117778632	HMEC	breast:	n/a
31	chr8:117778558-117778608	AG09319	gingival:	n/a
32	chr8:117778558-117778608	HIPEpiC	eye:	n/a
33	chr8:117778582-117778632	T-47D	breast:	n/a
34	chr8:117778582-117778632	SAEC	small airway:	n/a
35	chr8:117778558-117778608	AoSMC	blood vessel:	n/a
36	chr8:117778582-117778632	A549	lung:	n/a
37	chr8:117778582-117778632	BJ	skin:	n/a
38	chr8:117778558-117778608	NHDF-neo	bronchial:	n/a
39	chr8:117778558-117778608	CMK	blood:	n/a
40	chr8:117778558-117778608	SKMC	muscle:	n/a
41	chr8:117778558-117778608	GM06990	blood:	n/a
42	chr8:117778582-117778632	NH-A	brain:	n/a
43	chr8:117778582-117778632	PANC-1	pancreas:	n/a
44	chr8:117778582-117778632	Caco-2	colon:	n/a
45	chr8:117778558-117778608	MCF-7	breast:	n/a
46	chr8:117778558-117778608	Jurkat	blood:	n/a
47	chr8:117778558-117778608	ovcar-3	ovarian:	n/a
48	chr8:117778582-117778632	HCM	heart:	n/a
49	chr8:117778558-117778608	SK-N-MC	brain:	n/a
50	chr8:117778558-117778608	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117776578..117778707-chr8:117885688..117887716,2	MCF-7	breast:
2	chr4:140222171..140222709-chr8:117778252..117779117,2	HCT-116	colon:
3	chr12:57118762..57119531-chr8:117778258..117779135,2	Hela-S3	cervix:
4	chr8:117767454..117768307-chr8:117778310..117778850,2	MCF-7	breast:
5	chr11:126173362..126174164-chr8:117778460..117779006,2	HCT-116	colon:
6	chr8:117777450..117780279-chr8:117883824..117887176,3	MCF-7	breast:
7	chr6:89789995..89790939-chr8:117778176..117779005,2	Hela-S3	cervix:
8	chr8:117767652..117768643-chr8:117778086..117778751,2	MCF-7	breast:
9	chr8:117775214..117779057-chr8:117886515..117888588,5	K562	blood:
10	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:
11	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
UTP23	TF binding region
EIF3H	TF binding region
UTP23	CpG island
EIF3H	CpG island
ENSG00000146278	Chromatin interaction
ENSG00000271931	Chromatin interaction
ENSG00000164134	Chromatin interaction
ENSG00000109390	Chromatin interaction
ENSG00000264875	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000110063	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087312	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10105870	0.98[EUR][1000 genomes]
rs10112726	0.98[EUR][1000 genomes]
rs10505289	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1133950	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888613	0.91[CEU][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes]
rs16888689	0.91[AMR][1000 genomes]
rs28554010	0.98[EUR][1000 genomes]
rs4492407	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4602925	0.95[YRI][hapmap];0.91[AMR][1000 genomes]
rs59540933	0.91[EUR][1000 genomes]
rs60927118	0.98[EUR][1000 genomes]
rs67123278	0.96[EUR][1000 genomes]
rs7004565	0.81[EUR][1000 genomes]
rs921066	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv824724	chr8:117778576-117779165	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117777400-117779200	Active TSS	Liver	Liver
2	chr8:117777600-117779200	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:117777600-117779400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:117777600-117779400	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:117777600-117779600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:117777600-117779800	Active TSS	A549	lung
7	chr8:117777800-117778800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr8:117777800-117779400	Active TSS	Brain Anterior Caudate	brain
9	chr8:117777800-117779400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:117777800-117779400	Active TSS	Colonic Mucosa	Colon
11	chr8:117777800-117779400	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:117777800-117779600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:117777800-117779600	Active TSS	Brain Hippocampus Middle	brain
14	chr8:117777800-117779600	Active TSS	Ovary	ovary
15	chr8:117777800-117779600	Active TSS	Psoas Muscle	Psoas
16	chr8:117777800-117780000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:117778000-117778800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:117778000-117778800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:117778000-117778800	Active TSS	Fetal Brain Female	brain
20	chr8:117778000-117779000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:117778000-117779200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:117778000-117779200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr8:117778000-117779200	Active TSS	Fetal Lung	lung
24	chr8:117778000-117779200	Active TSS	Thymus	Thymus
25	chr8:117778000-117779400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:117778000-117779400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:117778000-117779400	Active TSS	Brain Angular Gyrus	brain
28	chr8:117778000-117779400	ZNF genes & repeats	Fetal Brain Male	brain
29	chr8:117778000-117779400	Active TSS	Fetal Heart	heart
30	chr8:117778000-117779400	Active TSS	Placenta	Placenta
31	chr8:117778000-117779400	Active TSS	Right Ventricle	heart
32	chr8:117778000-117779400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:117778000-117779400	Active TSS	Spleen	Spleen
34	chr8:117778000-117779600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr8:117778000-117779600	Active TSS	Aorta	Aorta
36	chr8:117778000-117779600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:117778000-117779600	Active TSS	Gastric	stomach
38	chr8:117778000-117779600	Active TSS	Pancreas	Pancrea
39	chr8:117778000-117779600	Active TSS	Right Atrium	heart
40	chr8:117778000-117779600	Active TSS	HSMM	muscle
41	chr8:117778000-117779600	Active TSS	HSMMtube	muscle
42	chr8:117778000-117779800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr8:117778000-117779800	Active TSS	Fetal Intestine Small	intestine
44	chr8:117778000-117779800	Active TSS	Fetal Muscle Trunk	muscle
45	chr8:117778000-117779800	Active TSS	Lung	lung
46	chr8:117778000-117780000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:117778000-117780400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:117778000-117780600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:117778200-117779000	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr8:117778200-117779000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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