Variant report

Variant	rs7284670
Chromosome Location	chr22:29076149-29076150
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	RCOR1	chr22:29075951-29076156	HepG2	liver:	n/a	n/a
2	BHLHE40	chr22:29075834-29076370	HepG2	liver:	n/a	chr22:29076201-29076210 chr22:29076201-29076210 chr22:29076202-29076211
3	MXI1	chr22:29075986-29076246	Hela-S3	cervix:	n/a	n/a
4	MAX	chr22:29075886-29076236	H1-hESC	embryonic stem cell:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
5	TAF1	chr22:29075393-29076182	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr22:29075701-29076426	A549	lung:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
7	POLR2A	chr22:29075376-29076235	Hela-S3	cervix:	n/a	n/a
8	USF1	chr22:29076010-29076378	A549	lung:	n/a	chr22:29076201-29076210 chr22:29076201-29076210 chr22:29076202-29076211
9	YY1	chr22:29075590-29076190	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr22:29075738-29076240	HepG2	liver:	n/a	n/a
11	TAF1	chr22:29075154-29076292	HepG2	liver:	n/a	n/a
12	MAX	chr22:29075704-29076351	MCF-7	breast:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
13	POLR2A	chr22:29075629-29076169	HepG2	liver:	n/a	n/a
14	BHLHE40	chr22:29076134-29076273	A549	lung:	n/a	chr22:29076201-29076210 chr22:29076201-29076210 chr22:29076202-29076211
15	E2F6	chr22:29075500-29076367	K562	blood:	n/a	chr22:29076097-29076107
16	POLR2A	chr22:29075541-29076190	HepG2	liver:	n/a	n/a
17	YY1	chr22:29075613-29076175	SK-N-SH_RA	brain:	n/a	n/a
18	MAX	chr22:29075971-29076255	H1-hESC	embryonic stem cell:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
19	ZBTB7A	chr22:29075427-29076177	K562	blood:	n/a	n/a
20	JUND	chr22:29075679-29076189	HepG2	liver:	n/a	n/a
21	JUND	chr22:29075693-29076162	A549	lung:	n/a	n/a
22	EP300	chr22:29075714-29076367	HepG2	liver:	n/a	n/a
23	MAX	chr22:29075857-29076380	ECC-1	luminal epithelium:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
24	MXI1	chr22:29075167-29076486	IMR90	lung:	n/a	n/a
25	EP300	chr22:29075797-29076159	ECC-1	luminal epithelium:	n/a	n/a
26	YY1	chr22:29076027-29076223	K562	blood:	n/a	n/a
27	EP300	chr22:29075829-29076179	A549	lung:	n/a	n/a
28	RXRA	chr22:29075601-29076287	HepG2	liver:	n/a	n/a
29	E2F6	chr22:29075859-29076254	H1-hESC	embryonic stem cell:	n/a	chr22:29076097-29076107
30	JUND	chr22:29075799-29076159	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr22:29075626-29076262	A549	lung:	n/a	n/a
32	MYC	chr22:29075705-29076350	K562	blood:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
33	MAX	chr22:29075870-29076391	ECC-1	luminal epithelium:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
34	ZBTB33	chr22:29075802-29076179	A549	lung:	n/a	n/a
35	POLR2A	chr22:29075138-29076297	Hela-S3	cervix:	n/a	n/a
36	YY1	chr22:29075109-29076346	HepG2	liver:	n/a	chr22:29075358-29075372 chr22:29075215-29075229
37	MAX	chr22:29075963-29076354	SK-N-SH	brain:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
38	POLR2A	chr22:29075811-29076258	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr22:29075111-29076338	SK-N-MC	brain:	n/a	n/a
40	E2F6	chr22:29075571-29076232	K562	blood:	n/a	chr22:29076097-29076107
41	MXI1	chr22:29074829-29076393	SK-N-SH	brain:	n/a	n/a
42	CREB1	chr22:29075608-29076170	A549	lung:	n/a	n/a
43	EP300	chr22:29075821-29076376	A549	lung:	n/a	n/a
44	MYC	chr22:29076087-29076226	MCF-7	breast:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
45	E2F6	chr22:29075795-29076355	A549	lung:	n/a	chr22:29076097-29076107
46	MAX	chr22:29075818-29076337	A549	lung:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
47	HEY1	chr22:29075285-29076364	K562	blood:	n/a	chr22:29076201-29076210
48	HEY1	chr22:29075867-29076150	HepG2	liver:	n/a	n/a
49	MAX	chr22:29075696-29076346	SK-N-SH	brain:	n/a	chr22:29076201-29076210 chr22:29076200-29076211 chr22:29076199-29076212
50	EP300	chr22:29075811-29076189	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29076113-29076163	HRE	kidney:	n/a
2	chr22:29076113-29076163	SK-N-MC	brain:	n/a
3	chr22:29076113-29076163	GM12892	blood:	n/a
4	chr22:29076113-29076163	H1-hESC	embryonic stem cell:	embryo
5	chr22:29076113-29076163	Caco-2	colon:	n/a
6	chr22:29076113-29076163	HepG2	liver:	n/a
7	chr22:29076113-29076163	IMR90	lung:	fetal
8	chr22:29076113-29076163	HEEpiC	esophagus:	n/a
9	chr22:29076113-29076163	Jurkat	blood:	n/a
10	chr22:29076113-29076163	GM06990	blood:	n/a
11	chr22:29076113-29076163	HAEpiC	amniotic membrane:	n/a
12	chr22:29076113-29076163	HIPEpiC	eye:	n/a
13	chr22:29076113-29076163	PrEC	prostate:	n/a
14	chr22:29076113-29076163	PFSK-1	brain:	n/a
15	chr22:29076113-29076163	SKMC	muscle:	n/a
16	chr22:29076113-29076163	GM12891	blood:	n/a
17	chr22:29076113-29076163	T-47D	breast:	n/a
18	chr22:29076113-29076163	PANC-1	pancreas:	n/a
19	chr22:29076113-29076163	HCPEpiC	choroid plexus:	n/a
20	chr22:29076113-29076163	MCF10A-Er-Src	breast:	n/a
21	chr22:29076113-29076163	K562	blood:	n/a
22	chr22:29076113-29076163	NHBE	bronchial:	n/a
23	chr22:29076113-29076163	NH-A	brain:	n/a
24	chr22:29076113-29076163	SK-N-SH_RA	brain:	n/a
25	chr22:29076113-29076163	U87	brain:	n/a
26	chr22:29076113-29076163	HUVEC	blood vessel:	n/a
27	chr22:29076113-29076163	HL-60	blood:	n/a
28	chr22:29076113-29076163	ProgFib	skin:	n/a
29	chr22:29076113-29076163	ECC-1	luminal epithelium:	n/a
30	chr22:29076113-29076163	HCF	heart:	n/a
31	chr22:29076113-29076163	BJ	skin:	n/a
32	chr22:29076113-29076163	AG09309	skin:	n/a
33	chr22:29076113-29076163	HCM	heart:	n/a
34	chr22:29076113-29076163	HMEC	breast:	n/a
35	chr22:29076113-29076163	GM12878	blood:	n/a
36	chr22:29076113-29076163	AoSMC	blood vessel:	n/a
37	chr22:29076113-29076163	BE2_C	brain:	n/a
38	chr22:29076113-29076163	HNPCEpiC	eye:	n/a
39	chr22:29076113-29076163	ovcar-3	ovarian:	n/a
40	chr22:29076113-29076163	A549	lung:	n/a
41	chr22:29076113-29076163	RPTEC	kidney:	n/a
42	chr22:29076113-29076163	AG04450	lung:	fetal
43	chr22:29076113-29076163	AG10803	skin:	n/a
44	chr22:29076113-29076163	SK-N-SH	brain:	n/a
45	chr22:29076113-29076163	SAEC	small airway:	n/a
46	chr22:29076113-29076163	HEK293	kidney:	embryo
47	chr22:29076113-29076163	NHDF-neo	bronchial:	n/a
48	chr22:29076113-29076163	HRCEpiC	kidney:	n/a
49	chr22:29076113-29076163	LNCaP	prostate:	n/a
50	chr22:29076113-29076163	AG09319	gingival:	n/a

Variant related genes	Relation type
TTC28	TF binding region
TTC28	CpG island

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10084639	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10222318	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12165489	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12165893	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12166245	0.83[EUR][1000 genomes]
rs12167434	0.81[AFR][1000 genomes]
rs12168031	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12168765	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12169120	0.81[AFR][1000 genomes]
rs12169262	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12169460	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12169880	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12171099	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28818228	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58049055	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58542867	0.82[EUR][1000 genomes]
rs60065194	0.83[EUR][1000 genomes]
rs60248971	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60693420	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6519758	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7288792	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7289534	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7293232	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73430179	0.83[EUR][1000 genomes]
rs73432205	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8135424	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8136767	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8136905	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8136995	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9620808	0.81[EUR][1000 genomes]
rs9620810	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9620811	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625498	0.81[EUR][1000 genomes]
rs9625509	0.82[EUR][1000 genomes]
rs9625512	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625513	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625514	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625518	0.83[EUR][1000 genomes]
rs9625520	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625521	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625522	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625523	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9625524	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv966098	chr22:29069640-29088208	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv966097	chr22:29069640-29092062	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1832949	chr22:29072426-29092190	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1806615	chr22:29072426-29095085	Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1828355	chr22:29072426-29095085	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1843637	chr22:29072426-29095085	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1832454	chr22:29074021-29094885	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29074200-29076400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29074400-29076400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:29074400-29076400	Active TSS	Brain Angular Gyrus	brain
4	chr22:29074400-29076400	Active TSS	Fetal Brain Female	brain
5	chr22:29074400-29076400	Active TSS	Hela-S3	cervix
6	chr22:29074400-29076400	Active TSS	NHDF-Ad	bronchial
7	chr22:29074400-29076600	Active TSS	Brain Anterior Caudate	brain
8	chr22:29074600-29076200	Active TSS	Fetal Lung	lung
9	chr22:29074600-29076400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:29074600-29076400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:29074600-29076400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:29074600-29076400	Active TSS	Ovary	ovary
13	chr22:29074600-29076400	Active TSS	A549	lung
14	chr22:29074600-29076400	Active TSS	HUVEC	blood vessel
15	chr22:29074600-29076400	Active TSS	NHLF	lung
16	chr22:29074600-29076400	Active TSS	Osteobl	bone
17	chr22:29074600-29076600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:29074600-29076600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:29074600-29076800	Active TSS	Colon Smooth Muscle	Colon
20	chr22:29074800-29076200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:29074800-29076200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr22:29074800-29076400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr22:29074800-29076400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr22:29074800-29076400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:29074800-29076400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr22:29074800-29076400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr22:29074800-29076400	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr22:29074800-29076400	Active TSS	Aorta	Aorta
29	chr22:29074800-29076400	Active TSS	Brain Cingulate Gyrus	brain
30	chr22:29074800-29076400	Active TSS	Brain Hippocampus Middle	brain
31	chr22:29074800-29076400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:29074800-29076400	Active TSS	Brain Substantia Nigra	brain
33	chr22:29074800-29076400	Active TSS	Duodenum Mucosa	Duodenum
34	chr22:29074800-29076400	Active TSS	Fetal Intestine Large	intestine
35	chr22:29074800-29076400	Active TSS	Fetal Kidney	kidney
36	chr22:29074800-29076400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr22:29074800-29076400	Active TSS	Lung	lung
38	chr22:29074800-29076400	Active TSS	Psoas Muscle	Psoas
39	chr22:29074800-29076400	Active TSS	Right Atrium	heart
40	chr22:29074800-29076400	Active TSS	HSMMtube	muscle
41	chr22:29075000-29076200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr22:29075000-29076200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:29075000-29076200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:29075000-29076200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr22:29075000-29076200	Active TSS	Esophagus	oesophagus
46	chr22:29075000-29076400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:29075000-29076400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr22:29075000-29076400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr22:29075000-29076400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr22:29075000-29076400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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