Variant report

Variant	rs59919818
Chromosome Location	chr1:46597941-46597942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46597929-46598588	GM12878	blood:	n/a	n/a
2	CBX3	chr1:46597846-46599310	K562	blood:	n/a	n/a
3	POLR2A	chr1:46597328-46599465	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:46597226-46599439	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr1:46597329-46598611	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:46597267-46599352	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:46597625-46599494	ECC-1	luminal epithelium:	n/a	n/a
8	UBTF	chr1:46597325-46599320	K562	blood:	n/a	n/a
9	POLR2A	chr1:46597697-46599402	K562	blood:	n/a	n/a
10	TBP	chr1:46596893-46599072	Hela-S3	cervix:	n/a	n/a
11	RELA	chr1:46597848-46599324	GM19099	blood:	n/a	n/a
12	SMARCC2	chr1:46597338-46598722	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:46597936-46599449	HUVEC	blood vessel:	n/a	n/a
14	GTF2F1	chr1:46597929-46599327	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:46597834-46599491	GM12892	blood:	n/a	n/a
16	SIN3A	chr1:46597078-46599412	H1-hESC	embryonic stem cell:	n/a	chr1:46598597-46598606
17	POLR2A	chr1:46596953-46600001	GM12891	blood:	n/a	n/a
18	EP300	chr1:46597416-46598999	K562	blood:	n/a	chr1:46598803-46598812 chr1:46597493-46597507 chr1:46598799-46598815 chr1:46598014-46598028 chr1:46598801-46598810
19	CBX3	chr1:46597893-46599305	HCT-116	colon:	n/a	n/a
20	BRCA1	chr1:46597463-46599014	Hela-S3	cervix:	n/a	n/a
21	MYC	chr1:46597782-46599077	MCF10A-Er-Src	breast:	n/a	n/a
22	NFIC	chr1:46597778-46599322	GM12878	blood:	n/a	n/a
23	PML	chr1:46597933-46599056	K562	blood:	n/a	n/a
24	SMC3	chr1:46597740-46599301	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:46597831-46599281	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:46597463-46599441	MCF-7	breast:	n/a	n/a
27	MYC	chr1:46597499-46599268	K562	blood:	n/a	n/a
28	JUND	chr1:46597394-46599232	K562	blood:	n/a	chr1:46598786-46598795
29	FOS	chr1:46597880-46598029	MCF10A-Er-Src	breast:	n/a	n/a
30	ZBTB7A	chr1:46597851-46598701	ECC-1	luminal epithelium:	n/a	chr1:46598424-46598431
31	POLR2A	chr1:46597420-46599368	GM12878	blood:	n/a	n/a
32	FOXM1	chr1:46597864-46599458	GM12878	blood:	n/a	n/a
33	SIN3A	chr1:46597704-46599225	GM12878	blood:	n/a	chr1:46598597-46598606
34	MAX	chr1:46597319-46599365	SK-N-SH	brain:	n/a	n/a
35	CHD1	chr1:46597471-46598735	H1-hESC	embryonic stem cell:	n/a	chr1:46598349-46598359
36	TAF7	chr1:46597894-46598790	H1-hESC	embryonic stem cell:	n/a	n/a
37	STAT5A	chr1:46597707-46598795	GM12878	blood:	n/a	chr1:46598347-46598359
38	MAX	chr1:46597921-46599337	H1-hESC	embryonic stem cell:	n/a	n/a
39	KAP1	chr1:46597897-46599164	HEK293	kidney:	n/a	n/a
40	TBL1XR1	chr1:46597719-46599070	K562	blood:	n/a	n/a
41	SIN3AK20	chr1:46597670-46598341	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:46597925-46598544	HUVEC	blood vessel:	n/a	n/a
43	RELA	chr1:46597414-46599312	GM18505	blood:	n/a	chr1:46597737-46597746 chr1:46597737-46597746
44	MAZ	chr1:46597938-46599286	K562	blood:	n/a	n/a
45	POLR2A	chr1:46597624-46599426	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:46597460-46599379	GM18951	blood:	n/a	n/a
47	SIN3AK20	chr1:46597880-46599466	MCF-7	breast:	n/a	n/a
48	TCF12	chr1:46597864-46599398	ECC-1	luminal epithelium:	n/a	chr1:46598404-46598414
49	TEAD4	chr1:46597287-46599324	K562	blood:	n/a	n/a
50	MAFK	chr1:46597899-46598616	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46597933-46597983	AG10803	skin:	n/a
2	chr1:46597933-46597983	HIPEpiC	eye:	n/a
3	chr1:46597933-46597983	PANC-1	pancreas:	n/a
4	chr1:46597933-46597983	IMR90	lung:	fetal
5	chr1:46597933-46597983	LNCaP	prostate:	n/a
6	chr1:46597933-46597983	SK-N-MC	brain:	n/a
7	chr1:46597933-46597983	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:46597933-46597983	BE2_C	brain:	n/a
9	chr1:46597933-46597983	ECC-1	luminal epithelium:	n/a
10	chr1:46597933-46597983	CMK	blood:	n/a
11	chr1:46597933-46597983	AoSMC	blood vessel:	n/a
12	chr1:46597933-46597983	RPTEC	kidney:	n/a
13	chr1:46597933-46597983	AG04450	lung:	fetal
14	chr1:46597933-46597983	PFSK-1	brain:	n/a
15	chr1:46597933-46597983	HNPCEpiC	eye:	n/a
16	chr1:46597933-46597983	NH-A	brain:	n/a
17	chr1:46597933-46597983	K562	blood:	n/a
18	chr1:46597933-46597983	BJ	skin:	n/a
19	chr1:46597933-46597983	HEEpiC	esophagus:	n/a
20	chr1:46597933-46597983	Jurkat	blood:	n/a
21	chr1:46597933-46597983	ProgFib	skin:	n/a
22	chr1:46597933-46597983	ovcar-3	ovarian:	n/a
23	chr1:46597933-46597983	HRPEpiC	eye:	n/a
24	chr1:46597933-46597983	PrEC	prostate:	n/a
25	chr1:46597933-46597983	A549	lung:	n/a
26	chr1:46597933-46597983	U87	brain:	n/a
27	chr1:46597933-46597983	Hela-S3	cervix:	n/a
28	chr1:46597933-46597983	H1-hESC	embryonic stem cell:	embryo
29	chr1:46597933-46597983	Hepatocyte	liver:	n/a
30	chr1:46597933-46597983	Caco-2	colon:	n/a
31	chr1:46597933-46597983	HMEC	breast:	n/a
32	chr1:46597933-46597983	AG09319	gingival:	n/a
33	chr1:46597933-46597983	HCM	heart:	n/a
34	chr1:46597933-46597983	GM12892	blood:	n/a
35	chr1:46597933-46597983	HL-60	blood:	n/a
36	chr1:46597933-46597983	SAEC	small airway:	n/a
37	chr1:46597933-46597983	HUVEC	blood vessel:	n/a
38	chr1:46597933-46597983	T-47D	breast:	n/a
39	chr1:46597933-46597983	MCF10A-Er-Src	breast:	n/a
40	chr1:46597933-46597983	MCF-7	breast:	n/a
41	chr1:46597933-46597983	SK-N-SH	brain:	n/a
42	chr1:46597933-46597983	GM19239	blood:	n/a
43	chr1:46597933-46597983	HRCEpiC	kidney:	n/a
44	chr1:46597933-46597983	GM12891	blood:	n/a
45	chr1:46597933-46597983	NHBE	bronchial:	n/a
46	chr1:46597933-46597983	NB4	blood:	n/a
47	chr1:46597933-46597983	AG04449	skin:	fetal
48	chr1:46597933-46597983	HEK293	kidney:	embryo
49	chr1:46597933-46597983	HCT-116	colon:	n/a
50	chr1:46597933-46597983	GM12878	blood:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46597863..46598757-chr12:123011345..123012154,2	Hela-S3	cervix:
2	chr1:46596666..46599509-chr1:46766938..46769166,2	K562	blood:
3	chr1:46597687..46601092-chr1:46685533..46687921,3	MCF-7	breast:
4	chr1:46596732..46600061-chr1:46639198..46641036,3	K562	blood:
5	chr1:46596539..46599415-chr1:46667478..46670320,3	K562	blood:
6	chr1:46567302..46569021-chr1:46595587..46598185,2	K562	blood:
7	chr1:46597632..46598470-chr10:121631446..121632337,2	Hela-S3	cervix:
8	chr1:46596990..46600235-chr1:46653510..46656266,3	K562	blood:
9	chr1:46597859..46598700-chr11:10830008..10830769,2	Hela-S3	cervix:
10	chr1:46597652..46598320-chr3:152879976..152880655,2	Hela-S3	cervix:
11	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
12	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
13	chr1:46498806..46500907-chr1:46597285..46600123,2	MCF-7	breast:
14	chr1:46596515..46598291-chr1:46713068..46714767,2	K562	blood:
15	chr1:46511778..46513975-chr1:46596807..46598312,2	K562	blood:
16	chr1:46595820..46599539-chr1:46766607..46769915,4	K562	blood:
17	chr1:46590920..46606215-chr1:46630948..46642525,66	MCF-7	breast:
18	chr1:46515960..46517550-chr1:46595365..46597989,2	K562	blood:
19	chr1:46595304..46602065-chr1:46660247..46665309,8	MCF-7	breast:
20	chr1:46597385..46598368-chr2:10183097..10184184,3	Hela-S3	cervix:
21	chr1:46597553..46598251-chr2:178076942..178077564,2	Hela-S3	cervix:
22	chr1:46565920..46568802-chr1:46595587..46598094,2	K562	blood:
23	chr1:46597413..46599611-chr12:6976229..6978931,2	K562	blood:
24	chr1:46596689..46599415-chr1:46667615..46670320,3	K562	blood:
25	chr1:46597527..46598293-chr10:70715434..70716422,2	Hela-S3	cervix:
26	chr1:46597745..46598544-chr14:92506141..92506642,2	Hela-S3	cervix:
27	chr1:46498325..46500159-chr1:46595927..46599001,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227857	TF binding region
ENSG00000227857	CpG island
ENSG00000170144	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000181467	Chromatin interaction
ENSG00000171357	Chromatin interaction
ENSG00000226957	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000165732	Chromatin interaction
ENSG00000085998	Chromatin interaction
ENSG00000117472	Chromatin interaction
ENSG00000100815	Chromatin interaction
ENSG00000197771	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000086015	Chromatin interaction
ENSG00000250719	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17102066	1.00[AMR][1000 genomes]
rs2275425	1.00[AMR][1000 genomes]
rs28363193	1.00[AMR][1000 genomes]
rs41378047	1.00[AMR][1000 genomes]
rs4297232	1.00[AMR][1000 genomes]
rs57121950	1.00[AMR][1000 genomes]
rs57959845	1.00[AMR][1000 genomes]
rs57991520	1.00[AMR][1000 genomes]
rs58888694	1.00[AMR][1000 genomes]
rs59669845	1.00[AMR][1000 genomes]
rs59768249	1.00[AMR][1000 genomes]
rs59974520	1.00[AMR][1000 genomes]
rs60411062	1.00[AMR][1000 genomes]
rs60789947	1.00[AMR][1000 genomes]
rs60933200	1.00[AMR][1000 genomes]
rs61178863	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
7	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1012418	chr1:46544842-46619890	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv534948	chr1:46544842-46619890	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46593400-46598200	Active TSS	Right Atrium	heart
2	chr1:46594000-46599000	Active TSS	Right Ventricle	heart
3	chr1:46594000-46599200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:46594000-46599200	Active TSS	Psoas Muscle	Psoas
5	chr1:46594000-46599400	Active TSS	Left Ventricle	heart
6	chr1:46594600-46599200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:46594600-46599400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:46594800-46599200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:46594800-46599400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:46595000-46599200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:46595200-46599200	Active TSS	Colon Smooth Muscle	Colon
12	chr1:46595200-46599200	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:46595200-46599400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:46595200-46599400	Active TSS	Fetal Heart	heart
15	chr1:46595200-46599400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:46595200-46599600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:46595400-46599000	Active TSS	Duodenum Mucosa	Duodenum
18	chr1:46595400-46599000	Active TSS	HMEC	breast
19	chr1:46595400-46599000	Active TSS	K562	blood
20	chr1:46595400-46599200	Active TSS	Fetal Brain Male	brain
21	chr1:46595400-46599200	Active TSS	Fetal Lung	lung
22	chr1:46595400-46599200	Active TSS	NH-A	brain
23	chr1:46595400-46599400	Active TSS	Brain Anterior Caudate	brain
24	chr1:46595400-46599600	Active TSS	Fetal Kidney	kidney
25	chr1:46595600-46599200	Active TSS	Brain Hippocampus Middle	brain
26	chr1:46595600-46599200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:46595600-46599200	Active TSS	Fetal Brain Female	brain
28	chr1:46595600-46599200	Active TSS	GM12878-XiMat	blood
29	chr1:46595600-46599200	Active TSS	Hela-S3	cervix
30	chr1:46595600-46599400	Active TSS	Brain Angular Gyrus	brain
31	chr1:46595800-46599000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:46595800-46599000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:46595800-46599000	Active TSS	Osteobl	bone
34	chr1:46595800-46599200	Active TSS	Fetal Muscle Leg	muscle
35	chr1:46595800-46599200	Active TSS	Fetal Stomach	stomach
36	chr1:46595800-46599200	Active TSS	Ovary	ovary
37	chr1:46595800-46599200	Active TSS	NHLF	lung
38	chr1:46595800-46599400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:46595800-46599400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:46595800-46599600	Active TSS	HSMMtube	muscle
41	chr1:46596000-46599000	Active TSS	HSMM	muscle
42	chr1:46596000-46599200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:46596000-46599200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:46596000-46599600	Active TSS	Fetal Intestine Large	intestine
45	chr1:46596000-46599600	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:46596200-46598400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:46596200-46599000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:46596200-46599200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:46596200-46599200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:46596200-46599200	Active TSS	Brain Substantia Nigra	brain

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