Variant report

Variant	rs370596602
Chromosome Location	chr1:59248686-59248687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:61)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:59248601-59251387	HepG2	liver:	n/a	chr1:59249776-59249789
2	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
3	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
4	MAX	chr1:59247473-59251323	GM12878	blood:	n/a	chr1:59249843-59249852
5	POLR2A	chr1:59247151-59251494	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:59247903-59249799	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr1:59248544-59248745	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:59247671-59250698	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
10	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
11	CHD2	chr1:59248183-59248783	K562	blood:	n/a	n/a
12	POLR2A	chr1:59247234-59250280	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr1:59246437-59251188	K562	blood:	n/a	chr1:59250260-59250275 chr1:59249195-59249210
14	POLR2A	chr1:59244614-59251725	HUVEC	blood vessel:	n/a	n/a
15	EP300	chr1:59248663-59251896	SK-N-SH	brain:	n/a	chr1:59250255-59250264 chr1:59249191-59249207 chr1:59249176-59249192 chr1:59250260-59250276 chr1:59251787-59251800 chr1:59249125-59249134 chr1:59249576-59249590 chr1:59250316-59250323 chr1:59249489-59249505
16	TCF12	chr1:59248641-59251958	SK-N-SH	brain:	n/a	chr1:59249475-59249485 chr1:59251331-59251338 chr1:59249498-59249508
17	POLR2A	chr1:59247171-59251601	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr1:59248216-59249144	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZKSCAN1	chr1:59247347-59250548	Hela-S3	cervix:	n/a	n/a
20	MAX	chr1:59247373-59250292	H1-hESC	embryonic stem cell:	n/a	chr1:59249843-59249852
21	POLR2A	chr1:59247146-59251217	HepG2	liver:	n/a	n/a
22	E2F6	chr1:59248647-59249208	K562	blood:	n/a	chr1:59249126-59249136 chr1:59248831-59248840
23	POLR2A	chr1:59244523-59251294	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:59245241-59249887	K562	blood:	n/a	n/a
25	POLR2A	chr1:59247451-59251336	GM12892	blood:	n/a	n/a
26	RAD21	chr1:59247406-59252535	IMR90	lung:	n/a	chr1:59249492-59249505 chr1:59250252-59250265 chr1:59249113-59249126
27	TAF7	chr1:59247674-59250323	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr1:59248060-59248815	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:59247048-59251502	GM12892	blood:	n/a	n/a
30	POLR2A	chr1:59248316-59248757	K562	blood:	n/a	n/a
31	CCNT2	chr1:59247344-59251139	K562	blood:	n/a	chr1:59251021-59251030 chr1:59251014-59251023 chr1:59249183-59249192
32	HA-E2F1	chr1:59247977-59249198	Hela-S3	cervix:	n/a	chr1:59249126-59249136 chr1:59248831-59248840
33	BHLHE40	chr1:59247406-59250244	GM12878	blood:	n/a	chr1:59249401-59249417 chr1:59248756-59248769 chr1:59249198-59249214 chr1:59249193-59249209 chr1:59249190-59249206
34	MXI1	chr1:59247319-59251329	HepG2	liver:	n/a	chr1:59249837-59249852
35	POLR2A	chr1:59247252-59251594	GM18526	blood:	n/a	n/a
36	POLR2A	chr1:59247177-59251727	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:59247969-59251399	MCF-7	breast:	n/a	n/a
38	SIN3AK20	chr1:59248543-59251753	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:59247224-59251822	SK-N-SH	brain:	n/a	chr1:59250074-59250087 chr1:59249491-59249504 chr1:59248879-59248892 chr1:59249282-59249298 chr1:59250251-59250264 chr1:59249283-59249296 chr1:59248833-59248846
40	E2F4	chr1:59248562-59249218	MCF10A-Er-Src	breast:	n/a	chr1:59249126-59249136 chr1:59249200-59249210 chr1:59248574-59248586 chr1:59248831-59248840
41	POLR2A	chr1:59244682-59251438	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr1:59248326-59250356	H1-neurons	neurons:	n/a	n/a
43	MAX	chr1:59245600-59251175	HepG2	liver:	n/a	chr1:59249843-59249852
44	POLR2A	chr1:59247115-59251277	HEK293	kidney:	n/a	n/a
45	POLR2A	chr1:59243686-59251714	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:59247955-59248734	A549	lung:	n/a	n/a
47	POLR2A	chr1:59248643-59248876	SK-N-SH	brain:	n/a	n/a
48	STAT3	chr1:59248671-59248921	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:59247201-59251418	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr1:59247217-59249315	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59248673-59248723	BJ	skin:	n/a
2	chr1:59248673-59248723	H1-hESC	embryonic stem cell:	embryo
3	chr1:59248673-59248723	NT2-D1	testis:	n/a
4	chr1:59248673-59248723	BE2_C	brain:	n/a
5	chr1:59248673-59248723	T-47D	breast:	n/a
6	chr1:59248673-59248723	SAEC	small airway:	n/a
7	chr1:59248673-59248723	Hela-S3	cervix:	n/a
8	chr1:59248673-59248723	CMK	blood:	n/a
9	chr1:59248673-59248723	HCT-116	colon:	n/a
10	chr1:59248673-59248723	HRE	kidney:	n/a
11	chr1:59248673-59248723	HNPCEpiC	eye:	n/a
12	chr1:59248673-59248723	HCF	heart:	n/a
13	chr1:59248673-59248723	GM12891	blood:	n/a
14	chr1:59248673-59248723	MCF-7	breast:	n/a
15	chr1:59248673-59248723	LNCaP	prostate:	n/a
16	chr1:59248673-59248723	NHDF-neo	bronchial:	n/a
17	chr1:59248673-59248723	Jurkat	blood:	n/a
18	chr1:59248673-59248723	SK-N-SH_RA	brain:	n/a
19	chr1:59248673-59248723	AG09319	gingival:	n/a
20	chr1:59248673-59248723	GM12878	blood:	n/a
21	chr1:59248673-59248723	NHBE	bronchial:	n/a
22	chr1:59248673-59248723	HRCEpiC	kidney:	n/a
23	chr1:59248673-59248723	AG10803	skin:	n/a
24	chr1:59248673-59248723	HMEC	breast:	n/a
25	chr1:59248673-59248723	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:59248673-59248723	HUVEC	blood vessel:	n/a
27	chr1:59248673-59248723	GM12892	blood:	n/a
28	chr1:59248673-59248723	PFSK-1	brain:	n/a
29	chr1:59248673-59248723	HEK293	kidney:	embryo
30	chr1:59248673-59248723	PrEC	prostate:	n/a
31	chr1:59248673-59248723	AG04449	skin:	fetal
32	chr1:59248673-59248723	HCPEpiC	choroid plexus:	n/a
33	chr1:59248673-59248723	HCM	heart:	n/a
34	chr1:59248673-59248723	HIPEpiC	eye:	n/a
35	chr1:59248673-59248723	RPTEC	kidney:	n/a
36	chr1:59248673-59248723	SK-N-MC	brain:	n/a
37	chr1:59248673-59248723	ECC-1	luminal epithelium:	n/a
38	chr1:59248673-59248723	PANC-1	pancreas:	n/a
39	chr1:59248673-59248723	Hepatocyte	liver:	n/a
40	chr1:59248673-59248723	HepG2	liver:	n/a
41	chr1:59248673-59248723	HL-60	blood:	n/a
42	chr1:59248673-59248723	AG04450	lung:	fetal
43	chr1:59248673-59248723	NH-A	brain:	n/a
44	chr1:59248673-59248723	Caco-2	colon:	n/a
45	chr1:59248673-59248723	HEEpiC	esophagus:	n/a
46	chr1:59248673-59248723	SKMC	muscle:	n/a
47	chr1:59248673-59248723	GM19239	blood:	n/a
48	chr1:59248673-59248723	A549	lung:	n/a
49	chr1:59248673-59248723	MCF10A-Er-Src	breast:	n/a
50	chr1:59248673-59248723	ovcar-3	ovarian:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59246774..59249251-chr1:59451300..59453191,2	K562	blood:
2	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
3	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
4	chr1:52830101..52832396-chr1:59247801..59250793,2	K562	blood:
5	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
6	chr1:59248070..59249752-chr1:59509015..59510889,2	K562	blood:
7	chr1:59247150..59249652-chr1:59355694..59357549,2	MCF-7	breast:
8	chr1:59248192..59249746-chr1:60156030..60158345,2	MCF-7	breast:
9	chr1:59247291..59249563-chr1:59804823..59806731,2	K562	blood:
10	chr1:59246529..59249235-chr1:59474703..59476422,2	K562	blood:
11	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
12	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
13	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
14	chr1:59246525..59249398-chr1:60121634..60124612,2	K562	blood:
15	chr1:59245974..59248964-chr1:60182800..60185774,2	MCF-7	breast:
16	chr1:59248023..59251652-chr1:59759822..59764138,5	MCF-7	breast:
17	chr1:59247984..59249689-chr1:59605689..59608661,2	MCF-7	breast:
18	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
19	chr1:59248634..59251587-chr1:59519796..59523397,3	K562	blood:
20	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
21	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
22	chr1:59247660..59249261-chr1:59326768..59328328,2	K562	blood:
23	chr1:59246435..59249254-chr1:59487144..59489692,2	MCF-7	breast:
24	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
25	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
26	chr1:59246671..59249127-chr1:59295559..59298699,3	K562	blood:
27	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
28	chr1:59248380..59248910-chr11:62608635..62609617,2	Hela-S3	cervix:
29	chr1:59247175..59249150-chr1:59885978..59888095,2	K562	blood:
30	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
31	chr1:59176336..59177899-chr1:59247629..59249270,2	K562	blood:
32	chr1:59246945..59249154-chr1:59305966..59308006,2	K562	blood:
33	chr1:59229058..59237226-chr1:59244356..59250672,11	MCF-7	breast:
34	chr1:59245007..59249031-chr1:59898130..59900045,3	MCF-7	breast:
35	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
36	chr1:59010838..59012578-chr1:59247144..59249684,2	K562	blood:
37	chr1:59248321..59248874-chr21:17101879..17102767,2	Hela-S3	cervix:
38	chr1:59248658..59249657-chr13:73632803..73633304,2	Hela-S3	cervix:
39	chr1:59247035..59249570-chr1:59509015..59511217,2	K562	blood:
40	chr1:59196730..59199311-chr1:59246080..59248881,2	K562	blood:
41	chr1:59154836..59157699-chr1:59248547..59250761,2	MCF-7	breast:
42	chr1:59247372..59249608-chr1:59323526..59327385,3	MCF-7	breast:
43	chr1:59246920..59249651-chr1:59428751..59431071,2	K562	blood:
44	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
45	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
46	chr1:59245041..59248743-chr1:59419593..59423853,4	K562	blood:
47	chr1:59246523..59249295-chr1:59324032..59326684,3	K562	blood:

No data

Variant related genes	Relation type
LINC01135	TF binding region
LINC01135	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000154222	Chromatin interaction
ENSG00000155313	Chromatin interaction
ENSG00000235215	Chromatin interaction
ENSG00000237352	Chromatin interaction
ENSG00000241042	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000264081	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000102554	Chromatin interaction
ENSG00000232453	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798968	chr1:59246581-59251097	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1799803	chr1:59246581-59251097	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv12569	chr1:59247251-59250394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
4	esv1800016	chr1:59247993-59250312	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
5	esv1801003	chr1:59247993-59250312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
6	esv1801034	chr1:59247993-59250312	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
7	esv1802607	chr1:59247993-59250312	Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
8	esv1802992	chr1:59247993-59251097	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 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	chr1:59245200-59251400	Active TSS	Aorta	Aorta
2	chr1:59245600-59250600	Active TSS	HMEC	breast
3	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
4	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
5	chr1:59245800-59248800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
6	chr1:59246000-59251200	Active TSS	Liver	Liver
7	chr1:59246200-59248800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
9	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:59246600-59249000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:59246600-59251200	Active TSS	A549	lung
13	chr1:59246600-59251400	Active TSS	Ovary	ovary
14	chr1:59246800-59248800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:59246800-59248800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
16	chr1:59246800-59249400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr1:59246800-59249600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:59246800-59251000	Active TSS	HSMM	muscle
19	chr1:59246800-59251200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:59246800-59251400	Active TSS	Colon Smooth Muscle	Colon
21	chr1:59246800-59252000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:59247000-59248800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:59247000-59248800	Transcr. at gene 5' and 3'	NHEK	skin
24	chr1:59247000-59249000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:59247000-59249000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:59247000-59249000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:59247000-59249200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:59247000-59249400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:59247000-59251200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:59247000-59251200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:59247000-59251200	Active TSS	Brain Angular Gyrus	brain
32	chr1:59247000-59251200	Active TSS	Brain Anterior Caudate	brain
33	chr1:59247000-59251200	Active TSS	Brain Hippocampus Middle	brain
34	chr1:59247000-59251200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:59247000-59251200	Active TSS	Fetal Heart	heart
36	chr1:59247000-59251200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:59247000-59251400	Active TSS	Brain Substantia Nigra	brain
38	chr1:59247200-59248800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:59247200-59248800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:59247200-59249000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:59247200-59249200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr1:59247200-59251000	Active TSS	Fetal Lung	lung
43	chr1:59247200-59251000	Active TSS	NH-A	brain
44	chr1:59247200-59251400	Active TSS	Small Intestine	intestine
45	chr1:59247400-59248800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:59247400-59248800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:59247400-59248800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:59247400-59248800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:59247400-59248800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
50	chr1:59247400-59248800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach

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