Variant report

Variant	rs374732427
Chromosome Location	chr1:59247357-59247358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:59247301-59248512	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
3	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr1:59247212-59248438	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:59247151-59251494	GM12892	blood:	n/a	n/a
6	SIN3AK20	chr1:59247248-59248101	SK-N-SH	brain:	n/a	n/a
7	PML	chr1:59247342-59247965	GM12878	blood:	n/a	n/a
8	RAD21	chr1:59247352-59247712	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr1:59247339-59247740	K562	blood:	n/a	n/a
10	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
11	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
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	POLR2A	chr1:59247171-59251601	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:59247074-59248139	HUVEC	blood vessel:	n/a	n/a
17	ZKSCAN1	chr1:59247347-59250548	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr1:59247295-59248282	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:59247146-59251217	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:59244523-59251294	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:59245241-59249887	K562	blood:	n/a	n/a
22	GTF2F1	chr1:59247354-59248461	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:59247048-59251502	GM12892	blood:	n/a	n/a
24	GATA3	chr1:59247268-59248516	A549	lung:	n/a	n/a
25	CCNT2	chr1:59247344-59251139	K562	blood:	n/a	chr1:59251021-59251030 chr1:59251014-59251023 chr1:59249183-59249192
26	MXI1	chr1:59247319-59251329	HepG2	liver:	n/a	chr1:59249837-59249852
27	POLR2A	chr1:59247252-59251594	GM18526	blood:	n/a	n/a
28	POLR2A	chr1:59247177-59251727	Hela-S3	cervix:	n/a	n/a
29	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
30	POLR2A	chr1:59244682-59251438	Hela-S3	cervix:	n/a	n/a
31	MAX	chr1:59245600-59251175	HepG2	liver:	n/a	chr1:59249843-59249852
32	POLR2A	chr1:59247115-59251277	HEK293	kidney:	n/a	n/a
33	POLR2A	chr1:59243686-59251714	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr1:59247354-59247813	IMR90	lung:	n/a	n/a
35	POLR2A	chr1:59247201-59251418	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr1:59247312-59247817	K562	blood:	n/a	n/a
37	TAF1	chr1:59247238-59247788	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:59247203-59247455	SK-N-SH	brain:	n/a	n/a
39	TEAD4	chr1:59247217-59249315	SK-N-SH	brain:	n/a	n/a
40	CHD2	chr1:59247200-59251423	HepG2	liver:	n/a	chr1:59250203-59250213
41	REST	chr1:59246413-59251517	H1-neurons	neurons:	n/a	chr1:59249842-59249851 chr1:59249082-59249100 chr1:59249081-59249101 chr1:59251217-59251231
42	POLR2A	chr1:59247353-59251537	GM19193	blood:	n/a	n/a
43	POLR2A	chr1:59247216-59251231	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr1:59247136-59247938	GM12891	blood:	n/a	n/a
45	POLR2A	chr1:59244543-59251831	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:59247177-59250299	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:59243934-59251878	U87	brain:	n/a	n/a
48	POLR2A	chr1:59247196-59251407	HUVEC	blood vessel:	n/a	n/a
49	MXI1	chr1:59247313-59247602	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr1:59247247-59251712	Hela-S3	cervix:	n/a	chr1:59249843-59249852

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:59246774..59249251-chr1:59451300..59453191,2	K562	blood:
2	chr1:59245914..59247946-chr1:59568208..59571099,2	K562	blood:
3	chr1:59208975..59211483-chr1:59245941..59247562,2	MCF-7	breast:
4	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
5	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
6	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
7	chr1:59245313..59247577-chr1:59481237..59483014,2	K562	blood:
8	chr1:59247150..59249652-chr1:59355694..59357549,2	MCF-7	breast:
9	chr1:59246163..59248652-chr1:59466870..59469148,2	K562	blood:
10	chr1:59247291..59249563-chr1:59804823..59806731,2	K562	blood:
11	chr1:59246529..59249235-chr1:59474703..59476422,2	K562	blood:
12	chr1:59247112..59247904-chr3:50336459..50337013,2	Hela-S3	cervix:
13	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
14	chr1:59246264..59248102-chr1:149855755..149857816,2	MCF-7	breast:
15	chr1:59244238..59248031-chr1:59689062..59692608,4	K562	blood:
16	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
17	chr1:59245589..59247526-chr1:59439230..59441535,3	K562	blood:
18	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
19	chr1:59246525..59249398-chr1:60121634..60124612,2	K562	blood:
20	chr1:59245974..59248964-chr1:60182800..60185774,2	MCF-7	breast:
21	chr1:59244169..59247698-chr1:60062396..60065400,3	K562	blood:
22	chr1:59244855..59247592-chr1:59314391..59317376,4	K562	blood:
23	chr1:59246648..59248452-chr1:59606800..59609133,2	K562	blood:
24	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
25	chr1:59186058..59188120-chr1:59245328..59247867,2	K562	blood:
26	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
27	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
28	chr1:59246435..59249254-chr1:59487144..59489692,2	MCF-7	breast:
29	chr1:59244169..59247928-chr1:60060481..60064138,5	K562	blood:
30	chr1:59244161..59247403-chr1:59832378..59835096,3	K562	blood:
31	chr1:59203533..59207535-chr1:59246122..59248670,4	K562	blood:
32	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
33	chr1:59245573..59247756-chr1:59431368..59433217,2	K562	blood:
34	chr1:59246122..59248225-chr1:60208395..60212049,3	K562	blood:
35	chr1:59245718..59248161-chr1:59323277..59324885,2	MCF-7	breast:
36	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
37	chr1:59245933..59248490-chr1:59559542..59562151,2	K562	blood:
38	chr1:59246671..59249127-chr1:59295559..59298699,3	K562	blood:
39	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
40	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
41	chr1:59245275..59248106-chr1:59562308..59564391,2	K562	blood:
42	chr1:59247175..59249150-chr1:59885978..59888095,2	K562	blood:
43	chr1:59245909..59247878-chr1:59481525..59484880,3	K562	blood:
44	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
45	chr1:59245308..59247839-chr1:60213241..60216132,2	K562	blood:
46	chr1:59246945..59249154-chr1:59305966..59308006,2	K562	blood:
47	chr1:59229058..59237226-chr1:59244356..59250672,11	MCF-7	breast:
48	chr1:59245007..59249031-chr1:59898130..59900045,3	MCF-7	breast:
49	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
50	chr1:59245349..59248652-chr1:59463306..59469148,5	K562	blood:

No data

Variant related genes	Relation type
LINC01135	TF binding region
ENSG00000235215	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000264081	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000228121	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000231740	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000222168	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59239800-59247400	Weak transcription	Gastric	stomach
2	chr1:59245200-59251400	Active TSS	Aorta	Aorta
3	chr1:59245400-59247600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:59245600-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:59245600-59247400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:59245600-59247600	Active TSS	Right Ventricle	heart
7	chr1:59245600-59247600	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:59245600-59250600	Active TSS	HMEC	breast
9	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
10	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
11	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr1:59245800-59248800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
14	chr1:59246000-59247400	Active TSS	NHLF	lung
15	chr1:59246000-59247600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:59246000-59247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:59246000-59248000	Active TSS	Right Atrium	heart
18	chr1:59246000-59248400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:59246000-59251200	Active TSS	Liver	Liver
20	chr1:59246200-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:59246200-59247400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
22	chr1:59246200-59247600	Flanking Active TSS	Fetal Brain Male	brain
23	chr1:59246200-59248800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
25	chr1:59246400-59247400	Active TSS	Fetal Intestine Large	intestine
26	chr1:59246400-59247400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:59246400-59248600	Transcr. at gene 5' and 3'	Osteobl	bone
28	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:59246600-59247400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:59246600-59247400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:59246600-59247400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:59246600-59247400	Active TSS	Colonic Mucosa	Colon
33	chr1:59246600-59247400	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:59246600-59247400	Bivalent/Poised TSS	Thymus	Thymus
35	chr1:59246600-59247800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:59246600-59247800	Active TSS	Lung	lung
37	chr1:59246600-59248200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:59246600-59248400	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
39	chr1:59246600-59248400	Active TSS	GM12878-XiMat	blood
40	chr1:59246600-59249000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:59246600-59251200	Active TSS	A549	lung
43	chr1:59246600-59251400	Active TSS	Ovary	ovary
44	chr1:59246800-59247400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr1:59246800-59247400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:59246800-59247400	Active TSS	Fetal Muscle Leg	muscle
47	chr1:59246800-59247400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:59246800-59247600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:59246800-59247600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:59246800-59247600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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