Variant report

Variant	rs4647019
Chromosome Location	chr1:59246413-59246414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
2	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:59245334-59246889	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
5	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
6	POLR2A	chr1:59244614-59251725	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:59244517-59246995	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:59244523-59251294	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:59245241-59249887	K562	blood:	n/a	n/a
10	RCOR1	chr1:59245085-59247110	HepG2	liver:	n/a	n/a
11	CHD2	chr1:59244672-59246973	HepG2	liver:	n/a	n/a
12	NFYA	chr1:59245747-59246557	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:59244682-59251438	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:59245389-59246950	Hela-S3	cervix:	n/a	n/a
15	CEBPZ	chr1:59246251-59246861	HepG2	liver:	n/a	n/a
16	MAX	chr1:59245600-59251175	HepG2	liver:	n/a	chr1:59249843-59249852
17	POLR2A	chr1:59245312-59247006	GM12892	blood:	n/a	n/a
18	TCF7L2	chr1:59245460-59246715	HEK293	kidney:	n/a	chr1:59245652-59245661
19	POLR2A	chr1:59243686-59251714	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr1:59245391-59247001	GM12892	blood:	n/a	n/a
21	REST	chr1:59246413-59251517	H1-neurons	neurons:	n/a	chr1:59249842-59249851 chr1:59249082-59249100 chr1:59249081-59249101 chr1:59251217-59251231
22	POLR2A	chr1:59244543-59251831	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:59243934-59251878	U87	brain:	n/a	n/a
24	POLR2A	chr1:59245266-59246983	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:59246111-59247022	Hela-S3	cervix:	n/a	n/a
26	JUND	chr1:59244731-59247038	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr1:59244510-59251644	K562	blood:	n/a	n/a
28	KAP1	chr1:59245324-59246879	HEK293	kidney:	n/a	n/a
29	ARID3A	chr1:59244726-59247751	HepG2	liver:	n/a	n/a
30	NFYB	chr1:59246265-59246684	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:59245215-59246882	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:59244754-59251746	PANC-1	pancreas:	n/a	n/a
33	MAZ	chr1:59244647-59251811	IMR90	lung:	n/a	chr1:59249843-59249852
34	POLR2A	chr1:59244499-59247115	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:59244292-59251292	HUVEC	blood vessel:	n/a	n/a
36	CHD2	chr1:59245338-59247907	K562	blood:	n/a	n/a
37	POLR2A	chr1:59246180-59246871	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:59244100-59250835	A549	lung:	n/a	n/a
39	POLR2A	chr1:59245284-59247043	K562	blood:	n/a	n/a
40	POLR2A	chr1:59244062-59251234	K562	blood:	n/a	n/a
41	MAFF	chr1:59245276-59246846	HepG2	liver:	n/a	n/a
42	RFX5	chr1:59246283-59246822	HepG2	liver:	n/a	n/a
43	HEY1	chr1:59245390-59246950	HepG2	liver:	n/a	n/a
44	TEAD4	chr1:59245635-59246973	K562	blood:	n/a	n/a
45	POLR2A	chr1:59246104-59246429	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:59245875-59247044	PBDE	blood:	n/a	n/a
47	MAFK	chr1:59245188-59246859	IMR90	lung:	n/a	chr1:59245600-59245617
48	POLR2A	chr1:59245458-59251169	K562	blood:	n/a	n/a
49	KAP1	chr1:59246224-59246716	K562	blood:	n/a	n/a
50	POLR2A	chr1:59244036-59251265	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:59244361..59246823-chr1:59649097..59651993,2	K562	blood:
2	chr1:59244855..59247331-chr1:59314391..59317376,3	K562	blood:
3	chr1:59245914..59247946-chr1:59568208..59571099,2	K562	blood:
4	chr1:59244768..59246699-chr1:59759656..59762805,3	K562	blood:
5	chr1:59208975..59211483-chr1:59245941..59247562,2	MCF-7	breast:
6	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
7	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
8	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
9	chr1:59245313..59247577-chr1:59481237..59483014,2	K562	blood:
10	chr1:59244693..59246755-chr1:60196068..60197895,2	K562	blood:
11	chr1:28973695..28976366-chr1:59244298..59247179,2	K562	blood:
12	chr1:59246163..59248652-chr1:59466870..59469148,2	K562	blood:
13	chr1:59188596..59190671-chr1:59244516..59246451,3	K562	blood:
14	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
15	chr1:59246264..59248102-chr1:149855755..149857816,2	MCF-7	breast:
16	chr1:59244238..59248031-chr1:59689062..59692608,4	K562	blood:
17	chr1:59245157..59247090-chr1:59636264..59638828,2	K562	blood:
18	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
19	chr1:59245589..59247526-chr1:59439230..59441535,3	K562	blood:
20	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
21	chr1:59245974..59248964-chr1:60182800..60185774,2	MCF-7	breast:
22	chr1:59244169..59247698-chr1:60062396..60065400,3	K562	blood:
23	chr1:59244855..59247592-chr1:59314391..59317376,4	K562	blood:
24	chr1:59244079..59247030-chr1:60125320..60128311,2	K562	blood:
25	chr1:59244923..59247251-chr1:59843655..59845229,2	K562	blood:
26	chr1:59192672..59194770-chr1:59244784..59246788,2	MCF-7	breast:
27	chr1:59244331..59246444-chr1:59329180..59331508,4	K562	blood:
28	chr1:59186058..59188120-chr1:59245328..59247867,2	K562	blood:
29	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
30	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
31	chr1:59244169..59247928-chr1:60060481..60064138,5	K562	blood:
32	chr1:59244161..59247403-chr1:59832378..59835096,3	K562	blood:
33	chr1:59203533..59207535-chr1:59246122..59248670,4	K562	blood:
34	chr1:59244501..59246539-chr1:59401938..59403701,2	K562	blood:
35	chr1:59245573..59247756-chr1:59431368..59433217,2	K562	blood:
36	chr1:59208278..59211622-chr1:59243472..59246717,6	K562	blood:
37	chr1:59246122..59248225-chr1:60208395..60212049,3	K562	blood:
38	chr1:59245164..59246849-chr1:59463690..59466367,2	K562	blood:
39	chr1:59245718..59248161-chr1:59323277..59324885,2	MCF-7	breast:
40	chr1:59191433..59194290-chr1:59244978..59247044,2	K562	blood:
41	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
42	chr1:59245604..59247254-chr1:59311635..59313742,2	K562	blood:
43	chr1:59245933..59248490-chr1:59559542..59562151,2	K562	blood:
44	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
45	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
46	chr1:59244785..59246783-chr1:59553913..59556142,2	K562	blood:
47	chr1:59245275..59248106-chr1:59562308..59564391,2	K562	blood:
48	chr1:59244236..59247273-chr1:59648638..59651433,3	K562	blood:
49	chr1:59082041..59083962-chr1:59243865..59246416,2	K562	blood:
50	chr1:59245909..59247878-chr1:59481525..59484880,3	K562	blood:

No data

Variant related genes	Relation type
LINC01135	TF binding region
ENSG00000270103	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000222168	Chromatin interaction
ENSG00000231740	Chromatin interaction
ENSG00000228121	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000235215	Chromatin interaction
ENSG00000264081	Chromatin interaction

rs_ID	r²[population]
rs34938302	0.86[AFR][1000 genomes]
rs4647011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4647013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57129742	1.00[AMR][1000 genomes]
rs57263270	0.81[AFR][1000 genomes]
rs58010530	1.00[AMR][1000 genomes]
rs58128095	0.81[AFR][1000 genomes]
rs58339644	1.00[AFR][1000 genomes]
rs59100869	1.00[AMR][1000 genomes]
rs59165416	1.00[AMR][1000 genomes]
rs74078118	1.00[AMR][1000 genomes]
rs74078124	1.00[AMR][1000 genomes]
rs74078128	1.00[AMR][1000 genomes]
rs74078130	1.00[AMR][1000 genomes]
rs74078639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079808	0.81[AFR][1000 genomes]
rs74079818	0.86[AFR][1000 genomes]
rs74079819	0.86[AFR][1000 genomes]
rs74079820	0.86[AFR][1000 genomes]

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59239800-59246600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59239800-59247200	Weak transcription	Esophagus	oesophagus
3	chr1:59239800-59247400	Weak transcription	Gastric	stomach
4	chr1:59240600-59246600	Weak transcription	Left Ventricle	heart
5	chr1:59240800-59246600	Weak transcription	Pancreas	Pancrea
6	chr1:59243200-59247200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:59245200-59247000	Enhancers	Hela-S3	cervix
8	chr1:59245200-59251400	Active TSS	Aorta	Aorta
9	chr1:59245400-59246600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:59245400-59246600	Enhancers	Brain Anterior Caudate	brain
11	chr1:59245400-59246600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:59245400-59246600	Enhancers	Stomach Mucosa	stomach
13	chr1:59245400-59247000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:59245400-59247600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:59245600-59246600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:59245600-59246600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:59245600-59246600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:59245600-59246600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:59245600-59246600	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:59245600-59246600	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:59245600-59246600	Flanking Active TSS	HUVEC	blood vessel
22	chr1:59245600-59246800	Flanking Active TSS	NHEK	skin
23	chr1:59245600-59247000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:59245600-59247000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:59245600-59247200	Flanking Active TSS	Fetal Lung	lung
26	chr1:59245600-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:59245600-59247400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:59245600-59247600	Active TSS	Right Ventricle	heart
29	chr1:59245600-59247600	Active TSS	Stomach Smooth Muscle	stomach
30	chr1:59245600-59250600	Active TSS	HMEC	breast
31	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
32	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
33	chr1:59245800-59246600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:59245800-59246600	Enhancers	Brain Substantia Nigra	brain
35	chr1:59245800-59246600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:59245800-59246600	Active TSS	Fetal Muscle Leg	muscle
37	chr1:59245800-59246800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:59245800-59246800	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:59245800-59247000	Flanking Active TSS	Fetal Heart	heart
40	chr1:59245800-59247200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:59245800-59247200	Active TSS	Fetal Intestine Small	intestine
42	chr1:59245800-59247200	Enhancers	HepG2	liver
43	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
45	chr1:59245800-59248800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
46	chr1:59246000-59246600	Active TSS	Brain Hippocampus Middle	brain
47	chr1:59246000-59246600	Weak transcription	Colonic Mucosa	Colon
48	chr1:59246000-59246600	Flanking Active TSS	A549	lung
49	chr1:59246000-59246600	Active TSS	NH-A	brain
50	chr1:59246000-59246800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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