Variant report

Variant	rs572607120
Chromosome Location	chr5:177631030-177631031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:61)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:177630908-177631805	Hela-S3	cervix:	n/a	n/a
2	MYC	chr5:177630868-177632684	K562	blood:	n/a	n/a
3	POLR2A	chr5:177630918-177635502	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:177630933-177632031	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:177630893-177632526	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:177630947-177632842	GM19193	blood:	n/a	n/a
7	ZNF384	chr5:177630934-177631797	GM12878	blood:	n/a	n/a
8	E2F6	chr5:177630903-177632375	K562	blood:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631779-177631788 chr5:177631291-177631300
9	POLR2A	chr5:177630886-177634610	HL-60	blood:	n/a	n/a
10	POU2F2	chr5:177630967-177631785	GM12891	blood:	n/a	n/a
11	POLR2A	chr5:177630891-177643467	GM18505	blood:	n/a	n/a
12	PML	chr5:177630781-177631853	K562	blood:	n/a	n/a
13	POLR2A	chr5:177630901-177631047	A549	lung:	n/a	n/a
14	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
15	POLR2A	chr5:177631005-177631969	A549	lung:	n/a	n/a
16	MAX	chr5:177630903-177631834	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr5:177630889-177631885	MCF-7	breast:	n/a	n/a
18	RCOR1	chr5:177630788-177631725	K562	blood:	n/a	n/a
19	POLR2A	chr5:177630906-177632717	GM18951	blood:	n/a	n/a
20	BACH1	chr5:177630968-177631665	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:177631022-177632651	GM10847	blood:	n/a	n/a
22	MAX	chr5:177630995-177632651	HepG2	liver:	n/a	n/a
23	SP1	chr5:177630962-177631930	HCT-116	colon:	n/a	chr5:177631455-177631476
24	POLR2A	chr5:177630884-177632853	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:177630831-177644633	GM12892	blood:	n/a	n/a
26	POU2F2	chr5:177631023-177631838	GM12878	blood:	n/a	n/a
27	RCOR1	chr5:177630965-177632088	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr5:177630949-177632702	Hela-S3	cervix:	n/a	n/a
29	USF2	chr5:177630860-177631720	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:177630957-177632909	GM12892	blood:	n/a	n/a
31	MXI1	chr5:177630790-177633795	IMR90	lung:	n/a	n/a
32	TAF1	chr5:177630805-177631840	A549	lung:	n/a	n/a
33	POLR2A	chr5:177630864-177635435	HL-60	blood:	n/a	n/a
34	MYC	chr5:177631025-177632645	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:177630805-177644118	GM12878	blood:	n/a	n/a
36	TBP	chr5:177630985-177631751	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:177630993-177631812	K562	blood:	n/a	n/a
38	ELF1	chr5:177630841-177632640	GM12878	blood:	n/a	chr5:177631489-177631501 chr5:177631746-177631758 chr5:177632356-177632365 chr5:177632350-177632362
39	REST	chr5:177631026-177632040	MCF-7	breast:	n/a	chr5:177631734-177631747
40	PML	chr5:177630940-177631868	K562	blood:	n/a	n/a
41	TBL1XR1	chr5:177630983-177632024	GM12878	blood:	n/a	n/a
42	PML	chr5:177630930-177631956	GM12878	blood:	n/a	n/a
43	TAF7	chr5:177630817-177632813	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF384	chr5:177630071-177631797	K562	blood:	n/a	n/a
45	HEY1	chr5:177630886-177632027	K562	blood:	n/a	chr5:177630991-177631006 chr5:177631769-177631784 chr5:177631749-177631764 chr5:177631746-177631761
46	MAX	chr5:177630809-177632617	K562	blood:	n/a	n/a
47	MTA3	chr5:177630777-177631871	GM12878	blood:	n/a	n/a
48	WRNIP1	chr5:177630979-177631667	GM12878	blood:	n/a	n/a
49	REST	chr5:177630940-177631805	A549	lung:	n/a	chr5:177631734-177631747
50	REST	chr5:177630983-177631850	HL-60	blood:	n/a	chr5:177631734-177631747

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177630999-177631049	GM06990	blood:	n/a
2	chr5:177630999-177631049	SK-N-SH_RA	brain:	n/a
3	chr5:177630999-177631049	GM12892	blood:	n/a
4	chr5:177630999-177631049	Hepatocyte	liver:	n/a
5	chr5:177630999-177631049	CMK	blood:	n/a
6	chr5:177630999-177631049	HRE	kidney:	n/a
7	chr5:177630999-177631049	ProgFib	skin:	n/a
8	chr5:177630999-177631049	T-47D	breast:	n/a
9	chr5:177630999-177631049	PFSK-1	brain:	n/a
10	chr5:177630999-177631049	ECC-1	luminal epithelium:	n/a
11	chr5:177630999-177631049	Caco-2	colon:	n/a
12	chr5:177630999-177631049	HMEC	breast:	n/a
13	chr5:177630999-177631049	HRCEpiC	kidney:	n/a
14	chr5:177630999-177631049	HRPEpiC	eye:	n/a
15	chr5:177630999-177631049	GM12891	blood:	n/a
16	chr5:177630999-177631049	H1-hESC	embryonic stem cell:	embryo
17	chr5:177630999-177631049	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:177630999-177631049	A549	lung:	n/a
19	chr5:177630999-177631049	HIPEpiC	eye:	n/a
20	chr5:177630999-177631049	ovcar-3	ovarian:	n/a
21	chr5:177630999-177631049	HAEpiC	amniotic membrane:	n/a
22	chr5:177630999-177631049	MCF-7	breast:	n/a
23	chr5:177630999-177631049	GM12878	blood:	n/a
24	chr5:177630999-177631049	HCM	heart:	n/a
25	chr5:177630999-177631049	HUVEC	blood vessel:	n/a
26	chr5:177630999-177631049	SK-N-MC	brain:	n/a
27	chr5:177630999-177631049	BJ	skin:	n/a
28	chr5:177630999-177631049	HL-60	blood:	n/a
29	chr5:177630999-177631049	HCT-116	colon:	n/a
30	chr5:177630999-177631049	SK-N-SH	brain:	n/a
31	chr5:177630999-177631049	NHDF-neo	bronchial:	n/a
32	chr5:177630999-177631049	PANC-1	pancreas:	n/a
33	chr5:177630999-177631049	NB4	blood:	n/a
34	chr5:177630999-177631049	SKMC	muscle:	n/a
35	chr5:177630999-177631049	IMR90	lung:	fetal
36	chr5:177630999-177631049	HEEpiC	esophagus:	n/a
37	chr5:177630999-177631049	AG09319	gingival:	n/a
38	chr5:177630999-177631049	BE2_C	brain:	n/a
39	chr5:177630999-177631049	GM19239	blood:	n/a
40	chr5:177630999-177631049	AG04450	lung:	fetal
41	chr5:177630999-177631049	HNPCEpiC	eye:	n/a
42	chr5:177630999-177631049	NH-A	brain:	n/a
43	chr5:177630999-177631049	U87	brain:	n/a
44	chr5:177630999-177631049	HCF	heart:	n/a
45	chr5:177630999-177631049	RPTEC	kidney:	n/a
46	chr5:177630999-177631049	MCF10A-Er-Src	breast:	n/a
47	chr5:177630999-177631049	AoSMC	blood vessel:	n/a
48	chr5:177630999-177631049	AG04449	skin:	fetal
49	chr5:177630999-177631049	NHBE	bronchial:	n/a
50	chr5:177630999-177631049	LNCaP	prostate:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177630857..177632033-chr9:127420460..127421416,3	Hela-S3	cervix:
2	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
3	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
4	chr1:45477405..45478123-chr5:177630913..177631748,2	Hela-S3	cervix:
5	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
6	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
7	chr5:176942187..176944181-chr5:177630972..177633765,3	K562	blood:
8	chr2:88354601..88355843-chr5:177630938..177632127,3	Hela-S3	cervix:
9	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
10	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
11	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
12	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
13	chr5:177630812..177632588-chr6:26155741..26158139,2	MCF-7	breast:
14	chr11:68038903..68039568-chr5:177630991..177631682,2	Hela-S3	cervix:
15	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
16	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
17	chr19:17326110..17326840-chr5:177630959..177631880,2	Hela-S3	cervix:
18	chr5:177630932..177632998-chr5:178042770..178045637,2	K562	blood:
19	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
20	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
21	chr1:150038862..150039533-chr5:177630955..177631779,2	Hela-S3	cervix:
22	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
23	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
24	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
25	chr10:74033146..74034168-chr5:177630872..177632336,3	Hela-S3	cervix:
26	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
27	chr16:31191094..31191972-chr5:177631009..177631688,2	Hela-S3	cervix:
28	chr2:106015048..106015549-chr5:177631016..177631612,2	Hela-S3	cervix:
29	chr2:157292564..157293208-chr5:177630914..177631599,2	Hela-S3	cervix:
30	chr5:177630949..177631720-chr6:10415352..10415889,2	Hela-S3	cervix:
31	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
32	chr17:73775443..73776224-chr5:177630920..177631582,2	Hela-S3	cervix:
33	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
HNRNPAB	CpG island
ENSG00000169045	Chromatin interaction
ENSG00000137203	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000113732	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000251211	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000172086	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000115641	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000183258	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000115159	Chromatin interaction
ENSG00000224020	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000145912	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
5	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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	106 gene(s)	inside rSNPs	diseases
6	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
8	esv3404661	chr5:177629746-177634244	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
9	esv3357614	chr5:177630371-177632919	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	86 gene(s)	inside rSNPs	diseases
10	nsv820182	chr5:177630926-177634191	Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
11	esv3373194	chr5:177630971-177633519	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177630200-177632400	Active TSS	K562	blood
2	chr5:177630200-177632600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:177630200-177632600	Active TSS	Hela-S3	cervix
4	chr5:177630600-177631600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:177630600-177632600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:177630600-177632800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:177630800-177631200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:177630800-177631200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:177630800-177631200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr5:177630800-177631200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr5:177630800-177631200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr5:177630800-177631200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:177630800-177631200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:177630800-177631200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:177630800-177631200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:177630800-177631200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr5:177630800-177631200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:177630800-177631200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr5:177630800-177631200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:177630800-177631200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:177630800-177631200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:177630800-177631200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr5:177630800-177631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr5:177630800-177631200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr5:177630800-177631200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr5:177630800-177631200	Flanking Active TSS	Fetal Thymus	thymus
29	chr5:177630800-177631200	Flanking Active TSS	Pancreas	Pancrea
30	chr5:177630800-177631200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr5:177630800-177631200	Flanking Active TSS	HepG2	liver
32	chr5:177630800-177631200	Flanking Active TSS	HMEC	breast
33	chr5:177630800-177631200	Flanking Active TSS	HUVEC	blood vessel
34	chr5:177630800-177631200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr5:177630800-177631200	Flanking Active TSS	NH-A	brain
36	chr5:177630800-177631200	Flanking Active TSS	Osteobl	bone
37	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:177630800-177631400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:177630800-177631400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:177630800-177631400	Flanking Active TSS	Liver	Liver
43	chr5:177630800-177631400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr5:177630800-177631400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr5:177630800-177631400	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr5:177630800-177631800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr5:177630800-177632200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:177630800-177632400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:177630800-177632400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:177630800-177632400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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