Variant report

Variant	rs570567319
Chromosome Location	chr5:177632361-177632362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:177630868-177632684	K562	blood:	n/a	n/a
2	POLR2A	chr5:177630918-177635502	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:177632232-177633236	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:177630893-177632526	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:177630947-177632842	GM19193	blood:	n/a	n/a
6	POLR2A	chr5:177632210-177635513	PANC-1	pancreas:	n/a	n/a
7	E2F6	chr5:177630903-177632375	K562	blood:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631779-177631788 chr5:177631291-177631300
8	POLR2A	chr5:177630886-177634610	HL-60	blood:	n/a	n/a
9	TBL1XR1	chr5:177632205-177633547	K562	blood:	n/a	n/a
10	EGR1	chr5:177631949-177632548	GM12878	blood:	n/a	chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632383-177632398 chr5:177632384-177632398 chr5:177632386-177632395 chr5:177632380-177632402 chr5:177632387-177632396
11	POLR2A	chr5:177632214-177632469	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:177631885-177632779	K562	blood:	n/a	n/a
13	ATF2	chr5:177632330-177633205	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:177630891-177643467	GM18505	blood:	n/a	n/a
15	PAX5	chr5:177631928-177632565	GM12892	blood:	n/a	n/a
16	PML	chr5:177632210-177632865	MCF-7	breast:	n/a	n/a
17	EGR1	chr5:177632041-177632920	HCT-116	colon:	n/a	chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632383-177632398 chr5:177632384-177632398 chr5:177632386-177632395 chr5:177632380-177632402 chr5:177632387-177632396
18	YY1	chr5:177631084-177632630	HepG2	liver:	n/a	chr5:177631589-177631598 chr5:177631291-177631300 chr5:177632371-177632385 chr5:177631749-177631760
19	EGR1	chr5:177631927-177632577	K562	blood:	n/a	chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632383-177632398 chr5:177632384-177632398 chr5:177632386-177632395 chr5:177632380-177632402 chr5:177632387-177632396
20	SIN3AK20	chr5:177632327-177632585	K562	blood:	n/a	n/a
21	PAX5	chr5:177632155-177632784	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:177631061-177632748	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr5:177630906-177632717	GM18951	blood:	n/a	n/a
24	MAX	chr5:177631098-177632563	K562	blood:	n/a	n/a
25	POLR2A	chr5:177631022-177632651	GM10847	blood:	n/a	n/a
26	MAX	chr5:177630995-177632651	HepG2	liver:	n/a	n/a
27	ELF1	chr5:177632162-177632532	HepG2	liver:	n/a	chr5:177632356-177632365 chr5:177632350-177632362
28	POLR2A	chr5:177630884-177632853	GM12878	blood:	n/a	n/a
29	CHD2	chr5:177631070-177633577	K562	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
30	ZC3H11A	chr5:177632229-177633271	K562	blood:	n/a	n/a
31	POLR2A	chr5:177630831-177644633	GM12892	blood:	n/a	n/a
32	RUNX3	chr5:177632320-177632675	GM12878	blood:	n/a	n/a
33	MAX	chr5:177632239-177632550	K562	blood:	n/a	n/a
34	MAZ	chr5:177630949-177632702	Hela-S3	cervix:	n/a	n/a
35	EGR1	chr5:177632191-177632707	ECC-1	luminal epithelium:	n/a	chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632385-177632396 chr5:177632384-177632397 chr5:177632384-177632397 chr5:177632386-177632396 chr5:177632383-177632398 chr5:177632384-177632398 chr5:177632386-177632395 chr5:177632380-177632402 chr5:177632387-177632396
36	E2F4	chr5:177632237-177632649	GM12878	blood:	n/a	chr5:177632399-177632414 chr5:177632373-177632382 chr5:177632378-177632388
37	POLR2A	chr5:177630957-177632909	GM12892	blood:	n/a	n/a
38	MXI1	chr5:177630790-177633795	IMR90	lung:	n/a	n/a
39	CTCF	chr5:177632220-177632370	GM12873	blood:	n/a	n/a
40	BACH1	chr5:177632149-177632720	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF7L2	chr5:177631073-177632708	PANC-1	pancreas:	n/a	n/a
42	RCOR1	chr5:177631991-177633098	K562	blood:	n/a	n/a
43	POLR2A	chr5:177630864-177635435	HL-60	blood:	n/a	n/a
44	MYC	chr5:177631025-177632645	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:177630805-177644118	GM12878	blood:	n/a	n/a
46	ELF1	chr5:177630841-177632640	GM12878	blood:	n/a	chr5:177631489-177631501 chr5:177631746-177631758 chr5:177632356-177632365 chr5:177632350-177632362
47	MTA3	chr5:177632275-177633820	GM12878	blood:	n/a	n/a
48	TAF7	chr5:177630817-177632813	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF263	chr5:177632161-177637723	HEK293-T-REx	kidney:	n/a	n/a
50	POLR2A	chr5:177631094-177644651	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
2	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
3	chr19:3982997..3985280-chr5:177631558..177634299,2	K562	blood:
4	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
5	chr5:176942187..176944181-chr5:177630972..177633765,3	K562	blood:
6	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
7	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
8	chr10:103124106..103124612-chr5:177631575..177632503,2	Hela-S3	cervix:
9	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
10	chr5:177578534..177581104-chr5:177631476..177634038,2	MCF-7	breast:
11	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
12	chr5:177630812..177632588-chr6:26155741..26158139,2	MCF-7	breast:
13	chr3:167452249..167452899-chr5:177631538..177632416,2	Hela-S3	cervix:
14	chr16:22018965..22019590-chr5:177631826..177632604,2	Hela-S3	cervix:
15	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:
16	chr2:88927008..88927587-chr5:177631246..177632535,3	Hela-S3	cervix:
17	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
18	chr5:177631253..177632828-chr5:178016105..178018488,2	MCF-7	breast:
19	chr5:177630932..177632998-chr5:178042770..178045637,2	K562	blood:
20	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
21	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
22	chr11:33061118..33061877-chr5:177631589..177632429,2	NB4	blood:
23	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
24	chr5:177631376..177633067-chr5:178051942..178054079,2	K562	blood:
25	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
26	chr18:13542130..13544313-chr5:177631134..177632861,2	MCF-7	breast:
27	chr5:177631720..177633728-chr6:25726576..25729132,2	K562	blood:
28	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
29	chr5:177631876..177633528-chr5:179047045..179049302,2	MCF-7	breast:
30	chr5:41924876..41925465-chr5:177631659..177632543,2	Hela-S3	cervix:
31	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
32	chr5:177568592..177570567-chr5:177631471..177633175,2	MCF-7	breast:
33	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
34	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000113240	Chromatin interaction
ENSG00000172071	Chromatin interaction
ENSG00000168675	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000251211	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000164508	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000050767	Chromatin interaction
ENSG00000185716	Chromatin interaction
ENSG00000146047	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000114209	Chromatin interaction
ENSG00000167658	Chromatin interaction
ENSG00000176148	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000234028	Chromatin interaction
ENSG00000183258	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	chr5:177630600-177632600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:177630600-177632800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:177630800-177632400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:177630800-177632400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177630800-177632400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:177630800-177632400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:177630800-177632400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:177630800-177632400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:177630800-177632400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:177630800-177632400	Active TSS	Placenta	Placenta
14	chr5:177630800-177632400	Active TSS	Dnd41	blood
15	chr5:177630800-177632400	Active TSS	NHEK	skin
16	chr5:177630800-177632600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr5:177630800-177632600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:177630800-177632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:177630800-177632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:177630800-177632600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:177630800-177632600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:177630800-177632600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr5:177630800-177632600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:177630800-177632600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr5:177630800-177632600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:177630800-177632600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr5:177630800-177632600	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:177630800-177632600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:177630800-177632600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr5:177630800-177632600	Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:177630800-177632600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:177630800-177632600	Active TSS	Brain Angular Gyrus	brain
33	chr5:177630800-177632600	Active TSS	Brain Anterior Caudate	brain
34	chr5:177630800-177632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:177630800-177632600	Active TSS	Brain Substantia Nigra	brain
36	chr5:177630800-177632600	Active TSS	Colon Smooth Muscle	Colon
37	chr5:177630800-177632600	Active TSS	Fetal Brain Female	brain
38	chr5:177630800-177632600	Active TSS	Fetal Intestine Large	intestine
39	chr5:177630800-177632600	Active TSS	Fetal Intestine Small	intestine
40	chr5:177630800-177632600	Active TSS	Fetal Lung	lung
41	chr5:177630800-177632600	Active TSS	Fetal Stomach	stomach
42	chr5:177630800-177632600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr5:177630800-177632600	Active TSS	A549	lung
44	chr5:177630800-177632600	Active TSS	GM12878-XiMat	blood
45	chr5:177630800-177632600	Active TSS	NHDF-Ad	bronchial
46	chr5:177630800-177632800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177630800-177632800	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr5:177630800-177632800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:177630800-177632800	Active TSS	Fetal Heart	heart
50	chr5:177630800-177632800	Active TSS	Pancreatic Islets	Pancreatic Islet

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