Variant report

Variant	rs33918751
Chromosome Location	chr5:177630844-177630845
allele	-/AAGA
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	PML	chr5:177630781-177631853	K562	blood:	n/a	n/a
2	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
3	RCOR1	chr5:177630788-177631725	K562	blood:	n/a	n/a
4	POLR2A	chr5:177630831-177644633	GM12892	blood:	n/a	n/a
5	MXI1	chr5:177630790-177633795	IMR90	lung:	n/a	n/a
6	TAF1	chr5:177630805-177631840	A549	lung:	n/a	n/a
7	POLR2A	chr5:177630805-177644118	GM12878	blood:	n/a	n/a
8	ELF1	chr5:177630841-177632640	GM12878	blood:	n/a	chr5:177631489-177631501 chr5:177631746-177631758 chr5:177632356-177632365 chr5:177632350-177632362
9	TAF7	chr5:177630817-177632813	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF384	chr5:177630071-177631797	K562	blood:	n/a	n/a
11	MAX	chr5:177630809-177632617	K562	blood:	n/a	n/a
12	MTA3	chr5:177630777-177631871	GM12878	blood:	n/a	n/a
13	MXI1	chr5:177630803-177633933	SK-N-SH	brain:	n/a	n/a
14	E2F4	chr5:177630827-177631715	MCF10A-Er-Src	breast:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631291-177631300
15	JUN	chr5:177630781-177632899	K562	blood:	n/a	chr5:177631755-177631764 chr5:177631415-177631424
16	MYC	chr5:177630809-177633355	A549	lung:	n/a	n/a
17	MAX	chr5:177630787-177632849	HCT-116	colon:	n/a	n/a
18	E2F6	chr5:177630768-177631752	H1-hESC	embryonic stem cell:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631291-177631300
19	UBTF	chr5:177630833-177632512	K562	blood:	n/a	n/a
20	SIN3AK20	chr5:177630843-177632768	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr5:177630835-177632870	Hela-S3	cervix:	n/a	n/a
22	HCFC1	chr5:177630758-177632802	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr5:177630784-177631853	MCF-7	breast:	n/a	n/a
24	TAF1	chr5:177630815-177632659	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr5:177630760-177631767	A549	lung:	n/a	chr5:177631456-177631465 chr5:177631587-177631597 chr5:177631291-177631300
26	POLR2A	chr5:177630842-177644081	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr5:177630709-177633810	MCF-7	breast:	n/a	n/a
28	MAX	chr5:177630844-177632291	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:177630835-177631806	K562	blood:	n/a	n/a
30	MAZ	chr5:177630796-177633978	IMR90	lung:	n/a	n/a
31	POLR2A	chr5:177630830-177634923	MCF10A-Er-Src	breast:	n/a	n/a
32	TEAD4	chr5:177630784-177631773	K562	blood:	n/a	n/a
33	TCF12	chr5:177630794-177631918	A549	lung:	n/a	chr5:177630871-177630880
34	ELF1	chr5:177630832-177631899	MCF-7	breast:	n/a	chr5:177631489-177631501 chr5:177631746-177631758
35	ESRRA	chr5:177630703-177632715	GM12878	blood:	n/a	chr5:177632340-177632353
36	POLR2A	chr5:177630843-177644062	H1-hESC	embryonic stem cell:	n/a	n/a
37	HA-E2F1	chr5:177630814-177632855	MCF-7	breast:	n/a	chr5:177632399-177632414 chr5:177631456-177631465 chr5:177632373-177632382 chr5:177631587-177631597 chr5:177632378-177632388 chr5:177631779-177631788 chr5:177631291-177631300
38	CHD2	chr5:177630837-177632889	Hela-S3	cervix:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
39	REST	chr5:177630809-177632636	H1-neurons	neurons:	n/a	chr5:177632434-177632447 chr5:177631734-177631747
40	MAX	chr5:177630754-177632701	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:177630842-177632740	Raji	blood:	n/a	n/a
42	POLR2A	chr5:177630811-177632919	K562	blood:	n/a	n/a
43	MAX	chr5:177630797-177632880	HCT-116	colon:	n/a	n/a
44	POLR2A	chr5:177630825-177635479	K562	blood:	n/a	n/a
45	MAX	chr5:177630766-177632369	A549	lung:	n/a	n/a
46	SP1	chr5:177630772-177631744	A549	lung:	n/a	chr5:177631455-177631476
47	SP1	chr5:177630817-177631918	HCT-116	colon:	n/a	chr5:177631455-177631476
48	POLR2A	chr5:177630844-177643917	K562	blood:	n/a	n/a
49	POLR2A	chr5:177630822-177635468	K562	blood:	n/a	n/a
50	MAX	chr5:177630730-177632718	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
2	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
3	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
4	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
5	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
6	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
7	chr5:177630812..177632588-chr6:26155741..26158139,2	MCF-7	breast:
8	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
9	chr5:176980028..176981859-chr5:177628460..177630883,2	K562	blood:
10	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
11	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
12	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
13	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
14	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
15	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
16	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
17	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000272459	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000251211	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000252464	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000113732	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000145916	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv299186	chr5:177630844-177630847	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr5:177630800-177631000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177630800-177631000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:177630800-177631000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:177630800-177631000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:177630800-177631000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr5:177630800-177631000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr5:177630800-177631000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr5:177630800-177631000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:177630800-177631000	Active TSS	Right Atrium	heart
16	chr5:177630800-177631000	Enhancers	Spleen	Spleen
17	chr5:177630800-177631000	Flanking Active TSS	HSMM	muscle
18	chr5:177630800-177631000	Flanking Active TSS	HSMMtube	muscle
19	chr5:177630800-177631000	Flanking Active TSS	NHLF	lung
20	chr5:177630800-177631200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:177630800-177631200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177630800-177631200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr5:177630800-177631200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr5:177630800-177631200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:177630800-177631200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr5:177630800-177631200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:177630800-177631200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:177630800-177631200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:177630800-177631200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:177630800-177631200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:177630800-177631200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:177630800-177631200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:177630800-177631200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:177630800-177631200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:177630800-177631200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr5:177630800-177631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr5:177630800-177631200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:177630800-177631200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:177630800-177631200	Flanking Active TSS	Fetal Thymus	thymus
42	chr5:177630800-177631200	Flanking Active TSS	Pancreas	Pancrea
43	chr5:177630800-177631200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:177630800-177631200	Flanking Active TSS	HepG2	liver
45	chr5:177630800-177631200	Flanking Active TSS	HMEC	breast
46	chr5:177630800-177631200	Flanking Active TSS	HUVEC	blood vessel
47	chr5:177630800-177631200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:177630800-177631200	Flanking Active TSS	NH-A	brain
49	chr5:177630800-177631200	Flanking Active TSS	Osteobl	bone
50	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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