Variant report

Variant	rs552260522
Chromosome Location	chr5:37249203-37249204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:246)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:246 , 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	MAX	chr5:37248926-37249941	SK-N-SH	brain:	n/a	n/a
2	MAX	chr5:37248886-37249868	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:37248697-37249820	IMR90	lung:	n/a	n/a
4	TAF1	chr5:37248916-37249991	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr5:37248654-37249941	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:37248870-37250333	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr5:37248907-37249819	ECC-1	luminal epithelium:	n/a	chr5:37249491-37249501
8	EP300	chr5:37249164-37249226	HepG2	liver:	n/a	n/a
9	SMARCC2	chr5:37248661-37250239	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:37248995-37249782	A549	lung:	n/a	n/a
11	CTCF	chr5:37249080-37249230	GM12871	blood:	n/a	n/a
12	POLR2A	chr5:37249160-37249530	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:37248853-37249930	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr5:37248976-37249910	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr5:37248968-37250339	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:37249106-37249890	HepG2	liver:	n/a	n/a
17	MAX	chr5:37248769-37250415	A549	lung:	n/a	n/a
18	TCF7L2	chr5:37248557-37250301	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:37248855-37249885	GM12892	blood:	n/a	n/a
20	MAZ	chr5:37248892-37250011	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:37248979-37249841	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:37249005-37249859	PANC-1	pancreas:	n/a	n/a
23	TCF3	chr5:37248974-37249651	GM12878	blood:	n/a	chr5:37249424-37249438
24	TCF12	chr5:37248593-37249798	A549	lung:	n/a	n/a
25	MAX	chr5:37249039-37249858	GM12878	blood:	n/a	n/a
26	NR2F2	chr5:37248952-37249613	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:37248918-37249991	GM18505	blood:	n/a	n/a
28	POLR2A	chr5:37249134-37249682	GM12892	blood:	n/a	n/a
29	CTCF	chr5:37249100-37249250	BE2_C	brain:	n/a	n/a
30	CTCF	chr5:37249200-37249350	HCT-116	colon:	n/a	n/a
31	TCF12	chr5:37248843-37249931	ECC-1	luminal epithelium:	n/a	n/a
32	FOXP2	chr5:37249015-37249753	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr5:37248988-37249884	MCF-7	breast:	n/a	n/a
34	TAF1	chr5:37248878-37249675	A549	lung:	n/a	n/a
35	POLR2A	chr5:37249062-37249792	HCT-116	colon:	n/a	n/a
36	SIN3A	chr5:37248634-37250194	H1-hESC	embryonic stem cell:	n/a	chr5:37249500-37249509 chr5:37249871-37249880
37	POU2F2	chr5:37249003-37249405	GM12878	blood:	n/a	n/a
38	ZNF263	chr5:37248606-37250281	HEK293-T-REx	kidney:	n/a	chr5:37249645-37249654
39	POLR2A	chr5:37248996-37249890	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr5:37248941-37249895	H1-hESC	embryonic stem cell:	n/a	chr5:37249491-37249501 chr5:37249855-37249867
41	STAT1	chr5:37249046-37249424	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:37249016-37249828	A549	lung:	n/a	n/a
43	POLR2A	chr5:37248849-37250161	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr5:37248945-37249860	H1-neurons	neurons:	n/a	n/a
45	RFX5	chr5:37248954-37250236	Hela-S3	cervix:	n/a	n/a
46	MXI1	chr5:37248976-37250172	HepG2	liver:	n/a	n/a
47	MYC	chr5:37249106-37249555	MCF-7	breast:	n/a	n/a
48	RUNX3	chr5:37248972-37249520	GM12878	blood:	n/a	n/a
49	ELK1	chr5:37248885-37249701	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr5:37249013-37249863	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
2	chr3:52016674..52017877-chr5:37249098..37249636,3	Hela-S3	cervix:
3	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
4	chr19:11450158..11450732-chr5:37248969..37249920,2	Hela-S3	cervix:
5	chr5:37248619..37249243-chr7:5562577..5563334,2	Hela-S3	cervix:
6	chr19:10612852..10613551-chr5:37248973..37249815,2	NB4	blood:
7	chr12:54388997..54389960-chr5:37248812..37249668,2	Hela-S3	cervix:
8	chr12:95867838..95868385-chr5:37249139..37249647,2	Hela-S3	cervix:
9	chr16:2517911..2518776-chr5:37248952..37249746,2	Hela-S3	cervix:
10	chr12:27397103..27397782-chr5:37248907..37249410,2	Hela-S3	cervix:
11	chr5:37244319..37247437-chr5:37248031..37251100,3	MCF-7	breast:
12	chr14:64804845..64805497-chr5:37249133..37249826,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-5	chr5:37249174-37249323	NONHSAT101058
2	lnc-WDR70-5	chr5:37248948-37249323	NONHSAT101057

No data

Variant related genes	Relation type
RN7SL37P	TF binding region
C5orf42	TF binding region
ENSG00000259895	Chromatin interaction
ENSG00000211455	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000079999	Chromatin interaction
ENSG00000111142	Chromatin interaction
ENSG00000105514	Chromatin interaction
ENSG00000242493	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000250133	Chromatin interaction
ENSG00000180806	Chromatin interaction
ENSG00000113569	Chromatin interaction
ENSG00000114779	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
12	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
20	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	esv3358042	chr5:37232244-37251247	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
24	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
27	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
28	esv3341332	chr5:37248220-37250768	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr5:37247400-37249800	Active TSS	GM12878-XiMat	blood
2	chr5:37247400-37250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:37247600-37249800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:37247600-37249800	Active TSS	A549	lung
5	chr5:37247800-37249800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:37247800-37250000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr5:37248000-37249800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:37248000-37249800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:37248000-37249800	Active TSS	HSMM	muscle
10	chr5:37248200-37249800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:37248200-37249800	Active TSS	Hela-S3	cervix
12	chr5:37248200-37249800	Active TSS	NHDF-Ad	bronchial
13	chr5:37248200-37250000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:37248200-37250000	Active TSS	Fetal Brain Female	brain
15	chr5:37248200-37250000	Active TSS	Right Atrium	heart
16	chr5:37248400-37249600	Active TSS	NHEK	skin
17	chr5:37248400-37249800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr5:37248400-37249800	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr5:37248400-37249800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:37248400-37249800	Active TSS	Brain Hippocampus Middle	brain
21	chr5:37248400-37249800	Active TSS	Fetal Stomach	stomach
22	chr5:37248400-37249800	Active TSS	Right Ventricle	heart
23	chr5:37248400-37249800	Active TSS	HMEC	breast
24	chr5:37248400-37249800	Active TSS	HSMMtube	muscle
25	chr5:37248400-37249800	Active TSS	NHLF	lung
26	chr5:37248400-37250000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:37248400-37250000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:37248400-37250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:37248400-37250200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:37248400-37250200	Active TSS	Brain Angular Gyrus	brain
31	chr5:37248400-37250200	Active TSS	Psoas Muscle	Psoas
32	chr5:37248400-37250200	Active TSS	Thymus	Thymus
33	chr5:37248600-37249800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:37248600-37249800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:37248600-37249800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:37248600-37249800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:37248600-37249800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:37248600-37249800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:37248600-37249800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:37248600-37249800	Active TSS	Colon Smooth Muscle	Colon
41	chr5:37248600-37249800	Active TSS	Fetal Heart	heart
42	chr5:37248600-37250000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:37248600-37250000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr5:37248600-37250000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:37248600-37250000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:37248600-37250000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:37248600-37250000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr5:37248600-37250000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:37248600-37250000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:37248600-37250000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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