Variant report

Variant	rs545526771
Chromosome Location	chr5:52405201-52405202
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	TCF12	chr5:52405135-52406035	A549	lung:	n/a	n/a
2	SMC3	chr5:52404785-52405916	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr5:52405144-52405974	ECC-1	luminal epithelium:	n/a	n/a
4	TBP	chr5:52405136-52405980	K562	blood:	n/a	n/a
5	POLR2A	chr5:52405156-52405989	GM19099	blood:	n/a	n/a
6	POLR2A	chr5:52405022-52406119	K562	blood:	n/a	n/a
7	POLR2A	chr5:52404785-52405995	K562	blood:	n/a	n/a
8	POLR2A	chr5:52405156-52406077	U87	brain:	n/a	n/a
9	POLR2A	chr5:52404973-52406398	HepG2	liver:	n/a	n/a
10	TBP	chr5:52404911-52405998	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:52404781-52405999	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:52405192-52406039	GM12878	blood:	n/a	n/a
13	MAFK	chr5:52404851-52405964	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr5:52405141-52405938	K562	blood:	n/a	n/a
15	RCOR1	chr5:52404849-52405906	K562	blood:	n/a	n/a
16	POLR2A	chr5:52404763-52405225	H1-neurons	neurons:	n/a	n/a
17	EGR1	chr5:52405042-52406019	HCT-116	colon:	n/a	chr5:52405648-52405658 chr5:52405598-52405607
18	POLR2A	chr5:52404984-52405974	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:52404965-52406408	K562	blood:	n/a	n/a
20	MAX	chr5:52404852-52406021	SK-N-SH	brain:	n/a	chr5:52405647-52405657
21	POLR2A	chr5:52405163-52405989	GM15510	blood:	n/a	n/a
22	TFAP2C	chr5:52405151-52406265	Hela-S3	cervix:	n/a	n/a
23	HA-E2F1	chr5:52405025-52405980	MCF-7	breast:	n/a	chr5:52405598-52405607 chr5:52405594-52405601 chr5:52405475-52405487 chr5:52405621-52405630
24	POLR2A	chr5:52405190-52406085	MCF-7	breast:	n/a	n/a
25	JUND	chr5:52404816-52405995	K562	blood:	n/a	chr5:52405355-52405369
26	EBF1	chr5:52404941-52405828	GM12878	blood:	n/a	n/a
27	MAX	chr5:52404954-52405933	K562	blood:	n/a	chr5:52405647-52405657
28	POLR2A	chr5:52405174-52406004	GM18951	blood:	n/a	n/a
29	MYC	chr5:52405032-52406040	K562	blood:	n/a	chr5:52405647-52405657
30	POLR2A	chr5:52405119-52406120	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr5:52404767-52405216	Hela-S3	cervix:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
32	TFAP2A	chr5:52405163-52405927	Hela-S3	cervix:	n/a	chr5:52405712-52405727
33	POLR2A	chr5:52405197-52405957	GM12878	blood:	n/a	n/a
34	TCF7L2	chr5:52405161-52405983	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr5:52405079-52406119	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr5:52405199-52405878	IMR90	lung:	n/a	n/a
37	FOXA1	chr5:52404702-52405258	T-47D	breast:	n/a	n/a
38	MAX	chr5:52404802-52406149	A549	lung:	n/a	chr5:52405647-52405657
39	MXI1	chr5:52404860-52406050	GM12878	blood:	n/a	n/a
40	SIN3A	chr5:52404856-52405984	H1-hESC	embryonic stem cell:	n/a	chr5:52405640-52405651
41	CEBPB	chr5:52404789-52405217	MCF-7	breast:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
42	ELF1	chr5:52405151-52405575	K562	blood:	n/a	n/a
43	ELF1	chr5:52405201-52405968	GM12878	blood:	n/a	chr5:52405648-52405660
44	BCLAF1	chr5:52405189-52405768	GM12878	blood:	n/a	n/a
45	MAX	chr5:52404843-52406064	ECC-1	luminal epithelium:	n/a	chr5:52405647-52405657
46	NRF1	chr5:52405073-52406077	SK-N-SH	brain:	n/a	chr5:52405596-52405607 chr5:52405597-52405611 chr5:52405620-52405631 chr5:52405597-52405608 chr5:52405649-52405658 chr5:52405667-52405678 chr5:52405650-52405661
47	TAF1	chr5:52405108-52405897	GM12878	blood:	n/a	n/a
48	GTF2F1	chr5:52404951-52405989	Hela-S3	cervix:	n/a	n/a
49	ARID3A	chr5:52405155-52405341	K562	blood:	n/a	n/a
50	REST	chr5:52404904-52406190	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:52384729..52387843-chr5:52404184..52407459,4	MCF-7	breast:
2	chr17:58469116..58469940-chr5:52405166..52406062,2	MCF-7	breast:
3	chr5:52282064..52285632-chr5:52404082..52406997,3	MCF-7	breast:
4	chr3:156391977..156392928-chr5:52404476..52405230,2	Hela-S3	cervix:
5	chr5:52405061..52405947-chr9:131445854..131446584,2	HCT-116	colon:

Variant related genes	Relation type
MOCS2	TF binding region
ENSG00000247796	TF binding region
ENSG00000119335	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000272123	Chromatin interaction
ENSG00000164171	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv442948	chr5:52404519-52409439	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
2	chr5:52403800-52406600	Active TSS	K562	blood
3	chr5:52404000-52406200	Active TSS	NHLF	lung
4	chr5:52404200-52406000	Active TSS	NHEK	skin
5	chr5:52404400-52405600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:52404400-52406400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52404400-52406400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:52404400-52406400	Active TSS	Psoas Muscle	Psoas
9	chr5:52404400-52406400	Active TSS	GM12878-XiMat	blood
10	chr5:52404600-52405400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr5:52404600-52406000	Active TSS	Fetal Stomach	stomach
12	chr5:52404600-52406000	Active TSS	Stomach Smooth Muscle	stomach
13	chr5:52404600-52406000	Active TSS	HMEC	breast
14	chr5:52404600-52406200	Active TSS	Brain Hippocampus Middle	brain
15	chr5:52404600-52406200	Active TSS	Colon Smooth Muscle	Colon
16	chr5:52404600-52406200	Active TSS	Fetal Intestine Large	intestine
17	chr5:52404600-52406400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:52404600-52406400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:52404600-52406400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:52404600-52406400	Active TSS	Brain Anterior Caudate	brain
21	chr5:52404600-52406600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:52404600-52406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:52404600-52406600	Active TSS	A549	lung
24	chr5:52404600-52406600	Active TSS	HepG2	liver
25	chr5:52404600-52406600	Active TSS	NHDF-Ad	bronchial
26	chr5:52404600-52407000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:52404800-52405400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr5:52404800-52405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:52404800-52405800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:52404800-52405800	Active TSS	Primary T cells fromperipheralblood	blood
31	chr5:52404800-52405800	Active TSS	Liver	Liver
32	chr5:52404800-52405800	Active TSS	Fetal Muscle Trunk	muscle
33	chr5:52404800-52405800	Active TSS	Placenta	Placenta
34	chr5:52404800-52406000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:52404800-52406000	Active TSS	Colonic Mucosa	Colon
36	chr5:52404800-52406000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr5:52404800-52406000	Active TSS	Fetal Muscle Leg	muscle
38	chr5:52404800-52406000	Active TSS	Thymus	Thymus
39	chr5:52404800-52406200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:52404800-52406200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:52404800-52406200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:52404800-52406200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:52404800-52406200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:52404800-52406200	Active TSS	Aorta	Aorta
45	chr5:52404800-52406200	Active TSS	Esophagus	oesophagus
46	chr5:52404800-52406200	Active TSS	Fetal Kidney	kidney
47	chr5:52404800-52406200	Active TSS	Fetal Thymus	thymus
48	chr5:52404800-52406200	Active TSS	Rectal Smooth Muscle	rectum
49	chr5:52404800-52406400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:52404800-52406400	Active TSS	H9 Cell Line	embryonic stem cell

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