Variant report

Variant	rs546069445
Chromosome Location	chr5:41903520-41903521
allele	A/G
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	POLR2A	chr5:41903495-41906038	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr5:41903483-41904774	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:41903212-41907438	K562	blood:	n/a	n/a
4	MXI1	chr5:41903477-41905299	IMR90	lung:	n/a	chr5:41904434-41904443 chr5:41904436-41904445
5	NFYA	chr5:41903500-41905041	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:41903074-41905268	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr5:41903320-41905340	K562	blood:	n/a	n/a
8	RCOR1	chr5:41903209-41904860	K562	blood:	n/a	n/a
9	HCFC1	chr5:41903266-41905374	Hela-S3	cervix:	n/a	n/a
10	SETDB1	chr5:41903402-41904484	U2OS	brain:	n/a	n/a
11	MXI1	chr5:41903450-41905459	SK-N-SH	brain:	n/a	chr5:41904434-41904443 chr5:41904436-41904445
12	POLR2A	chr5:41903357-41906392	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr5:41903380-41903530	AG04450	lung:	n/a	n/a
14	IKZF1	chr5:41903494-41904473	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:41903497-41905035	GM12878	blood:	n/a	n/a
16	GABPA	chr5:41903348-41904956	MCF-7	breast:	n/a	chr5:41904593-41904602
17	MYC	chr5:41903324-41905196	K562	blood:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
18	MAFK	chr5:41903515-41903713	HepG2	liver:	n/a	chr5:41903614-41903630
19	EP300	chr5:41903493-41905186	K562	blood:	n/a	chr5:41903700-41903714 chr5:41904139-41904155 chr5:41904968-41904982
20	MAFK	chr5:41903412-41905176	K562	blood:	n/a	chr5:41903614-41903630
21	IRF1	chr5:41903439-41904630	K562	blood:	n/a	chr5:41903940-41903953 chr5:41904071-41904080 chr5:41903701-41903715 chr5:41904004-41904016 chr5:41903705-41903715 chr5:41903704-41903716 chr5:41903706-41903722
22	TBL1XR1	chr5:41903502-41905028	K562	blood:	n/a	n/a
23	POLR2A	chr5:41903435-41903579	MCF10A-Er-Src	breast:	n/a	n/a
24	MTA3	chr5:41903400-41905205	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:41903132-41905728	GM12891	blood:	n/a	n/a
26	POLR2A	chr5:41903151-41905198	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:41903494-41904885	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:
2	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
3	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
4	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:
5	chr19:35739945..35740464-chr5:41903086..41904056,2	Hela-S3	cervix:
6	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:

Variant related genes	Relation type
C5orf51	TF binding region
ENSG00000105699	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv327668	chr5:41901383-41909830	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv3469161	chr5:41901765-41903841	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3508784	chr5:41901813-41903820	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3469160	chr5:41901819-41903820	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3469164	chr5:41901829-41903802	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
11	esv3508788	chr5:41901833-41903785	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	esv3469162	chr5:41901853-41903778	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	esv3508789	chr5:41901860-41903770	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv13889	chr5:41901871-41903659	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3469159	chr5:41901905-41903722	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv3508787	chr5:41901915-41903724	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	esv3469165	chr5:41901920-41903719	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
18	esv3508790	chr5:41901920-41903719	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	nsv597881	chr5:41901966-41903583	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
21	nsv597883	chr5:41902330-41903583	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv597884	chr5:41902622-41903583	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41900000-41903800	Weak transcription	Gastric	stomach
2	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:41903000-41903600	Active TSS	Fetal Brain Male	brain
4	chr5:41903000-41904000	Flanking Active TSS	Dnd41	blood
5	chr5:41903000-41905200	Active TSS	Brain Hippocampus Middle	brain
6	chr5:41903200-41903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:41903200-41903600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:41903200-41903600	Enhancers	Fetal Stomach	stomach
9	chr5:41903200-41903600	Enhancers	Hela-S3	cervix
10	chr5:41903200-41905400	Active TSS	GM12878-XiMat	blood
11	chr5:41903400-41903600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:41903400-41903600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:41903400-41903600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:41903400-41903600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:41903400-41903600	Active TSS	Primary B cells from cord blood	blood
16	chr5:41903400-41903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:41903400-41903600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:41903400-41903600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:41903400-41903600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:41903400-41903600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:41903400-41903600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:41903400-41903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:41903400-41903600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:41903400-41903600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:41903400-41903600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:41903400-41903600	Enhancers	Adipose Nuclei	Adipose
27	chr5:41903400-41903600	Enhancers	Brain Angular Gyrus	brain
28	chr5:41903400-41903600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:41903400-41903600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:41903400-41903600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:41903400-41903600	Active TSS	HSMMtube	muscle
32	chr5:41903400-41903600	Enhancers	NHEK	skin
33	chr5:41903400-41903800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr5:41903400-41903800	Flanking Active TSS	Fetal Brain Female	brain
35	chr5:41903400-41903800	Flanking Active TSS	Fetal Kidney	kidney
36	chr5:41903400-41903800	Flanking Active TSS	Fetal Lung	lung
37	chr5:41903400-41903800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr5:41903400-41904000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:41903400-41904000	Flanking Active TSS	HepG2	liver
40	chr5:41903400-41904000	Flanking Active TSS	K562	blood
41	chr5:41903400-41904200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:41903400-41904800	Active TSS	Liver	Liver
43	chr5:41903400-41905000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:41903400-41905000	Active TSS	Brain Substantia Nigra	brain
45	chr5:41903400-41905000	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:41903400-41905200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:41903400-41905200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:41903400-41905400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:41903400-41905400	Active TSS	A549	lung
50	chr5:41903400-41905600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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