Variant report

Variant	rs373995816
Chromosome Location	chr5:43516054-43516055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43514596-43516073	Raji	blood:	n/a	n/a
2	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
3	YY1	chr5:43515831-43516267	GM12878	blood:	n/a	chr5:43516012-43516024
4	MYC	chr5:43514687-43516197	K562	blood:	n/a	n/a
5	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
7	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:43514800-43516080	MCF-7	breast:	n/a	n/a
9	YY1	chr5:43515706-43516138	K562	blood:	n/a	chr5:43516012-43516024
10	USF2	chr5:43514703-43516121	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:43514505-43516062	SK-N-MC	brain:	n/a	n/a
12	MYC	chr5:43514699-43516167	NB4	blood:	n/a	n/a
13	YY1	chr5:43515840-43516130	HepG2	liver:	n/a	chr5:43516012-43516024
14	GTF2F1	chr5:43514597-43516174	Hela-S3	cervix:	n/a	n/a
15	YY1	chr5:43515834-43516207	GM12892	blood:	n/a	chr5:43516012-43516024
16	POLR2A	chr5:43515769-43516097	HepG2	liver:	n/a	n/a
17	MAX	chr5:43514640-43516222	HCT-116	colon:	n/a	n/a
18	POLR2A	chr5:43514706-43516082	GM12878	blood:	n/a	n/a
19	RFX5	chr5:43514558-43516085	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:43514632-43516366	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:43514609-43516112	HL-60	blood:	n/a	n/a
22	YY1	chr5:43515905-43516163	GM12878	blood:	n/a	chr5:43516012-43516024
23	YY1	chr5:43514783-43516183	SK-N-SH	brain:	n/a	chr5:43515318-43515332 chr5:43516012-43516024
24	MAX	chr5:43514661-43516200	NB4	blood:	n/a	n/a
25	YY1	chr5:43515806-43516183	SK-N-SH_RA	brain:	n/a	chr5:43516012-43516024
26	BRCA1	chr5:43515802-43516171	Hela-S3	cervix:	n/a	n/a
27	YY1	chr5:43515896-43516145	H1-hESC	embryonic stem cell:	n/a	chr5:43516012-43516024
28	PML	chr5:43514481-43516085	GM12878	blood:	n/a	n/a
29	YY1	chr5:43515854-43516280	GM12891	blood:	n/a	chr5:43516012-43516024
30	GABPA	chr5:43514400-43516146	MCF-7	breast:	n/a	n/a
31	GABPA	chr5:43514511-43516110	A549	lung:	n/a	n/a
32	POLR2A	chr5:43514580-43516140	GM12892	blood:	n/a	n/a
33	KAP1	chr5:43514696-43516086	HEK293	kidney:	n/a	n/a
34	POLR2A	chr5:43514613-43516436	GM12891	blood:	n/a	n/a
35	TRIM28	chr5:43514568-43516097	K562	blood:	n/a	n/a
36	UBTF	chr5:43515916-43516066	K562	blood:	n/a	n/a
37	TBP	chr5:43514193-43516109	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:43514350-43516080	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:43514974-43516057	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr1:156470720..156471325-chr5:43515481..43516077,2	Hela-S3	cervix:
4	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
5	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
6	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
7	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
8	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
9	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
10	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
11	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
12	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
13	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
14	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
15	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
16	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-1	chr5:43515956-43516066	ENSG00000248240.1

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000151881	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
2	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:43514200-43516200	Active TSS	Right Atrium	heart
7	chr5:43514400-43516400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:43514600-43516200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:43514600-43516200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:43514600-43516200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:43514800-43516200	Active TSS	Fetal Kidney	kidney
12	chr5:43515000-43516200	Active TSS	Brain Anterior Caudate	brain
13	chr5:43515000-43516200	Active TSS	Duodenum Mucosa	Duodenum
14	chr5:43515400-43516400	Flanking Active TSS	Hela-S3	cervix
15	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
17	chr5:43515600-43516200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:43515600-43516200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:43515600-43516200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:43515600-43516200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr5:43515600-43516200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr5:43515600-43516200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:43515600-43516200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:43515600-43516200	Flanking Active TSS	Osteobl	bone
25	chr5:43515600-43516400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:43515600-43516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:43515600-43516400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:43515600-43516400	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr5:43515600-43516400	Flanking Active TSS	Dnd41	blood
30	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:43515600-43523800	Weak transcription	Gastric	stomach
33	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
34	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
35	chr5:43515800-43516200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:43515800-43516200	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:43515800-43516200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:43515800-43516200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr5:43515800-43516200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr5:43515800-43516200	Flanking Active TSS	Fetal Lung	lung
41	chr5:43515800-43516200	Flanking Active TSS	A549	lung
42	chr5:43515800-43516200	Flanking Active TSS	HepG2	liver
43	chr5:43515800-43516200	Flanking Active TSS	HMEC	breast
44	chr5:43515800-43516200	Flanking Active TSS	HSMMtube	muscle
45	chr5:43515800-43516400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:43515800-43516400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr5:43515800-43516400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:43515800-43516400	Flanking Active TSS	K562	blood
49	chr5:43515800-43523400	Weak transcription	Lung	lung
50	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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