Variant report

Variant	rs113636929
Chromosome Location	chr5:43313713-43313714
allele	A/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	NFIC	chr5:43313690-43314087	HepG2	liver:	n/a	n/a
2	FOS	chr5:43313241-43314166	K562	blood:	n/a	chr5:43313584-43313593 chr5:43313642-43313651 chr5:43313341-43313352
3	MAX	chr5:43313409-43314268	A549	lung:	n/a	n/a
4	RFX5	chr5:43313126-43314121	Hela-S3	cervix:	n/a	chr5:43313984-43313993 chr5:43313800-43313815 chr5:43313979-43313995 chr5:43313982-43313996 chr5:43313627-43313641 chr5:43313980-43313994
5	POLR2A	chr5:43311701-43314619	GM12891	blood:	n/a	n/a
6	EGR1	chr5:43313181-43313746	K562	blood:	n/a	chr5:43313641-43313651
7	REST	chr5:43313138-43314123	HepG2	liver:	n/a	chr5:43313356-43313364
8	RFX5	chr5:43313243-43314251	GM12878	blood:	n/a	chr5:43313984-43313993 chr5:43313800-43313815 chr5:43313979-43313995 chr5:43313982-43313996 chr5:43313627-43313641 chr5:43313980-43313994
9	RUNX3	chr5:43312951-43314167	GM12878	blood:	n/a	n/a
10	SPI1	chr5:43313600-43313952	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:43312347-43313959	K562	blood:	n/a	n/a
12	E2F6	chr5:43313359-43314019	H1-hESC	embryonic stem cell:	n/a	chr5:43313641-43313650 chr5:43313607-43313616 chr5:43313403-43313412
13	USF2	chr5:43313495-43313885	HepG2	liver:	n/a	chr5:43313634-43313650
14	PBX3	chr5:43313623-43314006	GM12878	blood:	n/a	chr5:43313898-43313907
15	BCLAF1	chr5:43313034-43313919	GM12878	blood:	n/a	chr5:43313700-43313709
16	MYC	chr5:43312861-43314190	NB4	blood:	n/a	n/a
17	MAX	chr5:43313221-43314130	H1-hESC	embryonic stem cell:	n/a	n/a
18	SMC3	chr5:43313012-43313939	Hela-S3	cervix:	n/a	n/a
19	USF2	chr5:43313663-43313979	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr5:43312792-43314015	GM12878	blood:	n/a	n/a
21	ELF1	chr5:43312974-43314056	GM12878	blood:	n/a	chr5:43313632-43313641 chr5:43313287-43313299
22	YY1	chr5:43313048-43313999	K562	blood:	n/a	chr5:43313635-43313649
23	MAFK	chr5:43313432-43314151	K562	blood:	n/a	n/a
24	PML	chr5:43312727-43313800	K562	blood:	n/a	n/a
25	ZNF384	chr5:43313350-43314020	K562	blood:	n/a	n/a
26	MAX	chr5:43313202-43314150	SK-N-SH	brain:	n/a	n/a
27	ELK1	chr5:43313432-43314085	K562	blood:	n/a	n/a
28	SIN3A	chr5:43312389-43314206	H1-hESC	embryonic stem cell:	n/a	chr5:43313637-43313646
29	ETS1	chr5:43313192-43313956	K562	blood:	n/a	chr5:43313403-43313414 chr5:43313759-43313766 chr5:43313758-43313772 chr5:43313759-43313770
30	MYBL2	chr5:43313122-43314372	HepG2	liver:	n/a	n/a
31	CREB1	chr5:43313422-43314069	ECC-1	luminal epithelium:	n/a	n/a
32	FOS	chr5:43313257-43313916	HUVEC	blood vessel:	n/a	chr5:43313584-43313593 chr5:43313642-43313651 chr5:43313341-43313352
33	EP300	chr5:43313401-43314109	HepG2	liver:	n/a	n/a
34	TAF1	chr5:43313299-43313744	K562	blood:	n/a	n/a
35	TBP	chr5:43312927-43314065	K562	blood:	n/a	n/a
36	POLR2A	chr5:43313006-43314119	K562	blood:	n/a	n/a
37	POLR2A	chr5:43312966-43313736	GM12891	blood:	n/a	n/a
38	CCNT2	chr5:43313173-43313960	K562	blood:	n/a	n/a
39	SIN3A	chr5:43312653-43314228	GM12878	blood:	n/a	chr5:43313637-43313646
40	STAT3	chr5:43313496-43313885	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:43313104-43313904	HUVEC	blood vessel:	n/a	n/a
42	CHD2	chr5:43312990-43314147	HepG2	liver:	n/a	n/a
43	ELF1	chr5:43312839-43314057	MCF-7	breast:	n/a	chr5:43313632-43313641 chr5:43313287-43313299
44	SPI1	chr5:43313647-43313863	K562	blood:	n/a	n/a
45	RFX5	chr5:43312424-43314698	SK-N-SH	brain:	n/a	chr5:43313984-43313993 chr5:43313800-43313815 chr5:43313979-43313995 chr5:43313982-43313996 chr5:43313627-43313641 chr5:43313980-43313994
46	MYBL2	chr5:43312996-43314329	HepG2	liver:	n/a	n/a
47	BACH1	chr5:43313146-43313828	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr5:43312880-43314011	HepG2	liver:	n/a	n/a
49	REST	chr5:43313592-43314060	PFSK-1	brain:	n/a	n/a
50	EP300	chr5:43313210-43314196	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43313326..43314007-chr5:90676210..90676872,2	Hela-S3	cervix:
3	chr12:51441733..51442384-chr5:43313064..43313818,2	Hela-S3	cervix:
4	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
5	chr11:10326187..10326797-chr5:43313200..43313910,3	Hela-S3	cervix:
6	chr15:50646870..50647644-chr5:43312964..43313963,2	NB4	blood:
7	chr12:77272569..77273439-chr5:43312965..43313782,2	Hela-S3	cervix:
8	chr5:43119704..43122543-chr5:43311544..43313949,2	K562	blood:
9	chr20:30194518..30195107-chr5:43313256..43313840,2	HCT-116	colon:
10	chr5:43313205..43313755-chr6:36562071..36562633,2	Hela-S3	cervix:
11	chr5:43066779..43068606-chr5:43311507..43313844,2	K562	blood:
12	chr5:43064535..43068771-chr5:43312463..43314872,5	MCF-7	breast:
13	chr5:10760496..10761419-chr5:43313096..43313838,2	Hela-S3	cervix:
14	chr5:43313318..43313828-chr5:43483805..43484524,2	Hela-S3	cervix:
15	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
16	chr5:43312211..43314783-chr5:43395042..43398709,5	MCF-7	breast:

Variant related genes	Relation type
HMGCS1	TF binding region
ENSG00000113369	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000272324	Chromatin interaction
ENSG00000112977	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000175183	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1793502	chr5:43313178-43314216	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43310000-43314200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:43310600-43314000	Active TSS	HSMMtube	muscle
3	chr5:43311000-43314000	Active TSS	Fetal Brain Male	brain
4	chr5:43311000-43314000	Active TSS	GM12878-XiMat	blood
5	chr5:43311200-43313800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:43311400-43314200	Active TSS	NHLF	lung
7	chr5:43311800-43314200	Active TSS	Fetal Intestine Large	intestine
8	chr5:43312000-43314000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:43312000-43314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:43312000-43314000	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr5:43312000-43314200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:43312000-43314400	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:43312200-43314000	Active TSS	Esophagus	oesophagus
14	chr5:43312200-43314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:43312400-43314000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:43312400-43314000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:43312400-43314000	Active TSS	NHDF-Ad	bronchial
18	chr5:43312400-43314200	Active TSS	A549	lung
19	chr5:43312400-43314400	Active TSS	Ovary	ovary
20	chr5:43312600-43313800	Active TSS	K562	blood
21	chr5:43312600-43314000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:43312600-43314000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:43312600-43314000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:43312600-43314000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:43312600-43314000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr5:43312600-43314000	Active TSS	Fetal Kidney	kidney
27	chr5:43312600-43314000	Active TSS	Left Ventricle	heart
28	chr5:43312600-43314000	Active TSS	Pancreas	Pancrea
29	chr5:43312600-43314000	Active TSS	HMEC	breast
30	chr5:43312600-43314000	Active TSS	HSMM	muscle
31	chr5:43312600-43314200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:43312600-43314200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:43312600-43314200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:43312600-43314200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:43312600-43314200	Active TSS	Aorta	Aorta
36	chr5:43312600-43314200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:43312600-43314200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:43312600-43314400	Active TSS	Right Ventricle	heart
39	chr5:43312600-43314600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:43312800-43313800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:43312800-43313800	Active TSS	NHEK	skin
42	chr5:43312800-43314000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr5:43312800-43314000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr5:43312800-43314000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr5:43312800-43314000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:43312800-43314000	Active TSS	Thymus	Thymus
47	chr5:43312800-43314000	Active TSS	HUVEC	blood vessel
48	chr5:43312800-43314000	Active TSS	Osteobl	bone
49	chr5:43312800-43314200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:43312800-43314200	Active TSS	Fetal Intestine Small	intestine

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