Variant report

Variant	rs6892853
Chromosome Location	chr5:92956865-92956866
allele	C/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	chr5:92956265-92957480	MCF-7	breast:	n/a	n/a
2	CTCF	chr5:92956720-92956870	SK-N-SH_RA	brain:	n/a	chr5:92956860-92956870
3	MAX	chr5:92956127-92957600	HepG2	liver:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
4	POLR2A	chr5:92956583-92957534	A549	lung:	n/a	n/a
5	MAZ	chr5:92956645-92957593	HepG2	liver:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
6	POLR2A	chr5:92956199-92957559	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr5:92956780-92957500	MCF-7	breast:	n/a	n/a
8	ZBTB7A	chr5:92956178-92957358	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr5:92956090-92956951	HCT-116	colon:	n/a	chr5:92956868-92956877
10	SP1	chr5:92956067-92957694	A549	lung:	n/a	chr5:92957134-92957148 chr5:92957005-92957014 chr5:92957003-92957015 chr5:92957004-92957013 chr5:92957223-92957244 chr5:92957003-92957015 chr5:92957004-92957018 chr5:92957004-92957014
11	SIN3AK20	chr5:92956118-92956966	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:92956316-92957147	ProgFib	skin:	n/a	n/a
13	MAX	chr5:92956007-92957700	A549	lung:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
14	POLR2A	chr5:92956715-92957484	A549	lung:	n/a	n/a
15	CREB1	chr5:92956118-92957651	HepG2	liver:	n/a	n/a
16	E2F6	chr5:92956096-92956952	A549	lung:	n/a	chr5:92956873-92956883
17	MYC	chr5:92956824-92956916	HUVEC	blood vessel:	n/a	chr5:92956868-92956877
18	MYC	chr5:92956584-92957379	MCF-7	breast:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
19	POLR2A	chr5:92956787-92957503	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:92956793-92957149	HUVEC	blood vessel:	n/a	n/a
21	ZBTB7A	chr5:92956759-92957571	ECC-1	luminal epithelium:	n/a	n/a
22	FOXP2	chr5:92956265-92956942	PFSK-1	brain:	n/a	n/a
23	MAX	chr5:92956226-92957593	ECC-1	luminal epithelium:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
24	RAD21	chr5:92955577-92958984	SK-N-SH	brain:	n/a	chr5:92957068-92957078
25	POLR2A	chr5:92956351-92957579	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:92956643-92956914	U87	brain:	n/a	n/a
27	CTCF	chr5:92955985-92956936	SK-N-SH	brain:	n/a	chr5:92956860-92956870
28	MAX	chr5:92956132-92957614	SK-N-SH	brain:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
29	POLR2A	chr5:92956663-92956919	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr5:92956263-92957564	HEK293	kidney:	n/a	n/a
31	POLR2A	chr5:92956064-92957542	H1-neurons	neurons:	n/a	n/a
32	CTCF	chr5:92956840-92956990	BE2_C	brain:	n/a	chr5:92956860-92956870
33	POLR2A	chr5:92956751-92957504	A549	lung:	n/a	n/a
34	POLR2A	chr5:92956765-92957470	A549	lung:	n/a	n/a
35	PAX5	chr5:92956708-92956885	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:92956194-92957621	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr5:92956266-92956905	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:92956439-92957381	HepG2	liver:	n/a	n/a
39	MAX	chr5:92956124-92957627	HepG2	liver:	n/a	chr5:92956868-92956877 chr5:92957006-92957016
40	BRCA1	chr5:92956715-92956873	HepG2	liver:	n/a	n/a
41	MXI1	chr5:92956217-92957567	HepG2	liver:	n/a	n/a
42	POLR2A	chr5:92956716-92957422	MCF-7	breast:	n/a	n/a
43	MXI1	chr5:92955935-92958518	IMR90	lung:	n/a	n/a
44	CTCF	chr5:92956720-92956870	GM12878	blood:	n/a	chr5:92956860-92956870
45	POLR2A	chr5:92956765-92956935	A549	lung:	n/a	n/a
46	MXI1	chr5:92956256-92956871	GM12878	blood:	n/a	n/a
47	MAX	chr5:92956207-92956883	GM12878	blood:	n/a	chr5:92956868-92956877
48	POLR2A	chr5:92956131-92958546	U87	brain:	n/a	n/a
49	CHD1	chr5:92956041-92958478	IMR90	lung:	n/a	n/a
50	MAX	chr5:92956199-92957538	ECC-1	luminal epithelium:	n/a	chr5:92956868-92956877 chr5:92957006-92957016

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92956826-92956876	RPTEC	kidney:	n/a
2	chr5:92956826-92956876	NHBE	bronchial:	n/a
3	chr5:92956826-92956876	AG09319	gingival:	n/a
4	chr5:92956826-92956876	A549	lung:	n/a
5	chr5:92956826-92956876	AG09309	skin:	n/a
6	chr5:92956826-92956876	SK-N-SH_RA	brain:	n/a
7	chr5:92956826-92956876	HepG2	liver:	n/a
8	chr5:92956826-92956876	AoSMC	blood vessel:	n/a
9	chr5:92956826-92956876	HUVEC	blood vessel:	n/a
10	chr5:92956826-92956876	HCF	heart:	n/a
11	chr5:92956826-92956876	GM12891	blood:	n/a
12	chr5:92956826-92956876	U87	brain:	n/a
13	chr5:92956826-92956876	AG04450	lung:	fetal
14	chr5:92956826-92956876	PrEC	prostate:	n/a
15	chr5:92956826-92956876	HRCEpiC	kidney:	n/a
16	chr5:92956826-92956876	PFSK-1	brain:	n/a
17	chr5:92956826-92956876	HEEpiC	esophagus:	n/a
18	chr5:92956826-92956876	HCPEpiC	choroid plexus:	n/a
19	chr5:92956826-92956876	ProgFib	skin:	n/a
20	chr5:92956826-92956876	HCM	heart:	n/a
21	chr5:92956826-92956876	GM19239	blood:	n/a
22	chr5:92956826-92956876	H1-hESC	embryonic stem cell:	embryo
23	chr5:92956826-92956876	GM12878	blood:	n/a
24	chr5:92956826-92956876	LNCaP	prostate:	n/a
25	chr5:92956826-92956876	CMK	blood:	n/a
26	chr5:92956826-92956876	AG10803	skin:	n/a
27	chr5:92956826-92956876	NB4	blood:	n/a
28	chr5:92956826-92956876	AG04449	skin:	fetal
29	chr5:92956826-92956876	HMEC	breast:	n/a
30	chr5:92956826-92956876	HL-60	blood:	n/a
31	chr5:92956826-92956876	Jurkat	blood:	n/a
32	chr5:92956826-92956876	BE2_C	brain:	n/a
33	chr5:92956826-92956876	NH-A	brain:	n/a
34	chr5:92956826-92956876	SK-N-SH	brain:	n/a
35	chr5:92956826-92956876	HNPCEpiC	eye:	n/a
36	chr5:92956826-92956876	PANC-1	pancreas:	n/a
37	chr5:92956826-92956876	BJ	skin:	n/a
38	chr5:92956826-92956876	MCF-7	breast:	n/a
39	chr5:92956826-92956876	T-47D	breast:	n/a
40	chr5:92956826-92956876	ovcar-3	ovarian:	n/a
41	chr5:92956826-92956876	MCF10A-Er-Src	breast:	n/a
42	chr5:92956826-92956876	Caco-2	colon:	n/a
43	chr5:92956826-92956876	NT2-D1	testis:	n/a
44	chr5:92956826-92956876	HCT-116	colon:	n/a
45	chr5:92956826-92956876	K562	blood:	n/a
46	chr5:92956826-92956876	SAEC	small airway:	n/a
47	chr5:92956826-92956876	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:92956826-92956876	HEK293	kidney:	embryo
49	chr5:92956826-92956876	HAEpiC	amniotic membrane:	n/a
50	chr5:92956826-92956876	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92956753..92958521-chr5:92999951..93002284,2	MCF-7	breast:

Variant related genes	Relation type
MIR2277	TF binding region
MIR2277	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1046217	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514376	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17083264	0.80[EUR][1000 genomes]
rs17083278	0.87[ASN][1000 genomes]
rs17083280	0.87[ASN][1000 genomes]
rs2279473	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3776601	0.80[ASN][1000 genomes]
rs56069221	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56259161	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57924239	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58143801	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237393	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919600	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59544418	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60553989	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60827958	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61110137	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61429325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556828	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556829	0.90[ASN][1000 genomes]
rs6884138	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135320	0.80[ASN][1000 genomes]
rs73135321	0.80[ASN][1000 genomes]
rs73135334	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73135354	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73135367	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135371	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135373	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73135374	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135376	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73135377	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7704972	0.90[ASN][1000 genomes]
rs7710106	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7712388	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721168	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7721509	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7731223	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92955600-92958200	Active TSS	Fetal Brain Female	brain
2	chr5:92955600-92958600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:92955800-92957200	Active TSS	Brain Germinal Matrix	brain
4	chr5:92955800-92957400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:92955800-92957400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:92955800-92957600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:92955800-92957600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:92955800-92957600	Active TSS	HSMMtube	muscle
9	chr5:92955800-92957600	Active TSS	NHLF	lung
10	chr5:92955800-92957800	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:92955800-92958000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr5:92955800-92958000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:92955800-92958200	Active TSS	Brain Angular Gyrus	brain
14	chr5:92956000-92957200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:92956000-92957200	Active TSS	Fetal Muscle Leg	muscle
16	chr5:92956000-92957200	Active TSS	Placenta	Placenta
17	chr5:92956000-92957200	Active TSS	GM12878-XiMat	blood
18	chr5:92956000-92957400	Active TSS	A549	lung
19	chr5:92956000-92957600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:92956000-92957600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:92956000-92957600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:92956000-92957600	Active TSS	Fetal Kidney	kidney
23	chr5:92956000-92957600	Active TSS	Ovary	ovary
24	chr5:92956000-92957600	Active TSS	HSMM	muscle
25	chr5:92956000-92957600	Active TSS	NHDF-Ad	bronchial
26	chr5:92956000-92957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:92956000-92957800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:92956000-92957800	Active TSS	Rectal Smooth Muscle	rectum
29	chr5:92956000-92957800	Active TSS	Right Ventricle	heart
30	chr5:92956000-92958000	Active TSS	Brain Cingulate Gyrus	brain
31	chr5:92956000-92958200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:92956200-92957200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:92956200-92957400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:92956200-92957400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:92956200-92957400	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr5:92956200-92957400	Active TSS	Duodenum Mucosa	Duodenum
37	chr5:92956200-92957400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr5:92956200-92957600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:92956200-92957600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:92956200-92957600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:92956200-92957600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:92956200-92957600	Flanking Active TSS	Liver	Liver
43	chr5:92956200-92957600	Active TSS	Brain Substantia Nigra	brain
44	chr5:92956200-92957600	Active TSS	Colonic Mucosa	Colon
45	chr5:92956200-92957600	Active TSS	Fetal Lung	lung
46	chr5:92956200-92957600	Active TSS	Fetal Muscle Trunk	muscle
47	chr5:92956200-92957600	Active TSS	Pancreas	Pancrea
48	chr5:92956200-92957600	Active TSS	Psoas Muscle	Psoas
49	chr5:92956200-92957600	Active TSS	Hela-S3	cervix
50	chr5:92956200-92957600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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