Variant report

Variant	rs7702883
Chromosome Location	chr5:40756681-40756682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:40755061-40756695	NB4	blood:	n/a	n/a
2	MXI1	chr5:40754160-40756692	SK-N-SH	brain:	n/a	n/a
3	ZNF384	chr5:40755980-40756709	K562	blood:	n/a	n/a
4	CTCF	chr5:40754660-40756871	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:40755042-40756743	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr5:40755712-40756880	K562	blood:	n/a	n/a
7	ZMIZ1	chr5:40755714-40756904	K562	blood:	n/a	n/a
8	SMARCB1	chr5:40755186-40757194	Hela-S3	cervix:	n/a	n/a
9	HCFC1	chr5:40754098-40757029	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:40755164-40756870	PANC-1	pancreas:	n/a	n/a
11	MYC	chr5:40755617-40756845	A549	lung:	n/a	n/a
12	JUN	chr5:40753664-40756998	K562	blood:	n/a	n/a
13	POLR2A	chr5:40755833-40756814	HL-60	blood:	n/a	n/a
14	MAZ	chr5:40755093-40756814	K562	blood:	n/a	n/a
15	SMARCC1	chr5:40755199-40756810	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr5:40755913-40756793	K562	blood:	n/a	n/a
17	POLR2A	chr5:40755406-40756819	MCF-7	breast:	n/a	n/a
18	RCOR1	chr5:40754777-40756777	K562	blood:	n/a	n/a
19	MTA3	chr5:40755012-40756704	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:40754695-40757058	HepG2	liver:	n/a	n/a
21	SMC3	chr5:40755942-40756747	K562	blood:	n/a	n/a
22	HA-E2F1	chr5:40755191-40756800	MCF-7	breast:	n/a	chr5:40756175-40756186
23	ESRRA	chr5:40754122-40757012	GM12878	blood:	n/a	n/a
24	E2F6	chr5:40755148-40756712	K562	blood:	n/a	chr5:40756176-40756187
25	TEAD4	chr5:40755702-40756822	K562	blood:	n/a	n/a
26	POLR2A	chr5:40755187-40759283	K562	blood:	n/a	n/a
27	PML	chr5:40755606-40756685	GM12878	blood:	n/a	n/a
28	MYC	chr5:40755130-40756760	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr5:40754331-40756800	K562	blood:	n/a	n/a
30	E2F6	chr5:40755731-40756702	A549	lung:	n/a	chr5:40756176-40756187
31	CBX3	chr5:40755724-40756808	K562	blood:	n/a	n/a
32	HCFC1	chr5:40755023-40756690	K562	blood:	n/a	n/a
33	BCL3	chr5:40755136-40756701	A549	lung:	n/a	chr5:40755643-40755656
34	POLR2A	chr5:40755151-40757369	Hela-S3	cervix:	n/a	n/a
35	ZNF143	chr5:40754728-40756718	K562	blood:	n/a	chr5:40756407-40756425
36	MAX	chr5:40754962-40756744	A549	lung:	n/a	n/a
37	TBL1XR1	chr5:40755697-40756792	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40753118..40757884-chr5:40795999..40799979,7	MCF-7	breast:
2	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
3	chr5:40756184..40758054-chr5:40828645..40830929,3	MCF-7	breast:
4	chr5:40756110..40758035-chr5:40758350..40760139,2	K562	blood:
5	chr5:40752834..40759871-chr5:40793841..40803866,19	K562	blood:
6	chr5:40752864..40755012-chr5:40756548..40758806,2	MCF-7	breast:
7	chr5:40753631..40759305-chr5:40833742..40838306,12	K562	blood:
8	chr5:40755529..40757354-chr5:40840291..40841871,2	K562	blood:
9	chr5:40755529..40757855-chr5:40840073..40841871,2	K562	blood:
10	chr5:40753823..40758906-chr5:40833676..40836936,8	MCF-7	breast:
11	chr5:40754814..40759259-chr5:40796869..40798614,4	MCF-7	breast:
12	chr5:40752681..40758776-chr5:40831589..40836413,12	MCF-7	breast:
13	chr5:40752902..40758869-chr5:40832024..40838409,16	K562	blood:
14	chr5:40755012..40759487-chr5:40796000..40799940,8	K562	blood:
15	chr5:40753845..40758533-chr5:40769118..40772000,4	K562	blood:

No data

Variant related genes	Relation type
TTC33	TF binding region
ENSG00000145592	Chromatin interaction
ENSG00000132357	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1002423	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1002424	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071679	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074991	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13361707	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329353	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28544962	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3805487	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805495	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805497	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957352	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58692207	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58751240	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59133000	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59338019	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59585832	0.99[ASN][1000 genomes]
rs6868517	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705504	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 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	chr5:40756000-40761600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:40756000-40776000	Weak transcription	Aorta	Aorta
3	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
4	chr5:40756200-40756800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:40756200-40756800	Flanking Active TSS	Dnd41	blood
6	chr5:40756200-40756800	Flanking Active TSS	Hela-S3	cervix
7	chr5:40756200-40766800	Weak transcription	Small Intestine	intestine
8	chr5:40756200-40775200	Weak transcription	Stomach Mucosa	stomach
9	chr5:40756200-40797200	Weak transcription	Gastric	stomach
10	chr5:40756400-40757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:40756400-40758200	Weak transcription	NH-A	brain
12	chr5:40756400-40759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:40756400-40760800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:40756400-40761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:40756400-40761400	Weak transcription	HMEC	breast
16	chr5:40756400-40761400	Weak transcription	HUVEC	blood vessel
17	chr5:40756400-40761600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:40756400-40761600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:40756400-40761800	Weak transcription	HSMMtube	muscle
20	chr5:40756400-40762000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:40756400-40762000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:40756400-40762000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:40756400-40762000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:40756400-40762000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:40756400-40762000	Weak transcription	Thymus	Thymus
26	chr5:40756400-40762600	Weak transcription	Fetal Kidney	kidney
27	chr5:40756400-40762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:40756400-40764000	Weak transcription	Ovary	ovary
29	chr5:40756400-40764200	Weak transcription	Colonic Mucosa	Colon
30	chr5:40756400-40764600	Weak transcription	Fetal Lung	lung
31	chr5:40756400-40773800	Weak transcription	Lung	lung
32	chr5:40756400-40775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:40756400-40776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:40756400-40776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:40756400-40776800	Weak transcription	Psoas Muscle	Psoas
36	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
37	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:40756600-40756800	Transcr. at gene 5' and 3'	K562	blood
40	chr5:40756600-40757200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:40756600-40757600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:40756600-40757800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:40756600-40758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:40756600-40758000	Weak transcription	HSMM	muscle
45	chr5:40756600-40758400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:40756600-40758600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr5:40756600-40758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:40756600-40759000	Weak transcription	Liver	Liver
49	chr5:40756600-40759000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:40756600-40759400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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