Variant report

Variant	rs71627568
Chromosome Location	chr5:43018123-43018124
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr5:43018069-43018314	HepG2	liver:	n/a	n/a
2	SIX5	chr5:43018035-43018667	A549	lung:	n/a	n/a
3	SIN3A	chr5:43017716-43018692	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:43018004-43018482	HepG2	liver:	n/a	n/a
5	CTCF	chr5:43018020-43018170	GM12864	blood:	n/a	n/a
6	MXI1	chr5:43017946-43018651	HepG2	liver:	n/a	n/a
7	HCFC1	chr5:43017089-43021486	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr5:43017970-43018249	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:43018057-43018373	GM12892	blood:	n/a	n/a
10	ELK4	chr5:43017829-43018507	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:43017492-43018799	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:43017355-43018707	GM12878	blood:	n/a	n/a
13	TAF1	chr5:43017823-43018731	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:43017887-43018725	HUVEC	blood vessel:	n/a	n/a
15	E2F6	chr5:43017929-43018685	Hela-S3	cervix:	n/a	n/a
16	MAX	chr5:43017428-43018733	HepG2	liver:	n/a	n/a
17	NFYB	chr5:43017993-43018365	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:43017892-43018645	HCT-116	colon:	n/a	n/a
19	YY1	chr5:43017901-43018744	ECC-1	luminal epithelium:	n/a	chr5:43018560-43018572
20	CTCF	chr5:43017980-43018130	HCM	heart:	n/a	n/a
21	EP300	chr5:43017938-43018440	GM12878	blood:	n/a	n/a
22	KAP1	chr5:43017794-43018637	U2OS	brain:	n/a	n/a
23	FOSL1	chr5:43017877-43018263	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:43017228-43018821	HUVEC	blood vessel:	n/a	n/a
25	SP1	chr5:43017858-43018323	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr5:43017775-43018587	A549	lung:	n/a	n/a
27	EGR1	chr5:43017992-43018266	GM12878	blood:	n/a	n/a
28	CREB1	chr5:43017906-43018698	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr5:43017378-43018705	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:43017928-43018387	HepG2	liver:	n/a	n/a
31	ZNF143	chr5:43017673-43018661	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF143	chr5:43017543-43018637	GM12878	blood:	n/a	n/a
33	ELF1	chr5:43017889-43018763	GM12878	blood:	n/a	n/a
34	RAD21	chr5:43017981-43018367	SK-N-SH_RA	brain:	n/a	n/a
35	POLR2A	chr5:43017361-43020879	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:43017326-43018814	PFSK-1	brain:	n/a	n/a
37	TAF1	chr5:43017937-43018463	HepG2	liver:	n/a	n/a
38	TCF12	chr5:43017993-43018298	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr5:43017545-43018727	SK-N-SH	brain:	n/a	chr5:43018560-43018572
40	POLR2A	chr5:43017243-43020794	GM12878	blood:	n/a	n/a
41	BHLHE40	chr5:43017813-43018651	GM12878	blood:	n/a	n/a
42	MAX	chr5:43017494-43018750	NB4	blood:	n/a	n/a
43	TAF1	chr5:43017832-43018693	GM12891	blood:	n/a	n/a
44	TCF7L2	chr5:43018022-43018608	PANC-1	pancreas:	n/a	n/a
45	CHD2	chr5:43017963-43018521	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr5:43018120-43018270	GM12874	blood:	n/a	n/a
47	EBF1	chr5:43017949-43018348	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr5:43017806-43018657	A549	lung:	n/a	n/a
49	RCOR1	chr5:43017469-43018741	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:43018040-43018190	MCF-7	breast:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:5022257..5022962-chr5:43017640..43018304,2	Hela-S3	cervix:
2	chr5:43015093..43022227-chr5:43063428..43069370,31	MCF-7	breast:
3	chr5:40796840..40798415-chr5:43016929..43019400,2	MCF-7	breast:
4	chr5:43016477..43018565-chr5:43040554..43042623,2	K562	blood:
5	chr5:43009718..43010473-chr5:43017691..43018496,2	Hela-S3	cervix:
6	chr19:13049374..13049937-chr5:43017996..43018694,2	NB4	blood:
7	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
8	chr16:31191270..31191892-chr5:43018071..43018743,2	Hela-S3	cervix:
9	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
10	chr3:9438873..9439389-chr5:43018022..43018645,2	Hela-S3	cervix:
11	chr17:8076321..8077137-chr5:43017614..43018410,3	Hela-S3	cervix:
12	chr2:25264368..25265333-chr5:43017759..43018462,2	Hela-S3	cervix:
13	chr1:57110974..57111787-chr5:43018020..43018793,2	Hela-S3	cervix:
14	chr15:59664817..59665719-chr5:43017980..43018660,2	Hela-S3	cervix:
15	chr5:43017018..43021813-chr5:43064660..43069370,12	MCF-7	breast:
16	chr12:6643784..6644570-chr5:43017791..43018727,2	Hela-S3	cervix:
17	chr5:43015314..43020034-chr5:43032196..43035172,5	MCF-7	breast:
18	chr5:43017672..43018397-chr9:86594190..86595146,2	Hela-S3	cervix:
19	chr3:151986746..151987305-chr5:43017570..43018346,2	Hela-S3	cervix:
20	chr12:49760376..49760967-chr5:43017479..43018168,2	Hela-S3	cervix:
21	chr17:36858634..36859302-chr5:43018121..43018959,2	Hela-S3	cervix:
22	chr5:43017490..43020535-chr5:43119535..43122363,3	MCF-7	breast:
23	chr1:28974700..28975242-chr5:43017286..43018210,2	NB4	blood:
24	chr12:104359505..104360344-chr5:43018121..43018755,2	Hela-S3	cervix:
25	chr3:186501086..186501967-chr5:43017668..43018336,2	Hela-S3	cervix:
26	chr13:111365120..111365861-chr5:43018102..43019042,2	Hela-S3	cervix:
27	chr14:93673186..93674009-chr5:43017806..43018381,2	Hela-S3	cervix:
28	chr15:66084296..66084912-chr5:43017982..43018528,2	Hela-S3	cervix:
29	chr16:30669265..30670159-chr5:43017610..43018584,2	Hela-S3	cervix:
30	chr11:841938..842573-chr5:43017709..43018381,2	Hela-S3	cervix:
31	chr5:32173838..32174456-chr5:43017668..43018372,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000251131	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000272382	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000162409	Chromatin interaction
ENSG00000103769	Chromatin interaction
ENSG00000174485	Chromatin interaction
ENSG00000162407	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000012963	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000170270	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000113384	Chromatin interaction
ENSG00000152601	Chromatin interaction
ENSG00000084710	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000261005	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177700	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1084520	0.89[EUR][1000 genomes]
rs11550288	0.87[AMR][1000 genomes]
rs13156403	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13156729	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13158147	0.89[EUR][1000 genomes]
rs13167991	0.89[EUR][1000 genomes]
rs13170322	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13170959	0.84[EUR][1000 genomes]
rs13174226	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13175754	0.89[EUR][1000 genomes]
rs13176080	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13180496	0.87[EUR][1000 genomes]
rs2085100	0.84[EUR][1000 genomes]
rs34157680	0.87[EUR][1000 genomes]
rs34215864	0.83[AMR][1000 genomes]
rs34345245	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34735159	0.89[EUR][1000 genomes]
rs34922908	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34967469	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35030460	0.87[AMR][1000 genomes]
rs35197809	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35322710	0.80[EUR][1000 genomes]
rs35334781	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35484387	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35594379	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35756781	0.89[EUR][1000 genomes]
rs36048737	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs503965	0.82[EUR][1000 genomes]
rs505573	0.82[EUR][1000 genomes]
rs614386	0.89[EUR][1000 genomes]
rs632730	0.89[EUR][1000 genomes]
rs71627567	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
12	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
13	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 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	chr5:43011400-43018200	Weak transcription	K562	blood
2	chr5:43016400-43018600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:43016400-43020800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:43016800-43018400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43016800-43020800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr5:43017000-43018400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:43017200-43018600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr5:43017200-43018600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:43017200-43018600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
10	chr5:43017200-43018800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr5:43017200-43019200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:43017200-43019200	Active TSS	HSMM	muscle
13	chr5:43017200-43019400	Bivalent/Poised TSS	Small Intestine	intestine
14	chr5:43017200-43020200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr5:43017200-43020600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:43017200-43020800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:43017400-43018200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:43017400-43018200	Bivalent Enhancer	Fetal Heart	heart
19	chr5:43017400-43018400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr5:43017400-43018400	Active TSS	Brain Substantia Nigra	brain
21	chr5:43017400-43018600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:43017400-43018600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr5:43017400-43018600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
24	chr5:43017400-43018600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr5:43017400-43018800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:43017400-43018800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:43017400-43018800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr5:43017400-43019000	Active TSS	Esophagus	oesophagus
29	chr5:43017400-43019200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr5:43017400-43019200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:43017400-43019200	Active TSS	Aorta	Aorta
32	chr5:43017400-43019400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:43017400-43019600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr5:43017400-43019800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:43017400-43020000	Active TSS	Right Atrium	heart
36	chr5:43017400-43020200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr5:43017400-43020400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:43017400-43020400	Active TSS	Dnd41	blood
39	chr5:43017400-43020600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:43017400-43020600	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr5:43017400-43020600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:43017400-43020600	Bivalent/Poised TSS	Left Ventricle	heart
43	chr5:43017400-43020600	Bivalent/Poised TSS	Psoas Muscle	Psoas
44	chr5:43017400-43020600	Active TSS	Right Ventricle	heart
45	chr5:43017400-43020600	Active TSS	Thymus	Thymus
46	chr5:43017400-43020600	Active TSS	HSMMtube	muscle
47	chr5:43017400-43021400	Active TSS	A549	lung
48	chr5:43017600-43018200	Active TSS	Lung	lung
49	chr5:43017600-43018200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr5:43017600-43018400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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