Variant report

Variant	rs72887057
Chromosome Location	chr1:45477118-45477119
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:45476862-45477174	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:45476709-45477159	ProgFib	skin:	n/a	n/a
3	MAX	chr1:45476650-45477303	A549	lung:	n/a	n/a
4	KAP1	chr1:45476798-45478446	HEK293	kidney:	n/a	chr1:45477407-45477416
5	POLR2A	chr1:45476700-45477143	GM19193	blood:	n/a	n/a
6	USF1	chr1:45476798-45477218	A549	lung:	n/a	chr1:45476977-45476993
7	POLR2A	chr1:45476723-45477168	GM12892	blood:	n/a	n/a
8	TAF1	chr1:45476777-45477121	HepG2	liver:	n/a	n/a
9	YY1	chr1:45476071-45477182	HepG2	liver:	n/a	chr1:45476417-45476428
10	MYC	chr1:45476508-45477273	K562	blood:	n/a	n/a
11	SIN3AK20	chr1:45476777-45477183	A549	lung:	n/a	n/a
12	SIN3AK20	chr1:45476733-45477173	K562	blood:	n/a	n/a
13	SMC3	chr1:45476983-45477195	HepG2	liver:	n/a	n/a
14	CBX3	chr1:45476780-45479180	K562	blood:	n/a	n/a
15	POLR2A	chr1:45476724-45477130	GM18951	blood:	n/a	n/a
16	FOXP2	chr1:45476841-45477126	SK-N-MC	brain:	n/a	n/a
17	MYC	chr1:45476933-45477175	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFK	chr1:45476883-45477230	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr1:45476768-45477156	PFSK-1	brain:	n/a	n/a
20	MAX	chr1:45476655-45477221	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:45476631-45477353	GM12878	blood:	n/a	n/a
22	TCF12	chr1:45476761-45477166	GM12878	blood:	n/a	chr1:45476977-45476984
23	REST	chr1:45476831-45477136	PFSK-1	brain:	n/a	chr1:45476982-45477002 chr1:45476988-45476997
24	SRF	chr1:45476926-45477173	HepG2	liver:	n/a	n/a
25	MAFK	chr1:45476621-45478788	GM12878	blood:	n/a	chr1:45477404-45477414
26	TAF1	chr1:45476722-45477252	H1-neurons	neurons:	n/a	n/a
27	RCOR1	chr1:45476920-45477176	Hela-S3	cervix:	n/a	n/a
28	CUX1	chr1:45476970-45478744	K562	blood:	n/a	n/a
29	CTBP2	chr1:45476090-45477121	H1-hESC	embryonic stem cell:	n/a	n/a
30	WRNIP1	chr1:45476928-45477266	GM12878	blood:	n/a	n/a
31	MAX	chr1:45476484-45477270	ECC-1	luminal epithelium:	n/a	n/a
32	REST	chr1:45476855-45477124	PANC-1	pancreas:	n/a	chr1:45476982-45477002 chr1:45476988-45476997
33	ETS1	chr1:45476484-45477198	K562	blood:	n/a	n/a
34	HA-E2F1	chr1:45476136-45477334	MCF-7	breast:	n/a	chr1:45476451-45476462
35	ZNF143	chr1:45476848-45477229	GM12878	blood:	n/a	n/a
36	NFIC	chr1:45476900-45477237	HepG2	liver:	n/a	n/a
37	EGR1	chr1:45476855-45477387	K562	blood:	n/a	n/a
38	SP1	chr1:45476694-45477297	A549	lung:	n/a	n/a
39	HEY1	chr1:45476753-45477230	HepG2	liver:	n/a	n/a
40	TAF1	chr1:45476847-45477164	SK-N-SH	brain:	n/a	n/a
41	MAX	chr1:45476214-45477195	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr1:45476445-45477210	K562	blood:	n/a	n/a
43	MAX	chr1:45476538-45477234	NB4	blood:	n/a	n/a
44	SIN3AK20	chr1:45475934-45478388	MCF-7	breast:	n/a	n/a
45	HCFC1	chr1:45476110-45478872	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:45476545-45477136	A549	lung:	n/a	n/a
47	POLR2A	chr1:45476769-45477186	HCT-116	colon:	n/a	n/a
48	CCNT2	chr1:45476219-45477167	K562	blood:	n/a	n/a
49	POLR2A	chr1:45476694-45477148	ECC-1	luminal epithelium:	n/a	n/a
50	USF2	chr1:45476855-45477208	GM12878	blood:	n/a	chr1:45476977-45476993

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
2	chr1:45477030..45479805-chr1:46047527..46050763,5	K562	blood:
3	chr1:45193444..45198675-chr1:45475617..45480324,16	K562	blood:
4	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
5	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
6	chr1:45239135..45244789-chr1:45475459..45482236,15	K562	blood:
7	chr1:45476252..45479466-chr1:46015891..46017851,3	K562	blood:
8	chr1:45471285..45474230-chr1:45476025..45477954,2	MCF-7	breast:
9	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
10	chr1:45451300..45453679-chr1:45476530..45479236,3	MCF-7	breast:
11	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
12	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
13	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
14	chr1:45476992..45480023-chr1:45798913..45801605,5	K562	blood:
15	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
16	chr1:45284268..45287037-chr1:45476110..45479807,4	MCF-7	breast:
17	chr1:45194719..45198675-chr1:45474706..45481379,10	K562	blood:
18	chr1:45186675..45188755-chr1:45476881..45478812,3	MCF-7	breast:
19	chr1:45184334..45189303-chr1:45475138..45480545,18	K562	blood:
20	chr1:45455788..45461421-chr1:45474837..45478788,5	MCF-7	breast:
21	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
22	chr1:45239617..45241510-chr1:45476171..45478089,2	MCF-7	breast:
23	chr1:45240714..45243157-chr1:45476342..45480108,4	MCF-7	breast:
24	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
25	chr1:45194277..45197109-chr1:45476180..45479040,2	MCF-7	breast:
26	chr1:45476210..45477994-chr1:45804757..45807098,3	MCF-7	breast:
27	chr1:45476992..45479513-chr1:45797519..45802277,7	K562	blood:
28	chr1:45476953..45479637-chr1:45985604..45989189,5	K562	blood:
29	chr1:45239592..45244618-chr1:45476667..45480609,10	K562	blood:
30	chr1:45273315..45275597-chr1:45475668..45479411,4	K562	blood:
31	chr1:45475963..45478525-chr1:45804448..45806898,2	MCF-7	breast:
32	chr1:45476699..45479087-chr1:45821651..45824622,2	MCF-7	breast:
33	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
34	chr1:45184334..45189289-chr1:45475449..45480431,12	K562	blood:
35	chr1:45476976..45478536-chr1:45986194..45987782,2	K562	blood:
36	chr1:45476853..45482658-chr1:45802506..45807966,11	K562	blood:
37	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
38	chr1:45470053..45471669-chr1:45475976..45477628,2	MCF-7	breast:

No data

Variant related genes	Relation type
HECTD3	TF binding region
UROD	TF binding region
ENSG00000199377	Chromatin interaction
ENSG00000268949	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000238945	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000226499	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000126107	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11211065	0.87[AFR][1000 genomes]
rs12059608	0.81[AFR][1000 genomes]
rs12061569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063958	0.87[AFR][1000 genomes]
rs12068434	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073834	0.86[AFR][1000 genomes]
rs12083931	0.98[AFR][1000 genomes]
rs12084469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087439	0.88[AFR][1000 genomes]
rs12092185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28848532	0.83[AFR][1000 genomes]
rs60060850	0.99[AFR][1000 genomes]
rs61027524	0.87[AFR][1000 genomes]
rs61498433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741088	1.00[AFR][1000 genomes]
rs6429555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682367	0.81[AFR][1000 genomes]
rs72885293	0.83[AFR][1000 genomes]
rs72887005	0.86[AFR][1000 genomes]
rs72887019	0.88[AFR][1000 genomes]
rs72887047	1.00[AFR][1000 genomes]
rs72887050	0.99[AFR][1000 genomes]
rs72887059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887092	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7512020	0.97[AFR][1000 genomes]

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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45475400-45477600	Flanking Active TSS	Colonic Mucosa	Colon
2	chr1:45475600-45477200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45475600-45477200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:45475600-45477200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:45475600-45480400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:45475800-45477200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:45475800-45477200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:45475800-45478600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:45475800-45478800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:45475800-45479200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:45476000-45477200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:45476000-45477200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:45476000-45477200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:45476000-45477200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:45476000-45477200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:45476000-45477200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:45476000-45477200	Active TSS	Fetal Intestine Small	intestine
18	chr1:45476000-45477200	Active TSS	Right Atrium	heart
19	chr1:45476000-45477200	Active TSS	A549	lung
20	chr1:45476000-45477200	Active TSS	HSMM	muscle
21	chr1:45476000-45478600	Active TSS	Aorta	Aorta
22	chr1:45476000-45479000	Active TSS	Ovary	ovary
23	chr1:45476200-45477200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:45476200-45477200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:45476200-45477200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:45476200-45477200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:45476200-45477200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:45476200-45477200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:45476200-45477200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:45476200-45477200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:45476200-45477200	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:45476200-45477200	Active TSS	Esophagus	oesophagus
33	chr1:45476200-45477200	Active TSS	Fetal Brain Male	brain
34	chr1:45476200-45477200	Active TSS	Left Ventricle	heart
35	chr1:45476200-45477200	Active TSS	Pancreas	Pancrea
36	chr1:45476200-45477200	Active TSS	Psoas Muscle	Psoas
37	chr1:45476200-45477200	Active TSS	Right Ventricle	heart
38	chr1:45476200-45477200	Active TSS	Thymus	Thymus
39	chr1:45476200-45477200	Active TSS	NHLF	lung
40	chr1:45476400-45477200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:45476400-45477200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:45476400-45477600	Bivalent/Poised TSS	HepG2	liver
43	chr1:45476400-45478200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:45476400-45478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:45476400-45478600	Active TSS	Lung	lung
46	chr1:45476400-45478800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:45476600-45477200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:45476600-45477200	Enhancers	Fetal Heart	heart
49	chr1:45476600-45477200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:45476600-45477200	Active TSS	Stomach Smooth Muscle	stomach

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