Variant report

Variant	rs72967387
Chromosome Location	chr1:94313697-94313698
allele	A/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	chr1:94311717-94313891	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
3	MAX	chr1:94313396-94313889	K562	blood:	n/a	chr1:94313560-94313569
4	RCOR1	chr1:94312819-94313993	Hela-S3	cervix:	n/a	n/a
5	MAX	chr1:94311665-94313906	HepG2	liver:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
6	CBX3	chr1:94313430-94313909	K562	blood:	n/a	n/a
7	MEF2A	chr1:94312782-94313810	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:94311700-94313828	HEK293	kidney:	n/a	n/a
9	E2F4	chr1:94313580-94313781	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr1:94311741-94313908	K562	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
11	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
12	TBP	chr1:94312714-94313864	HepG2	liver:	n/a	n/a
13	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
14	MXI1	chr1:94313569-94313934	K562	blood:	n/a	n/a
15	EP300	chr1:94312876-94313934	H1-hESC	embryonic stem cell:	n/a	chr1:94313265-94313279
16	SIN3AK20	chr1:94313474-94313770	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr1:94313458-94313832	SK-N-SH	brain:	n/a	n/a
18	HEY1	chr1:94313473-94313799	K562	blood:	n/a	n/a
19	ZBTB7A	chr1:94311557-94314008	ECC-1	luminal epithelium:	n/a	n/a
20	ZBTB7A	chr1:94312556-94313749	ECC-1	luminal epithelium:	n/a	n/a
21	TCF12	chr1:94312588-94314023	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr1:94313480-94313784	HepG2	liver:	n/a	n/a
23	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
24	YY1	chr1:94313463-94313882	SK-N-SH_RA	brain:	n/a	chr1:94313699-94313711 chr1:94313646-94313658 chr1:94313792-94313803
25	MAFK	chr1:94312898-94314419	Hela-S3	cervix:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
26	EP300	chr1:94312472-94314118	ECC-1	luminal epithelium:	n/a	chr1:94312761-94312770 chr1:94312534-94312550 chr1:94313265-94313279 chr1:94314012-94314022
27	HMGN3	chr1:94311715-94313735	K562	blood:	n/a	n/a
28	SIN3AK20	chr1:94312764-94313980	MCF-7	breast:	n/a	n/a
29	MYBL2	chr1:94312846-94313979	HepG2	liver:	n/a	chr1:94313284-94313294 chr1:94313286-94313300
30	POLR2A	chr1:94311707-94313841	MCF-7	breast:	n/a	n/a
31	MAX	chr1:94313394-94313872	MCF-7	breast:	n/a	chr1:94313560-94313569
32	POLR2A	chr1:94313511-94313780	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
34	POLR2A	chr1:94313413-94313777	Gliobla	brain:	n/a	n/a
35	YY1	chr1:94312645-94313833	GM12891	blood:	n/a	chr1:94313699-94313711 chr1:94313646-94313658 chr1:94313792-94313803
36	JUND	chr1:94312944-94313876	H1-hESC	embryonic stem cell:	n/a	chr1:94313788-94313797
37	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
38	TCF7L2	chr1:94311734-94313844	HCT-116	colon:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
39	TBP	chr1:94312734-94314034	Hela-S3	cervix:	n/a	n/a
40	HEY1	chr1:94312503-94313823	HepG2	liver:	n/a	chr1:94313075-94313090
41	YY1	chr1:94312628-94313915	GM12878	blood:	n/a	chr1:94313699-94313711 chr1:94313646-94313658 chr1:94313792-94313803
42	MAFF	chr1:94313622-94314302	HepG2	liver:	n/a	chr1:94314114-94314132
43	GTF2F1	chr1:94312692-94313917	Hela-S3	cervix:	n/a	n/a
44	REST	chr1:94313472-94313738	K562	blood:	n/a	chr1:94313624-94313638
45	POLR2A	chr1:94313303-94313761	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:94313469-94313743	A549	lung:	n/a	n/a
47	POLR2A	chr1:94311363-94313868	Hela-S3	cervix:	n/a	n/a
48	EP300	chr1:94312869-94313883	A549	lung:	n/a	chr1:94313265-94313279
49	POLR2A	chr1:94311042-94313877	ECC-1	luminal epithelium:	n/a	n/a
50	GTF2F1	chr1:94313611-94313857	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94031565..94034150-chr1:94311941..94313768,2	MCF-7	breast:
2	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
3	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
4	chr1:94313007..94313936-chr6:26157347..26158507,3	Hela-S3	cervix:
5	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
6	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
7	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
8	chr1:94313241..94313938-chr16:31580386..31581386,2	HCT-116	colon:
9	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
10	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
11	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
12	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
13	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
14	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:
15	chr1:94224636..94227402-chr1:94312918..94314465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312730-94314495	ENSG00000260464.1
2	lnc-FNBP1L-2	chr1:94313323-94314010	NONHSAT004549
3	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000023909	Chromatin interaction
ENSG00000261614	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10874804	1.00[ASN][1000 genomes]
rs10874805	1.00[ASN][1000 genomes]
rs11165011	0.94[EUR][1000 genomes]
rs11165027	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11165028	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11165029	1.00[ASN][1000 genomes]
rs11165032	1.00[ASN][1000 genomes]
rs11805379	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808380	1.00[ASN][1000 genomes]
rs12059028	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062272	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062925	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069476	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076074	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078134	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080386	1.00[ASN][1000 genomes]
rs12081399	1.00[ASN][1000 genomes]
rs12090038	1.00[ASN][1000 genomes]
rs12090230	1.00[ASN][1000 genomes]
rs12094966	1.00[ASN][1000 genomes]
rs17110374	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110608	1.00[ASN][1000 genomes]
rs2234729	1.00[ASN][1000 genomes]
rs4075342	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292667	1.00[ASN][1000 genomes]
rs41292669	1.00[ASN][1000 genomes]
rs41292671	1.00[ASN][1000 genomes]
rs41292673	1.00[ASN][1000 genomes]
rs4542218	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136451	1.00[ASN][1000 genomes]
rs58790885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59444123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545065	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057678	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61750895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541397	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680755	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686765	1.00[ASN][1000 genomes]
rs6692306	1.00[ASN][1000 genomes]
rs6701957	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702045	1.00[ASN][1000 genomes]
rs6702064	1.00[ASN][1000 genomes]
rs6704348	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967332	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969374	1.00[ASN][1000 genomes]
rs7514067	1.00[ASN][1000 genomes]
rs7515991	1.00[ASN][1000 genomes]
rs7525516	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552401	1.00[ASN][1000 genomes]
rs7555872	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv3438948	chr1:94311389-94313937	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 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	chr1:94311200-94313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94311200-94313800	Active TSS	Lung	lung
3	chr1:94311200-94314000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:94311200-94314000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:94311200-94314000	Active TSS	Ovary	ovary
6	chr1:94311400-94313800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:94311400-94313800	Active TSS	NH-A	brain
8	chr1:94311400-94314000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:94311400-94314000	Active TSS	Aorta	Aorta
10	chr1:94311400-94314000	Active TSS	Colonic Mucosa	Colon
11	chr1:94311400-94314000	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:94311400-94314000	Active TSS	Psoas Muscle	Psoas
13	chr1:94311400-94314000	Active TSS	Right Ventricle	heart
14	chr1:94311400-94314000	Active TSS	NHDF-Ad	bronchial
15	chr1:94311600-94313800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:94311600-94313800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:94311600-94313800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:94311600-94313800	Active TSS	Brain Hippocampus Middle	brain
19	chr1:94311600-94313800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:94311600-94313800	Active TSS	Fetal Kidney	kidney
21	chr1:94311600-94313800	Active TSS	Gastric	stomach
22	chr1:94311600-94313800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:94311600-94313800	Active TSS	Small Intestine	intestine
24	chr1:94311600-94313800	Active TSS	A549	lung
25	chr1:94311600-94313800	Active TSS	Hela-S3	cervix
26	chr1:94311600-94314000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:94311600-94314000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:94311600-94314000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:94311600-94314000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:94311600-94314000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:94311600-94314000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:94311600-94314000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:94311600-94314000	Active TSS	Brain Anterior Caudate	brain
34	chr1:94311600-94314000	Active TSS	Brain Germinal Matrix	brain
35	chr1:94311600-94314000	Active TSS	Fetal Heart	heart
36	chr1:94311600-94314000	Active TSS	Left Ventricle	heart
37	chr1:94311600-94314000	Active TSS	Pancreas	Pancrea
38	chr1:94311600-94314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94311600-94314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:94311600-94314200	Active TSS	Brain Angular Gyrus	brain
41	chr1:94311600-94314200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:94311600-94314200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:94311600-94314200	Active TSS	K562	blood
44	chr1:94311600-94314400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:94311800-94313800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:94311800-94313800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:94311800-94313800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:94311800-94313800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:94311800-94313800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:94311800-94313800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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