Variant report

Variant	rs41266595
Chromosome Location	chr1:150944363-150944364
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	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	USF2	chr1:150944183-150944696	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:150944208-150945014	K562	blood:	n/a	n/a
4	TCF12	chr1:150944173-150944917	ECC-1	luminal epithelium:	n/a	chr1:150944592-150944599 chr1:150944850-150944860
5	TCF7L2	chr1:150943837-150944514	MCF-7	breast:	n/a	chr1:150944239-150944253 chr1:150944239-150944253 chr1:150944241-150944250 chr1:150944242-150944251 chr1:150944238-150944254 chr1:150944238-150944254
6	NR2F2	chr1:150943257-150945619	MCF-7	breast:	n/a	n/a
7	USF1	chr1:150944085-150944510	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:150943397-150945192	HepG2	liver:	n/a	n/a
9	RAD21	chr1:150944353-150944826	HepG2	liver:	n/a	n/a
10	TEAD4	chr1:150943522-150944892	HepG2	liver:	n/a	chr1:150944024-150944033
11	CTCF	chr1:150944359-150944880	HepG2	liver:	n/a	chr1:150944496-150944505
12	MBD4	chr1:150943634-150944581	HepG2	liver:	n/a	n/a
13	BHLHE40	chr1:150943467-150945102	HepG2	liver:	n/a	chr1:150944854-150944870
14	BCL3	chr1:150943668-150944650	A549	lung:	n/a	chr1:150943820-150943828 chr1:150943683-150943692
15	POLR2A	chr1:150942736-150945363	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:150944360-150944510	HepG2	liver:	n/a	chr1:150944496-150944505
17	TAF1	chr1:150944300-150944692	H1-hESC	embryonic stem cell:	n/a	n/a
18	SMC3	chr1:150943546-150944789	HepG2	liver:	n/a	chr1:150944740-150944748
19	MAX	chr1:150943391-150945406	MCF-7	breast:	n/a	chr1:150944384-150944393
20	NFIC	chr1:150943640-150944970	HepG2	liver:	n/a	n/a
21	RAD21	chr1:150943602-150944896	HepG2	liver:	n/a	chr1:150944854-150944867
22	EP300	chr1:150943492-150944779	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:150944201-150945055	K562	blood:	n/a	n/a
24	POLR2A	chr1:150944339-150944649	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF1	chr1:150944186-150944443	HepG2	liver:	n/a	n/a
26	MYBL2	chr1:150943578-150944869	HepG2	liver:	n/a	n/a
27	MXI1	chr1:150943226-150945340	IMR90	lung:	n/a	n/a
28	HEY1	chr1:150943571-150945409	HepG2	liver:	n/a	n/a
29	MAX	chr1:150944300-150944793	ECC-1	luminal epithelium:	n/a	chr1:150944384-150944393
30	POLR2A	chr1:150944167-150944743	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:150943469-150944977	HepG2	liver:	n/a	n/a
32	USF1	chr1:150944119-150944451	SK-N-SH_RA	brain:	n/a	n/a
33	SP1	chr1:150943572-150944975	HepG2	liver:	n/a	chr1:150944544-150944553 chr1:150943984-150943998 chr1:150944543-150944555 chr1:150944543-150944555 chr1:150943829-150943843 chr1:150943995-150944009 chr1:150944040-150944054 chr1:150944544-150944554
34	TAF1	chr1:150944236-150944532	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr1:150943324-150944913	MCF-7	breast:	n/a	n/a
36	TCF12	chr1:150943507-150945193	A549	lung:	n/a	chr1:150944592-150944599 chr1:150943560-150943567 chr1:150944850-150944860
37	POLR2A	chr1:150944300-150944759	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:150944207-150945045	K562	blood:	n/a	n/a
39	USF1	chr1:150944163-150944392	A549	lung:	n/a	n/a
40	NR2F2	chr1:150943383-150945450	MCF-7	breast:	n/a	n/a
41	HEY1	chr1:150943580-150945024	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:150943400-150944684	MCF-7	breast:	n/a	chr1:150943851-150943868
43	MYC	chr1:150944190-150944391	K562	blood:	n/a	n/a
44	FOXA1	chr1:150943721-150944691	HepG2	liver:	n/a	n/a
45	GATA3	chr1:150943253-150945525	MCF-7	breast:	n/a	n/a
46	EP300	chr1:150943518-150944737	MCF-7	breast:	n/a	n/a
47	ELF1	chr1:150944236-150944712	HepG2	liver:	n/a	chr1:150944608-150944619 chr1:150944606-150944619
48	FOXA1	chr1:150943699-150944424	HepG2	liver:	n/a	n/a
49	CEBPB	chr1:150943220-150945049	MCF-7	breast:	n/a	chr1:150943851-150943868
50	POLR2A	chr1:150943265-150946270	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150847731..150849909-chr1:150942826..150945486,2	K562	blood:
2	chr1:150943621..150944393-chr1:150953855..150954520,2	MCF-7	breast:
3	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
4	chr1:150944160..150945692-chr1:151732521..151735210,2	K562	blood:
5	chr1:150942864..150945406-chr17:56708894..56710724,2	MCF-7	breast:
6	chr1:150942445..150944747-chr16:88921048..88924029,2	MCF-7	breast:
7	chr1:150942596..150945124-chr1:151020280..151022010,2	MCF-7	breast:
8	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
9	chr1:150943576..150944631-chr1:150954006..150954679,3	MCF-7	breast:
10	chr1:150943422..150945892-chr1:151029810..151031687,2	MCF-7	breast:
11	chr1:150942867..150944822-chr1:150945093..150947347,2	K562	blood:
12	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
13	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
14	chr1:150942330..150945189-chr13:31190945..31193685,2	MCF-7	breast:
15	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000231073	TF binding region
ENSG00000167515	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000141012	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000189403	Chromatin interaction
ENSG00000143436	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10305657	1.00[AMR][1000 genomes]
rs10305693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305698	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305702	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305725	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305728	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305740	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305741	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10305751	1.00[ASN][1000 genomes]
rs34053871	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772167	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55954760	1.00[AMR][1000 genomes]
rs74127015	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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 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	chr1:150940200-150944600	Weak transcription	Fetal Brain Male	brain
2	chr1:150940400-150945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:150940800-150945200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:150941600-150944400	Enhancers	Brain Hippocampus Middle	brain
5	chr1:150941800-150944800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:150941800-150945000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:150942000-150944400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:150942200-150944600	Genic enhancers	Spleen	Spleen
9	chr1:150942600-150945400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:150942600-150945600	Enhancers	Placenta	Placenta
11	chr1:150942800-150944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:150942800-150945000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr1:150942800-150945000	Enhancers	Right Atrium	heart
14	chr1:150942800-150945200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:150942800-150945200	Genic enhancers	Fetal Stomach	stomach
16	chr1:150942800-150945600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:150942800-150945800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:150942800-150945800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:150942800-150945800	Enhancers	Ovary	ovary
20	chr1:150942800-150946000	Flanking Active TSS	Liver	Liver
21	chr1:150942800-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:150943000-150944400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:150943000-150944400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:150943000-150944400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:150943000-150944400	Enhancers	Gastric	stomach
26	chr1:150943000-150944600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:150943000-150944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:150943000-150944800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:150943000-150944800	Enhancers	Fetal Heart	heart
30	chr1:150943000-150945000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:150943000-150945000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:150943000-150945000	Enhancers	Left Ventricle	heart
33	chr1:150943000-150945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:150943000-150945200	Enhancers	Right Ventricle	heart
35	chr1:150943000-150945400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:150943000-150945600	Enhancers	Psoas Muscle	Psoas
37	chr1:150943000-150945800	Enhancers	Esophagus	oesophagus
38	chr1:150943000-150946000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:150943000-150946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:150943200-150944400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:150943200-150944400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:150943200-150944400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:150943200-150944400	Genic enhancers	Brain Germinal Matrix	brain
44	chr1:150943200-150944400	Enhancers	Fetal Brain Female	brain
45	chr1:150943200-150944400	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:150943200-150944600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:150943200-150944800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:150943200-150944800	Enhancers	HSMMtube	muscle
49	chr1:150943200-150945000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150943200-150945200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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