Variant report

Variant	rs267728
Chromosome Location	chr1:150895359-150895360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr1:150894934-150895372	GM12878	blood:	n/a	n/a
2	MAZ	chr1:150894976-150895461	GM12878	blood:	n/a	n/a
3	CTCF	chr1:150894614-150895418	MCF-7	breast:	n/a	n/a
4	SP1	chr1:150894961-150895462	GM12878	blood:	n/a	n/a
5	RELA	chr1:150895020-150895418	GM18505	blood:	n/a	n/a
6	YY1	chr1:150895039-150895361	GM12892	blood:	n/a	n/a
7	RUNX3	chr1:150894902-150895450	GM12878	blood:	n/a	n/a
8	RAD21	chr1:150894924-150895414	GM12878	blood:	n/a	n/a
9	MAFK	chr1:150895020-150895439	IMR90	lung:	n/a	n/a
10	FOSL2	chr1:150894869-150895407	SK-N-SH	brain:	n/a	n/a
11	BCL11A	chr1:150895030-150895385	GM12878	blood:	n/a	n/a
12	SMC3	chr1:150894554-150895473	SK-N-SH	brain:	n/a	n/a
13	BCLAF1	chr1:150894903-150895435	GM12878	blood:	n/a	n/a
14	CTCF	chr1:150894800-150895481	HCT-116	colon:	n/a	n/a
15	STAT5A	chr1:150894963-150895367	GM12878	blood:	n/a	n/a
16	MEF2A	chr1:150894945-150895502	GM12878	blood:	n/a	n/a
17	ATF2	chr1:150894987-150895482	GM12878	blood:	n/a	n/a
18	MXI1	chr1:150895006-150895391	GM12878	blood:	n/a	n/a
19	BCL3	chr1:150894983-150895454	GM12878	blood:	n/a	n/a
20	RAD21	chr1:150894801-150895546	MCF-7	breast:	n/a	n/a
21	MEF2A	chr1:150894882-150895465	GM12878	blood:	n/a	n/a
22	IRF4	chr1:150894809-150895389	GM12878	blood:	n/a	n/a
23	ZNF263	chr1:150894718-150895391	HEK293-T-REx	kidney:	n/a	chr1:150895079-150895100
24	IRF4	chr1:150894893-150895421	GM12878	blood:	n/a	n/a
25	RAD21	chr1:150894696-150895531	HCT-116	colon:	n/a	n/a
26	FOS	chr1:150894956-150895480	MCF10A-Er-Src	breast:	n/a	chr1:150895151-150895162
27	CTCF	chr1:150894857-150895394	K562	blood:	n/a	n/a
28	FOS	chr1:150894969-150895402	MCF10A-Er-Src	breast:	n/a	chr1:150895151-150895162
29	STAT3	chr1:150895064-150895421	MCF10A-Er-Src	breast:	n/a	n/a
30	RUNX3	chr1:150894806-150895548	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:150894984-150895385	SK-N-SH	brain:	n/a	n/a
32	FOS	chr1:150894969-150895505	MCF10A-Er-Src	breast:	n/a	chr1:150895151-150895162
33	CTCF	chr1:150894556-150895490	A549	lung:	n/a	n/a
34	RAD21	chr1:150894536-150895504	SK-N-SH	brain:	n/a	n/a
35	STAT3	chr1:150894997-150895412	MCF10A-Er-Src	breast:	n/a	n/a
36	RELA	chr1:150894944-150895456	GM19099	blood:	n/a	n/a
37	MTA3	chr1:150894727-150895410	GM12878	blood:	n/a	n/a
38	ATF2	chr1:150894905-150895445	GM12878	blood:	n/a	n/a
39	PML	chr1:150895033-150895400	GM12878	blood:	n/a	n/a
40	FOXM1	chr1:150894898-150895503	GM12878	blood:	n/a	n/a
41	FOS	chr1:150894973-150895434	MCF10A-Er-Src	breast:	n/a	chr1:150895151-150895162
42	PML	chr1:150894853-150895569	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:150894856-150895445	GM12878	blood:	n/a	n/a
44	RAD21	chr1:150894785-150895382	A549	lung:	n/a	n/a
45	NFIC	chr1:150895014-150895571	GM12878	blood:	n/a	n/a
46	RAD21	chr1:150894772-150895375	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:150894594-150895561	SK-N-SH	brain:	n/a	n/a
48	FOSL2	chr1:150894839-150895401	A549	lung:	n/a	n/a
49	MAZ	chr1:150894793-150895556	IMR90	lung:	n/a	n/a
50	ZNF384	chr1:150895067-150895511	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150436622..150437343-chr1:150894926..150895550,2	MCF-7	breast:
2	chr1:150801858..150802888-chr1:150894612..150895566,5	MCF-7	breast:
3	chr1:150894801..150896695-chr1:150898996..150900793,2	MCF-7	breast:
4	chr1:150878790..150879531-chr1:150895034..150895606,2	MCF-7	breast:
5	chr1:150601346..150603290-chr1:150894418..150896629,2	MCF-7	breast:
6	chr1:150842114..150842998-chr1:150894692..150895584,2	MCF-7	breast:
7	chr1:150890944..150896725-chr1:150896868..150900962,8	MCF-7	breast:
8	chr1:150884570..150885222-chr1:150894644..150895459,2	K562	blood:

No data

Variant related genes	Relation type
SETDB1	TF binding region
ENSG00000143437	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10305668	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10788793	1.00[AMR][1000 genomes]
rs10788796	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204728	1.00[CEU][hapmap]
rs11204732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204776	1.00[CEU][hapmap]
rs12066452	1.00[CEU][hapmap]
rs13376166	1.00[ASN][1000 genomes]
rs267727	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28498299	1.00[ASN][1000 genomes]
rs4970975	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6587522	1.00[CEU][hapmap]
rs6587534	1.00[CEU][hapmap]
rs6587538	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs7515228	1.00[CEU][hapmap]
rs7518440	1.00[CEU][hapmap]
rs7518546	1.00[CEU][hapmap]
rs7526690	1.00[AMR][1000 genomes]
rs7533914	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7536645	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs796407	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv947130	chr1:150878115-150899504	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150879200-150898200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:150894600-150895400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:150894600-150895400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:150894600-150895600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:150894600-150895600	Enhancers	NHDF-Ad	bronchial
6	chr1:150894600-150895600	Enhancers	Osteobl	bone
7	chr1:150894600-150895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:150894600-150895800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:150894600-150895800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:150894800-150895400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:150894800-150895400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:150894800-150895400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:150894800-150895400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:150894800-150895400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:150894800-150895400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:150894800-150895400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:150894800-150895400	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:150894800-150895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:150894800-150895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:150894800-150895400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:150894800-150895400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:150894800-150895400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:150894800-150895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:150894800-150895400	Enhancers	Liver	Liver
25	chr1:150894800-150895400	Enhancers	Fetal Intestine Small	intestine
26	chr1:150894800-150895400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:150894800-150895400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:150894800-150895400	Enhancers	Stomach Mucosa	stomach
29	chr1:150894800-150895400	Enhancers	A549	lung
30	chr1:150894800-150895400	Enhancers	Hela-S3	cervix
31	chr1:150894800-150895400	Enhancers	HepG2	liver
32	chr1:150894800-150895400	Enhancers	HSMMtube	muscle
33	chr1:150894800-150895600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:150894800-150895600	Enhancers	HMEC	breast
35	chr1:150894800-150895600	Enhancers	HSMM	muscle
36	chr1:150894800-150895600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:150894800-150895600	Enhancers	NHEK	skin
38	chr1:150894800-150895800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:150894800-150895800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:150894800-150895800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:150894800-150895800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:150895000-150895400	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:150895000-150895400	Enhancers	NH-A	brain
44	chr1:150895000-150895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:150895000-150895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:150895000-150898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:150895000-150898200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:150895000-150898800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:150895200-150895400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:150895200-150895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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