Variant report

Variant	rs1521185
Chromosome Location	chr1:151764049-151764050
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	CHD2	chr1:151763771-151764163	Hela-S3	cervix:	n/a	chr1:151763978-151763987
2	ZBTB33	chr1:151763871-151764078	HepG2	liver:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
3	HDAC2	chr1:151762308-151764216	MCF-7	breast:	n/a	n/a
4	ZBTB33	chr1:151763816-151764121	GM12878	blood:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
5	SIN3AK20	chr1:151762260-151764320	MCF-7	breast:	n/a	n/a
6	RCOR1	chr1:151763913-151764081	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr1:151762583-151764112	K562	blood:	n/a	n/a
8	CTCF	chr1:151763980-151764130	SK-N-SH_RA	brain:	n/a	n/a
9	MYC	chr1:151763876-151764104	MCF-7	breast:	n/a	n/a
10	BRCA1	chr1:151763854-151764075	H1-hESC	embryonic stem cell:	n/a	chr1:151763978-151763987
11	ZBTB33	chr1:151763848-151764159	A549	lung:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
12	UBTF	chr1:151763858-151764058	K562	blood:	n/a	n/a
13	CCNT2	chr1:151763914-151764084	K562	blood:	n/a	n/a
14	POLR2A	chr1:151762481-151764180	H1-neurons	neurons:	n/a	n/a
15	BRCA1	chr1:151763854-151764130	Hela-S3	cervix:	n/a	chr1:151763978-151763987
16	ZBTB33	chr1:151763852-151764142	K562	blood:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
17	CHD2	chr1:151762742-151764174	HepG2	liver:	n/a	chr1:151763978-151763987
18	POLR2A	chr1:151762535-151764115	H1-neurons	neurons:	n/a	n/a
19	ZBTB33	chr1:151763871-151764114	HepG2	liver:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
20	ELF1	chr1:151762380-151764190	MCF-7	breast:	n/a	chr1:151763877-151763886
21	RCOR1	chr1:151762087-151764336	IMR90	lung:	n/a	n/a
22	CTCF	chr1:151763919-151764066	MCF-7	breast:	n/a	n/a
23	ZBTB33	chr1:151763847-151764066	HepG2	liver:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
24	SIN3AK20	chr1:151762238-151764160	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:151763846-151764156	ECC-1	luminal epithelium:	n/a	n/a
26	CUX1	chr1:151764014-151764095	K562	blood:	n/a	n/a
27	ELF1	chr1:151762525-151764085	MCF-7	breast:	n/a	chr1:151763877-151763886
28	MAX	chr1:151762096-151764240	MCF-7	breast:	n/a	chr1:151763829-151763839
29	CTCF	chr1:151763960-151764110	WERI-Rb-1	eye:	n/a	n/a
30	REST	chr1:151762364-151764219	H1-neurons	neurons:	n/a	chr1:151763910-151763917
31	EGR1	chr1:151762432-151764195	MCF-7	breast:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763828-151763838 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763847-151763857 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763816-151763831 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
32	ZBTB33	chr1:151763690-151764161	SK-N-SH	brain:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
33	CHD2	chr1:151763791-151764141	H1-hESC	embryonic stem cell:	n/a	chr1:151763978-151763987
34	RFX5	chr1:151760827-151765002	SK-N-SH	brain:	n/a	chr1:151761465-151761474
35	GABPA	chr1:151762315-151764142	MCF-7	breast:	n/a	chr1:151763005-151763014
36	SIN3A	chr1:151762371-151764107	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr1:151763849-151764151	GM12878	blood:	n/a	chr1:151763978-151763987
38	BRCA1	chr1:151763856-151764117	HepG2	liver:	n/a	chr1:151763978-151763987
39	HMGN3	chr1:151763895-151764095	K562	blood:	n/a	n/a
40	ZBTB7A	chr1:151763597-151764145	K562	blood:	n/a	n/a
41	POLR2A	chr1:151762551-151764173	MCF-7	breast:	n/a	n/a
42	MXI1	chr1:151761776-151764760	SK-N-SH	brain:	n/a	n/a
43	CHD2	chr1:151763803-151764155	GM12878	blood:	n/a	chr1:151763978-151763987
44	POLR2A	chr1:151763801-151764052	HepG2	liver:	n/a	n/a
45	MAZ	chr1:151763933-151764050	K562	blood:	n/a	n/a
46	ZBTB33	chr1:151763824-151764167	GM12878	blood:	n/a	chr1:151763979-151763989 chr1:151763973-151763988
47	MXI1	chr1:151762624-151764103	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:151763910-151764105	K562	blood:	n/a	n/a
49	RCOR1	chr1:151763876-151764113	HepG2	liver:	n/a	n/a
50	UBTF	chr1:151763504-151764075	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
2	chr1:151732101..151733764-chr1:151763147..151765011,2	MCF-7	breast:
3	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
4	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
5	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
6	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
7	chr1:151727449..151729119-chr1:151762483..151764442,2	K562	blood:
8	chr1:151740105..151741815-chr1:151762387..151764682,2	MCF-7	breast:
9	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
10	chr1:151764011..151766318-chr1:151811663..151813928,2	MCF-7	breast:
11	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
12	chr1:151764017..151766506-chr1:151773609..151776355,2	K562	blood:
13	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
14	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-1	chr1:151763911-151764124	NONHSAT006432

Variant related genes	Relation type
TDRKH	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000269621	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143436	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1054479	0.97[EUR][1000 genomes]
rs10788809	0.98[EUR][1000 genomes]
rs11204884	0.94[EUR][1000 genomes]
rs11204892	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11585294	0.99[EUR][1000 genomes]
rs11586946	0.99[EUR][1000 genomes]
rs11588258	0.82[EUR][1000 genomes]
rs11588634	0.82[EUR][1000 genomes]
rs11810571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1196456	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12238987	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3790514	0.97[EUR][1000 genomes]
rs3811414	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811415	0.99[EUR][1000 genomes]
rs3811416	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4504897	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4618976	0.99[EUR][1000 genomes]
rs4845356	1.00[EUR][1000 genomes]
rs4845570	1.00[EUR][1000 genomes]
rs4845575	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4845579	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6659705	0.99[EUR][1000 genomes]
rs6664467	0.82[EUR][1000 genomes]
rs6673002	0.97[EUR][1000 genomes]
rs6673917	0.97[EUR][1000 genomes]
rs6681093	1.00[EUR][1000 genomes]
rs6683364	0.97[EUR][1000 genomes]
rs6694952	0.98[EUR][1000 genomes]
rs7416415	0.99[EUR][1000 genomes]
rs7542898	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151761800-151764600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:151762000-151764200	Active TSS	Fetal Kidney	kidney
3	chr1:151762000-151764400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151762000-151764400	Active TSS	Brain Germinal Matrix	brain
5	chr1:151762000-151764400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:151762000-151764600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:151762000-151764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:151762200-151764200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:151762200-151764200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:151762200-151764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:151762200-151764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:151762200-151764400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:151762200-151764400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:151762200-151764400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:151762200-151764400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:151762200-151764400	Active TSS	Brain Angular Gyrus	brain
17	chr1:151762200-151764400	Active TSS	Brain Anterior Caudate	brain
18	chr1:151762200-151764400	Active TSS	A549	lung
19	chr1:151762200-151764400	Active TSS	HMEC	breast
20	chr1:151762200-151764600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:151762200-151764600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:151762200-151764600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:151762400-151764200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:151762400-151764200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:151762400-151764200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:151762400-151764200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:151762400-151764200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:151762400-151764200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:151762400-151764200	Active TSS	Colonic Mucosa	Colon
30	chr1:151762400-151764200	Active TSS	Esophagus	oesophagus
31	chr1:151762400-151764200	Active TSS	Fetal Heart	heart
32	chr1:151762400-151764200	Active TSS	Stomach Mucosa	stomach
33	chr1:151762400-151764400	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:151762400-151764400	Active TSS	Brain Hippocampus Middle	brain
35	chr1:151762400-151764400	Active TSS	HSMMtube	muscle
36	chr1:151762400-151764600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:151762400-151764600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:151762600-151764200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr1:151762600-151764200	Active TSS	Aorta	Aorta
40	chr1:151762600-151764200	Active TSS	Gastric	stomach
41	chr1:151762600-151764200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:151762600-151764200	Active TSS	Small Intestine	intestine
43	chr1:151762600-151764400	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:151762600-151764400	Active TSS	Stomach Smooth Muscle	stomach
45	chr1:151762600-151764400	Active TSS	K562	blood
46	chr1:151762600-151764600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:151762800-151764200	Bivalent/Poised TSS	Fetal Lung	lung
48	chr1:151762800-151764400	Active TSS	Fetal Intestine Small	intestine
49	chr1:151762800-151764400	Active TSS	NHEK	skin
50	chr1:151762800-151764600	Active TSS	HepG2	liver

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