Variant report

Variant	rs560194838
Chromosome Location	chr1:151762734-151762735
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	UBTF	chr1:151762667-151763446	K562	blood:	n/a	n/a
2	HDAC2	chr1:151762485-151763768	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:151762656-151763140	A549	lung:	n/a	n/a
4	JUND	chr1:151762648-151763398	K562	blood:	n/a	chr1:151763172-151763181
5	MAZ	chr1:151762656-151763579	GM12878	blood:	n/a	n/a
6	CREB1	chr1:151762604-151763745	HepG2	liver:	n/a	n/a
7	NR2F2	chr1:151762547-151763087	K562	blood:	n/a	n/a
8	SP1	chr1:151762675-151763503	H1-hESC	embryonic stem cell:	n/a	chr1:151763004-151763013 chr1:151763169-151763190 chr1:151763004-151763013 chr1:151763003-151763015 chr1:151763005-151763014
9	HDAC2	chr1:151762308-151764216	MCF-7	breast:	n/a	n/a
10	ELK1	chr1:151762732-151762818	K562	blood:	n/a	n/a
11	NFYA	chr1:151762604-151763497	GM12878	blood:	n/a	chr1:151763168-151763183 chr1:151763168-151763183 chr1:151763168-151763182 chr1:151763170-151763180
12	CTCF	chr1:151762680-151762830	HCT-116	colon:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
13	GATA3	chr1:151762729-151763609	T-47D	breast:	n/a	n/a
14	PML	chr1:151762413-151763851	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr1:151762260-151764320	MCF-7	breast:	n/a	n/a
16	TCF12	chr1:151762601-151763691	ECC-1	luminal epithelium:	n/a	chr1:151763212-151763219
17	POLR2A	chr1:151762643-151763067	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr1:151762519-151763690	A549	lung:	n/a	n/a
19	POLR2A	chr1:151762628-151763095	A549	lung:	n/a	n/a
20	ZEB1	chr1:151762655-151762994	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:151762708-151763089	A549	lung:	n/a	n/a
22	RCOR1	chr1:151762583-151764112	K562	blood:	n/a	n/a
23	TCF12	chr1:151762529-151763726	A549	lung:	n/a	chr1:151763212-151763219
24	MAZ	chr1:151762677-151763171	HepG2	liver:	n/a	n/a
25	HEY1	chr1:151762691-151763050	K562	blood:	n/a	n/a
26	CTCF	chr1:151762732-151763105	K562	blood:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
27	MAX	chr1:151762329-151763658	HCT-116	colon:	n/a	n/a
28	HCFC1	chr1:151762728-151763558	K562	blood:	n/a	n/a
29	CTCF	chr1:151762711-151763269	GM12878	blood:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
30	CTCF	chr1:151762681-151763096	K562	blood:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
31	CHD2	chr1:151762704-151763559	GM12878	blood:	n/a	n/a
32	EGR1	chr1:151762486-151763462	HCT-116	colon:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 chr1:151762603-151762616 chr1:151763006-151763019 chr1:151763005-151763020 chr1:151762946-151762960 chr1:151763007-151763017 chr1:151763006-151763019 chr1:151763006-151763019 chr1:151763007-151763016 chr1:151763007-151763018 chr1:151763005-151763019
33	USF2	chr1:151762721-151762900	HepG2	liver:	n/a	n/a
34	YY1	chr1:151762569-151763116	K562	blood:	n/a	chr1:151763006-151763020 chr1:151763005-151763014 chr1:151762730-151762741
35	BACH1	chr1:151762578-151763116	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr1:151762525-151763190	HepG2	liver:	n/a	chr1:151763006-151763020 chr1:151763005-151763014 chr1:151762730-151762741
37	HEY1	chr1:151762668-151763571	HepG2	liver:	n/a	n/a
38	FOXM1	chr1:151762557-151763485	GM12878	blood:	n/a	n/a
39	TEAD4	chr1:151762611-151763634	K562	blood:	n/a	n/a
40	POU2F2	chr1:151762716-151763570	GM12878	blood:	n/a	chr1:151763007-151763019
41	TAF1	chr1:151762671-151763090	HepG2	liver:	n/a	n/a
42	SMC3	chr1:151762707-151763047	GM12878	blood:	n/a	n/a
43	MYC	chr1:151762562-151763667	K562	blood:	n/a	n/a
44	POLR2A	chr1:151762665-151763089	GM12878	blood:	n/a	n/a
45	MAX	chr1:151762638-151763715	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr1:151762605-151763640	ECC-1	luminal epithelium:	n/a	n/a
47	SIN3AK20	chr1:151762700-151763500	PFSK-1	brain:	n/a	n/a
48	TCF12	chr1:151762587-151763540	ECC-1	luminal epithelium:	n/a	chr1:151763212-151763219
49	PML	chr1:151762675-151763458	K562	blood:	n/a	n/a
50	MAX	chr1:151762441-151763762	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
2	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
3	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:
4	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
5	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
6	chr1:151727449..151729119-chr1:151762483..151764442,2	K562	blood:
7	chr1:151740105..151741815-chr1:151762387..151764682,2	MCF-7	breast:
8	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
9	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
10	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
11	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
12	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
13	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
14	chr1:151759662..151762835-chr1:151769243..151771568,4	K562	blood:
15	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
16	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203288	TF binding region
ENSG00000143376	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000269621	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000269489	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151761600-151763000	Flanking Active TSS	Dnd41	blood
2	chr1:151761800-151764600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:151762000-151763000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:151762000-151764200	Active TSS	Fetal Kidney	kidney
5	chr1:151762000-151764400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:151762000-151764400	Active TSS	Brain Germinal Matrix	brain
7	chr1:151762000-151764400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:151762000-151764600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:151762000-151764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:151762200-151762800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:151762200-151762800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:151762200-151762800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:151762200-151762800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:151762200-151762800	Flanking Active TSS	NHEK	skin
15	chr1:151762200-151763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151762200-151763000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:151762200-151763000	Flanking Active TSS	HUVEC	blood vessel
18	chr1:151762200-151763200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:151762200-151763800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr1:151762200-151764000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:151762200-151764000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:151762200-151764000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:151762200-151764000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:151762200-151764000	Active TSS	Fetal Brain Female	brain
25	chr1:151762200-151764200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:151762200-151764200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:151762200-151764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:151762200-151764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:151762200-151764400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:151762200-151764400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:151762200-151764400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:151762200-151764400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:151762200-151764400	Active TSS	Brain Angular Gyrus	brain
34	chr1:151762200-151764400	Active TSS	Brain Anterior Caudate	brain
35	chr1:151762200-151764400	Active TSS	A549	lung
36	chr1:151762200-151764400	Active TSS	HMEC	breast
37	chr1:151762200-151764600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:151762200-151764600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:151762200-151764600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:151762400-151762800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:151762400-151762800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr1:151762400-151762800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:151762400-151762800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:151762400-151762800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:151762400-151762800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:151762400-151762800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:151762400-151762800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:151762400-151762800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr1:151762400-151762800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr1:151762400-151762800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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