Variant report

Variant	rs561578444
Chromosome Location	chr1:151762819-151762820
allele	C/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	CTCF	chr1:151762800-151762950	GM12869	blood:	n/a	chr1:151762800-151762818
4	POLR2A	chr1:151762656-151763140	A549	lung:	n/a	n/a
5	JUND	chr1:151762648-151763398	K562	blood:	n/a	chr1:151763172-151763181
6	EP300	chr1:151762809-151763411	SK-N-SH_RA	brain:	n/a	n/a
7	MAZ	chr1:151762656-151763579	GM12878	blood:	n/a	n/a
8	CREB1	chr1:151762604-151763745	HepG2	liver:	n/a	n/a
9	NR2F2	chr1:151762547-151763087	K562	blood:	n/a	n/a
10	TCF12	chr1:151762798-151763033	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:151762760-151762910	HEEpiC	esophagus:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
12	TAF1	chr1:151762776-151763101	K562	blood:	n/a	n/a
13	TBP	chr1:151762804-151763412	GM12878	blood:	n/a	n/a
14	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
15	CTCF	chr1:151762780-151762930	HepG2	liver:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
16	HDAC2	chr1:151762308-151764216	MCF-7	breast:	n/a	n/a
17	EGR1	chr1:151762805-151763121	GM12878	blood:	n/a	chr1:151763006-151763016 chr1:151763006-151763019 chr1:151763007-151763017 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
18	CUX1	chr1:151762761-151762943	K562	blood:	n/a	n/a
19	POLR2A	chr1:151762743-151763523	GM18505	blood:	n/a	n/a
20	SP2	chr1:151762771-151763471	K562	blood:	n/a	chr1:151763171-151763181
21	RAD21	chr1:151762785-151762990	K562	blood:	n/a	n/a
22	NFYA	chr1:151762604-151763497	GM12878	blood:	n/a	chr1:151763168-151763183 chr1:151763168-151763183 chr1:151763168-151763182 chr1:151763170-151763180
23	SP1	chr1:151762792-151763591	GM12878	blood:	n/a	chr1:151763004-151763013 chr1:151763169-151763190 chr1:151763004-151763013 chr1:151763003-151763015 chr1:151763005-151763014
24	CTCF	chr1:151762680-151762830	HCT-116	colon:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
25	CTCF	chr1:151762760-151762910	SK-N-SH_RA	brain:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
26	GATA3	chr1:151762729-151763609	T-47D	breast:	n/a	n/a
27	ELF1	chr1:151762769-151763433	A549	lung:	n/a	n/a
28	CTCF	chr1:151762780-151762930	SK-N-SH_RA	brain:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
29	WRNIP1	chr1:151762748-151762886	GM12878	blood:	n/a	n/a
30	PML	chr1:151762413-151763851	MCF-7	breast:	n/a	n/a
31	SIN3AK20	chr1:151762260-151764320	MCF-7	breast:	n/a	n/a
32	TCF12	chr1:151762601-151763691	ECC-1	luminal epithelium:	n/a	chr1:151763212-151763219
33	CTCF	chr1:151762756-151763050	GM19240	blood:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
34	POLR2A	chr1:151762643-151763067	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr1:151762519-151763690	A549	lung:	n/a	n/a
36	CTCF	chr1:151762760-151762910	NHEK	skin:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
37	CTCF	chr1:151762760-151762910	HMF	breast:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
38	POLR2A	chr1:151762628-151763095	A549	lung:	n/a	n/a
39	ZEB1	chr1:151762655-151762994	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:151762708-151763089	A549	lung:	n/a	n/a
41	POLR2A	chr1:151762737-151763460	HCT-116	colon:	n/a	n/a
42	ELF1	chr1:151762740-151763391	K562	blood:	n/a	n/a
43	RCOR1	chr1:151762583-151764112	K562	blood:	n/a	n/a
44	TCF12	chr1:151762529-151763726	A549	lung:	n/a	chr1:151763212-151763219
45	CTCF	chr1:151762766-151763070	IMR90	lung:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
46	MAZ	chr1:151762677-151763171	HepG2	liver:	n/a	n/a
47	HEY1	chr1:151762691-151763050	K562	blood:	n/a	n/a
48	CTCF	chr1:151762732-151763105	K562	blood:	n/a	chr1:151762795-151762816 chr1:151762800-151762818
49	MAX	chr1:151762329-151763658	HCT-116	colon:	n/a	n/a
50	HCFC1	chr1:151762728-151763558	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	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
10	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
11	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
12	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
13	chr1:151759662..151762835-chr1:151769243..151771568,4	K562	blood:
14	chr1:151762360..151764432-chr1:151777142..151778868,2	MCF-7	breast:
15	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203288	TF binding region
ENSG00000143376	Chromatin interaction
ENSG00000269621	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000232937	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	chr1:151762200-151763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:151762200-151763000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:151762200-151763000	Flanking Active TSS	HUVEC	blood vessel
13	chr1:151762200-151763200	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:151762200-151763800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:151762200-151764000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:151762200-151764000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:151762200-151764000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:151762200-151764000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:151762200-151764000	Active TSS	Fetal Brain Female	brain
20	chr1:151762200-151764200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:151762200-151764200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:151762200-151764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:151762200-151764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:151762200-151764400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:151762200-151764400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:151762200-151764400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:151762200-151764400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:151762200-151764400	Active TSS	Brain Angular Gyrus	brain
29	chr1:151762200-151764400	Active TSS	Brain Anterior Caudate	brain
30	chr1:151762200-151764400	Active TSS	A549	lung
31	chr1:151762200-151764400	Active TSS	HMEC	breast
32	chr1:151762200-151764600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:151762200-151764600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:151762200-151764600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:151762400-151763000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:151762400-151763000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:151762400-151763000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr1:151762400-151763000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151762400-151763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:151762400-151763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:151762400-151763000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:151762400-151763000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:151762400-151763000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:151762400-151763000	Flanking Active TSS	Liver	Liver
45	chr1:151762400-151763000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:151762400-151763000	Flanking Active TSS	NH-A	brain
47	chr1:151762400-151763400	Active TSS	Fetal Intestine Large	intestine
48	chr1:151762400-151763600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:151762400-151763800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:151762400-151763800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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