Variant report

Variant	rs531480546
Chromosome Location	chr1:226375052-226375053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:226373791-226375055	A549	lung:	n/a	n/a
2	REST	chr1:226373693-226375096	H1-neurons	neurons:	n/a	chr1:226374665-226374685
3	ZMIZ1	chr1:226373910-226375153	K562	blood:	n/a	n/a
4	HCFC1	chr1:226373027-226375082	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr1:226373899-226375090	HepG2	liver:	n/a	n/a
6	JUND	chr1:226374043-226375150	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:226374155-226375074	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:226373447-226375324	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:226373663-226375097	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:226374008-226375106	SK-N-MC	brain:	n/a	n/a
11	HCFC1	chr1:226373871-226375057	K562	blood:	n/a	n/a
12	MTA3	chr1:226373688-226375192	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr1:226374258-226375071	ECC-1	luminal epithelium:	n/a	chr1:226374556-226374567
14	POLR2A	chr1:226373803-226375055	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:226374223-226375272	K562	blood:	n/a	n/a
16	GABPA	chr1:226373969-226375264	MCF-7	breast:	n/a	n/a
17	TBL1XR1	chr1:226374282-226375192	K562	blood:	n/a	n/a
18	POLR2A	chr1:226373047-226375319	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:226373930-226375061	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:226375013-226375072	HUVEC	blood vessel:	n/a	n/a
21	PML	chr1:226374019-226375085	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:226373945-226375154	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:226373778-226375216	GM12891	blood:	n/a	n/a
24	MAX	chr1:226374074-226375059	A549	lung:	n/a	chr1:226374543-226374552
25	MXI1	chr1:226372734-226375432	SK-N-SH	brain:	n/a	n/a
26	REST	chr1:226374134-226375085	A549	lung:	n/a	chr1:226374665-226374685
27	MAZ	chr1:226373604-226375148	GM12878	blood:	n/a	chr1:226374543-226374552

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
4	chr1:226374796..226376428-chr1:226594450..226597292,2	K562	blood:
5	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
6	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
7	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000223570	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
3	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
5	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
7	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:226373000-226375200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:226373000-226375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:226373000-226375200	Active TSS	Fetal Intestine Small	intestine
11	chr1:226373000-226375200	Active TSS	Fetal Muscle Leg	muscle
12	chr1:226373200-226375200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:226373200-226375200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:226373200-226375200	Active TSS	K562	blood
15	chr1:226373400-226375400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:226373400-226375400	Active TSS	Hela-S3	cervix
17	chr1:226373600-226375200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:226373600-226375200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:226373600-226375200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:226373600-226375200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:226373600-226375200	Active TSS	Brain Anterior Caudate	brain
22	chr1:226373600-226375200	Active TSS	Brain Hippocampus Middle	brain
23	chr1:226373600-226375200	Active TSS	Brain Substantia Nigra	brain
24	chr1:226373600-226375400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:226373600-226375400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:226373800-226375200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:226373800-226375200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:226373800-226375200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:226374600-226375200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:226374600-226375200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:226374600-226375200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:226374600-226375200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:226374600-226375200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:226374600-226375200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr1:226374600-226375200	Flanking Active TSS	Thymus	Thymus
36	chr1:226374600-226375200	Flanking Active TSS	HMEC	breast
37	chr1:226374600-226375200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:226374800-226375200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:226374800-226375200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:226374800-226375200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:226374800-226375200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr1:226374800-226375200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:226374800-226375200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:226374800-226375200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr1:226374800-226375200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:226374800-226375200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:226374800-226375200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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