Variant report

Variant	rs576405428
Chromosome Location	chr12:123319817-123319818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:123318630-123320242	H1-neurons	neurons:	n/a	chr12:123319293-123319311 chr12:123319300-123319310 chr12:123319274-123319284
2	MAZ	chr12:123319549-123320521	K562	blood:	n/a	n/a
3	POLR2A	chr12:123319795-123320208	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:123319758-123321039	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:123319811-123320183	HUVEC	blood vessel:	n/a	n/a
6	CHD2	chr12:123318948-123320148	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr12:123319452-123320180	K562	blood:	n/a	n/a
8	EGR1	chr12:123319815-123320052	K562	blood:	n/a	n/a
9	POLR2A	chr12:123318838-123321032	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr12:123318640-123321802	SK-N-SH	brain:	n/a	n/a
11	TAF1	chr12:123318756-123319915	H1-neurons	neurons:	n/a	n/a
12	ZBTB7A	chr12:123319392-123319931	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr12:123318764-123319937	H1-neurons	neurons:	n/a	n/a
14	MAX	chr12:123318714-123320318	A549	lung:	n/a	n/a
15	ZBTB7A	chr12:123318998-123320031	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr12:123318783-123320223	H1-neurons	neurons:	n/a	n/a
17	MAX	chr12:123319806-123320302	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123317692..123320507-chr12:123463597..123466562,3	MCF-7	breast:
3	chr12:123318894..123320705-chr12:123342894..123344549,3	MCF-7	breast:
4	chr12:123257747..123262116-chr12:123318149..123321331,4	MCF-7	breast:
5	chr12:123318760..123321217-chr12:123449684..123452450,2	K562	blood:
6	chr12:123318632..123320877-chr12:123355595..123357643,2	MCF-7	breast:
7	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
8	chr12:123237061..123238610-chr12:123318389..123320839,2	MCF-7	breast:
9	chr12:123318837..123320791-chr12:123463752..123466824,3	MCF-7	breast:
10	chr12:123318920..123320804-chr12:123431971..123434703,2	MCF-7	breast:
11	chr12:123319135..123321319-chr3:160936978..160939441,2	MCF-7	breast:
12	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
13	chr12:123319262..123321924-chr12:123450152..123453465,3	K562	blood:
14	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
15	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:

No data

Variant related genes	Relation type
HIP1R	TF binding region
ENSG00000130783	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000256152	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3373177	chr12:123318824-123321872	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3360797	chr12:123318974-123321472	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3321940	chr12:123319399-123321597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123318800-123320600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:123318800-123320600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:123318800-123320600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:123318800-123321000	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:123318800-123321200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:123318800-123321200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:123318800-123321600	Active TSS	Brain Hippocampus Middle	brain
8	chr12:123318800-123321600	Active TSS	Ovary	ovary
9	chr12:123318800-123321600	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:123318800-123322400	Active TSS	Brain Angular Gyrus	brain
11	chr12:123318800-123322400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:123319000-123320400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:123319000-123320600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:123319000-123320600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:123319000-123321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123319000-123321000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:123319000-123321400	Active TSS	Brain Anterior Caudate	brain
18	chr12:123319000-123321600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:123319000-123321600	Active TSS	Left Ventricle	heart
20	chr12:123319000-123321600	Active TSS	Right Ventricle	heart
21	chr12:123319000-123321800	Active TSS	Right Atrium	heart
22	chr12:123319000-123322000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:123319200-123320000	Active TSS	Brain Germinal Matrix	brain
24	chr12:123319200-123320800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:123319200-123320800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:123319200-123321000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:123319200-123321000	Active TSS	Fetal Brain Female	brain
28	chr12:123319200-123321200	Active TSS	NHDF-Ad	bronchial
29	chr12:123319200-123321400	Active TSS	Gastric	stomach
30	chr12:123319200-123321600	Active TSS	Esophagus	oesophagus
31	chr12:123319200-123321600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:123319200-123321800	Active TSS	Aorta	Aorta
33	chr12:123319200-123321800	Active TSS	Brain Substantia Nigra	brain
34	chr12:123319400-123320000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:123319400-123320600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:123319400-123321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:123319600-123320400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:123319600-123320600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:123319600-123320600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123319600-123320600	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:123319600-123320600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:123319600-123320600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:123319600-123320600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:123319600-123320600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:123319600-123320600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:123319600-123320600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:123319600-123320600	Active TSS	Adipose Nuclei	Adipose
48	chr12:123319600-123320600	Weak transcription	Fetal Heart	heart
49	chr12:123319600-123320600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:123319600-123320600	Active TSS	HepG2	liver

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