Variant report

Variant	rs568490439
Chromosome Location	chr12:49916161-49916162
allele	G/T
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	GATA3	chr12:49916118-49916282	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49915417..49918018-chr12:49960149..49961960,3	MCF-7	breast:

Variant related genes	Relation type
SPATS2	TF binding region
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
5	chr12:49878600-49918600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:49882200-49918800	Weak transcription	Colonic Mucosa	Colon
7	chr12:49882400-49918400	Weak transcription	Lung	lung
8	chr12:49882600-49916400	Weak transcription	Aorta	Aorta
9	chr12:49884200-49918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:49884200-49918600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:49884600-49916400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:49886000-49918400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:49886400-49918200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:49888800-49927800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:49890800-49918600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:49890800-49918600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:49891000-49916600	Weak transcription	Ovary	ovary
18	chr12:49894000-49916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:49894000-49919600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:49896000-49916800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:49896400-49916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:49896800-49916400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:49896800-49916400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:49896800-49916600	Weak transcription	Fetal Thymus	thymus
25	chr12:49898200-49916400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:49898200-49918400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:49900000-49916400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:49900600-49916400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:49900600-49916600	Weak transcription	Left Ventricle	heart
30	chr12:49905000-49918600	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:49905200-49927000	Weak transcription	Fetal Heart	heart
32	chr12:49905400-49918400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:49905600-49919000	Weak transcription	HepG2	liver
34	chr12:49907200-49918400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:49909600-49916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:49909600-49918800	Weak transcription	HMEC	breast
37	chr12:49909600-49925600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:49909800-49918600	Weak transcription	Liver	Liver
39	chr12:49910600-49921600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:49911000-49923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:49911200-49922000	Strong transcription	Fetal Intestine Large	intestine
42	chr12:49911400-49916400	Weak transcription	Fetal Lung	lung
43	chr12:49911400-49917200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:49911400-49918400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:49911600-49916600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:49911800-49918400	Weak transcription	HSMM	muscle
47	chr12:49912600-49926400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:49912800-49922600	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:49913000-49917800	Weak transcription	K562	blood
50	chr12:49913000-49921400	Weak transcription	NHDF-Ad	bronchial

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