Variant report

Variant	rs572675598
Chromosome Location	chr12:39725842-39725843
allele	A/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	chr12:39725588-39725882	SH-SY5Y	brain:	n/a	chr12:39725867-39725877

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:
2	chr12:39723120..39728244-chr12:39834929..39837982,4	MCF-7	breast:

Variant related genes	Relation type
KIF21A	TF binding region
ENSG00000252974	Chromatin interaction
ENSG00000139116	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	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv558590	chr12:39724344-39751273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
3	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
5	chr12:39695000-39726400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:39695000-39726400	Weak transcription	HepG2	liver
7	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
9	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
10	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:39701000-39726400	Weak transcription	Left Ventricle	heart
12	chr12:39704200-39746200	Weak transcription	HUVEC	blood vessel
13	chr12:39711200-39726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:39714800-39727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:39715600-39741800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:39717800-39727400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:39718400-39756800	Weak transcription	HSMM	muscle
18	chr12:39721000-39770600	Weak transcription	Gastric	stomach
19	chr12:39721600-39734600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:39721600-39752400	Weak transcription	Right Ventricle	heart
21	chr12:39722000-39729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:39722400-39726000	Strong transcription	Fetal Brain Female	brain
23	chr12:39722600-39726400	Weak transcription	Ovary	ovary
24	chr12:39722600-39737000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:39723000-39734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:39723000-39736200	Weak transcription	NH-A	brain
28	chr12:39723400-39727000	Strong transcription	Adipose Nuclei	Adipose
29	chr12:39723400-39727200	Strong transcription	Liver	Liver
30	chr12:39723400-39727200	Strong transcription	Hela-S3	cervix
31	chr12:39723600-39735600	Weak transcription	Osteobl	bone
32	chr12:39723800-39726400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr12:39723800-39727200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:39723800-39727600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:39724000-39726000	Weak transcription	Stomach Mucosa	stomach
36	chr12:39724000-39726800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:39724000-39726800	Strong transcription	Brain Substantia Nigra	brain
38	chr12:39724000-39726800	Strong transcription	Placenta	Placenta
39	chr12:39724000-39727000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:39724000-39727000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:39724000-39727000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:39724000-39727000	Strong transcription	Brain Anterior Caudate	brain
43	chr12:39724000-39727000	Strong transcription	Brain Germinal Matrix	brain
44	chr12:39724000-39727000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:39724000-39727000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:39724000-39727000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:39724000-39727000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:39724000-39727000	Strong transcription	NHEK	skin
49	chr12:39724000-39727200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:39724000-39727200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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