Variant report

Variant	rs572130789
Chromosome Location	chr1:193156149-193156150
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	MXI1	chr1:193154452-193157811	SK-N-SH	brain:	n/a	n/a
2	REST	chr1:193154882-193156208	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
B3GALT2	TF binding region

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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:193140400-193159800	Weak transcription	Dnd41	blood
3	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:193149600-193156600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:193149800-193156600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:193150200-193156400	Active TSS	Brain Angular Gyrus	brain
9	chr1:193150400-193157600	Active TSS	Fetal Brain Female	brain
10	chr1:193150800-193157000	Active TSS	HSMMtube	muscle
11	chr1:193151400-193156200	Active TSS	Brain Germinal Matrix	brain
12	chr1:193151600-193156200	Active TSS	Fetal Muscle Leg	muscle
13	chr1:193151600-193156600	Active TSS	NHLF	lung
14	chr1:193152000-193156200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:193152600-193156200	Active TSS	Brain Cingulate Gyrus	brain
16	chr1:193152600-193156600	Active TSS	Fetal Stomach	stomach
17	chr1:193153600-193156200	Active TSS	Brain Substantia Nigra	brain
18	chr1:193153600-193156400	Active TSS	Right Ventricle	heart
19	chr1:193153600-193158000	Active TSS	Right Atrium	heart
20	chr1:193154600-193156200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:193154600-193156200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:193154600-193156200	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:193154800-193156400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:193154800-193156800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:193154800-193157400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:193155000-193156200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:193155000-193156600	Enhancers	Primary T cells from cord blood	blood
28	chr1:193155000-193156600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:193155200-193156400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:193155200-193156400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:193155400-193156200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:193155400-193156200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:193155400-193156200	Active TSS	Fetal Lung	lung
34	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:193155600-193156200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:193155600-193156200	Active TSS	Aorta	Aorta
37	chr1:193155600-193156200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:193155600-193156400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:193155600-193156600	Weak transcription	Stomach Mucosa	stomach
40	chr1:193155600-193157200	Weak transcription	Small Intestine	intestine
41	chr1:193155600-193157400	Enhancers	Liver	Liver
42	chr1:193155600-193157600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:193155600-193158200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:193155600-193160000	Weak transcription	Gastric	stomach
45	chr1:193155600-193160200	Weak transcription	K562	blood
46	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
47	chr1:193155800-193156200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:193155800-193156200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:193155800-193156200	Enhancers	Adipose Nuclei	Adipose
50	chr1:193155800-193156200	Enhancers	Colon Smooth Muscle	Colon

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