Variant report

Variant	rs12072695
Chromosome Location	chr1:149890961-149890962
allele	A/C
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	STAT3	chr1:149890875-149891191	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr1:149890823-149891110	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:149890590-149891127	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr1:149890796-149891054	SH-SY5Y	brain:	n/a	n/a
5	MYC	chr1:149890864-149891101	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SV2A	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12082922	1.00[AFR][1000 genomes]
rs12083986	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149889200-149894400	Weak transcription	Liver	Liver
2	chr1:149889400-149893800	Weak transcription	Placenta	Placenta
3	chr1:149889400-149894400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:149889400-149894600	Weak transcription	Gastric	stomach
5	chr1:149889400-149894600	Weak transcription	Pancreas	Pancrea
6	chr1:149889400-149894600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:149889400-149894600	Weak transcription	HMEC	breast
8	chr1:149889400-149894800	Weak transcription	Esophagus	oesophagus
9	chr1:149889400-149894800	Weak transcription	HSMMtube	muscle
10	chr1:149889600-149894200	Weak transcription	Right Ventricle	heart
11	chr1:149889600-149894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:149889600-149895200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:149889800-149891200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:149889800-149891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:149889800-149892600	Weak transcription	Primary T cells from cord blood	blood
16	chr1:149889800-149893400	Weak transcription	HSMM	muscle
17	chr1:149889800-149893600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:149889800-149893600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:149889800-149893600	Weak transcription	NH-A	brain
20	chr1:149889800-149893800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:149889800-149894000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:149889800-149894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:149889800-149894200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:149889800-149894200	Weak transcription	Fetal Thymus	thymus
25	chr1:149889800-149894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:149889800-149894400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:149889800-149894400	Weak transcription	Ovary	ovary
28	chr1:149889800-149894400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:149889800-149894600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:149889800-149894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:149889800-149894600	Weak transcription	Lung	lung
32	chr1:149889800-149894600	Weak transcription	Spleen	Spleen
33	chr1:149889800-149895200	Weak transcription	Colonic Mucosa	Colon
34	chr1:149889800-149895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:149889800-149895400	Weak transcription	Aorta	Aorta
36	chr1:149889800-149896400	Weak transcription	Fetal Heart	heart
37	chr1:149890000-149891000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:149890000-149891000	Enhancers	Brain Angular Gyrus	brain
39	chr1:149890000-149891000	Enhancers	Brain Germinal Matrix	brain
40	chr1:149890000-149892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:149890000-149892800	Weak transcription	Fetal Stomach	stomach
42	chr1:149890000-149893400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:149890000-149893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:149890000-149893600	Weak transcription	Osteobl	bone
45	chr1:149890000-149894200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:149890000-149894200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:149890000-149894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:149890000-149894400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:149890000-149894400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:149890000-149894400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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