Variant report

Variant	rs199585718
Chromosome Location	chr1:226924510-226924511
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3338179	chr1:226923854-226926702	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr1:226912400-226924600	Weak transcription	Ovary	ovary
4	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
5	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
6	chr1:226918600-226925000	Transcr. at gene 5' and 3'	Thymus	Thymus
7	chr1:226918800-226925000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
8	chr1:226918800-226925800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:226920000-226925200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:226920400-226924600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:226920400-226924600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:226920400-226924600	Genic enhancers	Fetal Lung	lung
13	chr1:226920400-226924800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
14	chr1:226920400-226924800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr1:226920400-226925000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
16	chr1:226920400-226927000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
17	chr1:226920600-226924600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
18	chr1:226920600-226924800	Strong transcription	NHEK	skin
19	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
22	chr1:226920800-226927200	Active TSS	Psoas Muscle	Psoas
23	chr1:226921000-226924800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:226921000-226927600	Active TSS	Right Atrium	heart
25	chr1:226921200-226924800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
27	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
28	chr1:226921800-226924600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
29	chr1:226922000-226924800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
30	chr1:226922200-226925000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
31	chr1:226922400-226924800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:226922400-226925000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
33	chr1:226922400-226925000	Enhancers	Liver	Liver
34	chr1:226922600-226924600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:226922600-226924600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
36	chr1:226922600-226924600	Weak transcription	HMEC	breast
37	chr1:226922600-226924600	Weak transcription	NHDF-Ad	bronchial
38	chr1:226922600-226924800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:226922600-226924800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
40	chr1:226922600-226925000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:226922600-226927000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:226922800-226925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:226922800-226927000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr1:226923000-226924600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:226923000-226924600	Genic enhancers	Gastric	stomach
46	chr1:226923000-226925000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
47	chr1:226923000-226925000	Transcr. at gene 5' and 3'	Lung	lung
48	chr1:226923200-226924600	Weak transcription	Fetal Kidney	kidney
49	chr1:226923200-226924600	Enhancers	NH-A	brain
50	chr1:226923200-226924800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon

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