Variant report

Variant	rs559278415
Chromosome Location	chr1:92762677-92762678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92762166..92764342-chr1:93135404..93137126,2	K562	blood:
2	chr1:92751144..92752872-chr1:92762540..92765121,2	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
4	chr1:92710600-92764000	Weak transcription	Gastric	stomach
5	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
6	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
7	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
8	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
13	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart
14	chr1:92727200-92763800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:92729800-92763800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:92732000-92763600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:92736000-92763600	Weak transcription	Liver	Liver
18	chr1:92736800-92763800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:92738000-92763800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:92738400-92763800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:92738800-92763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:92743200-92763600	Weak transcription	NHDF-Ad	bronchial
23	chr1:92744000-92764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:92745600-92764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:92745800-92763800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:92745800-92763800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:92745800-92764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:92745800-92764000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:92746000-92763600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:92746000-92763800	Weak transcription	Aorta	Aorta
31	chr1:92746000-92763800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:92746000-92764000	Weak transcription	Lung	lung
33	chr1:92751600-92763400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:92751600-92763800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:92752400-92763600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:92752800-92763800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:92753200-92763400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:92755000-92763200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:92755000-92763600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:92755400-92763400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:92755400-92763400	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:92755400-92763600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:92755400-92763600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:92755400-92763800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:92755400-92764000	Weak transcription	Left Ventricle	heart
46	chr1:92755600-92763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:92755600-92763800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:92755800-92763400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:92755800-92763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:92755800-92763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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