Variant report

Variant	rs567455247
Chromosome Location	chr1:70881858-70881859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70881141..70883419-chr1:70894353..70896787,2	K562	blood:
2	chr1:70819400..70821929-chr1:70880348..70882771,2	K562	blood:
3	chr1:70880695..70883325-chr1:70886922..70888578,2	K562	blood:

Variant related genes	Relation type
ENSG00000197568	Chromatin interaction
ENSG00000118454	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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461817	chr1:70880717-70887183	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv546455	chr1:70880717-70887183	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70877400-70898600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:70877400-70900600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:70877400-70900600	Weak transcription	Lung	lung
4	chr1:70877400-70901800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:70877400-70903400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:70877400-70906400	Weak transcription	Small Intestine	intestine
7	chr1:70877400-70906600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:70877600-70891000	Weak transcription	Left Ventricle	heart
9	chr1:70877600-70892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:70877800-70882000	Weak transcription	Fetal Stomach	stomach
11	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:70878000-70899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:70878000-70903400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:70878200-70882400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:70878200-70882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:70878200-70885000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:70878200-70891000	Weak transcription	Aorta	Aorta
19	chr1:70878200-70899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
21	chr1:70878200-70909600	Weak transcription	Gastric	stomach
22	chr1:70878400-70883600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:70878400-70885600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:70878400-70891000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:70878400-70895400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:70878400-70896600	Weak transcription	Adipose Nuclei	Adipose
27	chr1:70878400-70897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:70878400-70897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:70878400-70897800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:70878400-70899200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:70878400-70901800	Weak transcription	Colonic Mucosa	Colon
32	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:70878600-70882000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:70878600-70883400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:70878600-70883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:70878600-70883800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:70878600-70884000	Weak transcription	Osteobl	bone
38	chr1:70878600-70891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:70878600-70891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:70878600-70892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:70878600-70894600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:70878600-70896600	Weak transcription	Fetal Lung	lung
43	chr1:70878600-70902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:70878600-70903800	Weak transcription	HSMMtube	muscle
45	chr1:70878600-70906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:70878800-70882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:70878800-70883000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:70878800-70883200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:70878800-70883800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:70878800-70883800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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