Variant report

Variant	rs530782935
Chromosome Location	chr1:84671889-84671890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84662036..84663948-chr1:84669561..84672181,4	K562	blood:
2	chr1:84671668..84674166-chr1:84678982..84681039,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
7	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1816427	chr1:84670816-84715634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv1823244	chr1:84670816-84715634	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv1824568	chr1:84670816-84715634	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr1:84652200-84675000	Weak transcription	Pancreas	Pancrea
2	chr1:84652400-84689800	Weak transcription	Aorta	Aorta
3	chr1:84653400-84674800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:84657600-84708000	Weak transcription	Left Ventricle	heart
5	chr1:84659000-84672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:84659000-84674600	Weak transcription	Osteobl	bone
7	chr1:84659000-84685000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:84659000-84700600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:84659000-84700800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:84659200-84677000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:84659200-84688400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:84659400-84672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:84659400-84675200	Strong transcription	Dnd41	blood
14	chr1:84659400-84677200	Weak transcription	Psoas Muscle	Psoas
15	chr1:84659400-84685400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:84659600-84672000	Weak transcription	HMEC	breast
17	chr1:84659600-84673600	Weak transcription	Placenta	Placenta
18	chr1:84659600-84675000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:84659800-84701400	Weak transcription	NHLF	lung
20	chr1:84660200-84672400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:84660400-84674400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:84660600-84683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:84660600-84686200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:84660800-84688400	Weak transcription	Fetal Brain Male	brain
25	chr1:84662600-84673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:84663200-84684600	Weak transcription	Hela-S3	cervix
27	chr1:84665200-84672000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:84665200-84672200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:84665200-84700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:84665400-84672000	Weak transcription	Ovary	ovary
31	chr1:84665400-84672200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:84665400-84673800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:84665400-84674800	Weak transcription	NH-A	brain
34	chr1:84665400-84684000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:84665400-84684600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:84665400-84685200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:84665400-84687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:84665400-84700600	Weak transcription	Colonic Mucosa	Colon
39	chr1:84665400-84701000	Weak transcription	Fetal Kidney	kidney
40	chr1:84665600-84672000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:84665600-84672000	Weak transcription	Liver	Liver
42	chr1:84665600-84684800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:84665800-84672000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:84665800-84672000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:84665800-84680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:84665800-84681800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:84665800-84684400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:84666000-84672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:84666000-84672000	Weak transcription	Fetal Brain Female	brain
50	chr1:84666000-84672000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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