Variant report

Variant	rs575432364
Chromosome Location	chr1:70768269-70768270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	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
3	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv871430	chr1:70765659-70819912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	esv2555384	chr1:70767423-70768865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1997734	chr1:70767925-70768625	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
10	esv3320176	chr1:70767989-70768541	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
11	esv3510089	chr1:70768023-70768547	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
12	esv3510087	chr1:70768028-70768516	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv3320175	chr1:70768038-70768502	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
14	esv3510084	chr1:70768041-70768471	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
15	esv3320177	chr1:70768049-70768507	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
16	esv3510090	chr1:70768057-70768488	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
17	esv3320178	chr1:70768061-70768460	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
18	esv3510088	chr1:70768069-70768486	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv4055	chr1:70768074-70768492	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
20	esv3320174	chr1:70768096-70768442	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
21	esv3510085	chr1:70768108-70768453	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
22	esv3320179	chr1:70768112-70768451	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
23	esv3510091	chr1:70768112-70768451	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
4	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
7	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:70719200-70783800	Weak transcription	A549	lung
11	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
12	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
13	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
15	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
17	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
18	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:70752800-70793400	Weak transcription	Gastric	stomach
20	chr1:70753600-70768800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:70753600-70769000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:70754200-70768800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:70754200-70780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:70754600-70775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:70755600-70768800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:70755800-70775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:70757000-70769200	Weak transcription	Colonic Mucosa	Colon
28	chr1:70757000-70799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:70757400-70768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:70757800-70786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:70757800-70799400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
34	chr1:70759200-70768800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:70759400-70785400	Weak transcription	HMEC	breast
36	chr1:70760200-70799800	Weak transcription	Lung	lung
37	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
39	chr1:70760600-70769800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:70760600-70772600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:70760600-70773200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:70760600-70776400	Weak transcription	Left Ventricle	heart
43	chr1:70760600-70783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:70760600-70818200	Weak transcription	Aorta	Aorta
45	chr1:70760600-70818600	Weak transcription	Thymus	Thymus
46	chr1:70761800-70770200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:70761800-70785400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:70762000-70817600	Weak transcription	NHLF	lung
49	chr1:70762200-70818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:70763600-70775000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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