Variant report

Variant	rs542596759
Chromosome Location	chr1:70756725-70756726
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70754539..70757026-chr1:70759738..70761515,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
3	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
4	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
6	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
9	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:70717800-70758000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:70717800-70761200	Weak transcription	NHLF	lung
16	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:70719000-70758800	Weak transcription	HMEC	breast
19	chr1:70719200-70783800	Weak transcription	A549	lung
20	chr1:70723600-70756800	Weak transcription	Lung	lung
21	chr1:70728600-70761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:70731400-70756800	Weak transcription	Left Ventricle	heart
23	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
24	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
25	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:70734400-70756800	Weak transcription	Thymus	Thymus
27	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
28	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:70736200-70762000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:70737400-70756800	Weak transcription	HSMM	muscle
31	chr1:70740600-70759600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:70740600-70767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:70742600-70758400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:70743400-70757800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
36	chr1:70746400-70758800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:70746600-70757200	Weak transcription	Fetal Brain Male	brain
38	chr1:70746800-70759000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:70746800-70759000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
41	chr1:70747600-70757400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:70751200-70759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:70752400-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:70752800-70793400	Weak transcription	Gastric	stomach
46	chr1:70753000-70762000	Strong transcription	Primary T cells from cord blood	blood
47	chr1:70753400-70761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:70753400-70761800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:70753400-70762000	Strong transcription	Fetal Intestine Large	intestine
50	chr1:70753600-70761800	Strong transcription	Duodenum Mucosa	Duodenum

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