Variant report

Variant	rs12741805
Chromosome Location	chr1:70761314-70761315
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70754539..70757026-chr1:70759738..70761515,2	K562	blood:
2	chr1:70761212..70763376-chr1:70772596..70774368,2	K562	blood:
3	chr1:70705179..70706922-chr1:70760768..70763689,2	K562	blood:
4	chr1:70670547..70673150-chr1:70760929..70763801,2	K562	blood:

Variant related genes	Relation type
ENSG00000066557	Chromatin interaction
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10518334	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12139863	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs12725762	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12737233	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34778519	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482291	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs490574	1.00[JPT][hapmap]
rs508310	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs542842	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs664051	0.86[CHB][hapmap];0.85[JPT][hapmap]

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	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:70719200-70783800	Weak transcription	A549	lung
15	chr1:70728600-70761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
17	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
18	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
20	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:70736200-70762000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:70740600-70767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
24	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
25	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:70752400-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:70752800-70793400	Weak transcription	Gastric	stomach
28	chr1:70753000-70762000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:70753400-70761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:70753400-70761800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:70753400-70762000	Strong transcription	Fetal Intestine Large	intestine
32	chr1:70753600-70761800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:70753600-70766600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:70753600-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:70753600-70768800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:70753600-70769000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:70753800-70762000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:70754200-70768800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:70754200-70780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:70754400-70762400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:70754400-70762600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:70754400-70762600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:70754400-70767600	Strong transcription	Dnd41	blood
44	chr1:70754400-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:70754600-70775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:70755400-70762200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:70755400-70762800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:70755400-70762800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:70755600-70762600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:70755600-70762800	Strong transcription	Rectal Mucosa Donor 29	rectum

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