Variant report

Variant	rs1267299
Chromosome Location	chr1:47106949-47106950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47104490..47107129-chr1:47133398..47135731,2	MCF-7	breast:
2	chr1:47087818..47089652-chr1:47106481..47108594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186118	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1258062	0.93[AFR][1000 genomes]
rs2984805	0.93[AFR][1000 genomes]
rs599869	0.93[AFR][1000 genomes]
rs635972	0.93[AFR][1000 genomes]
rs644675	0.93[AFR][1000 genomes]
rs654509	0.93[AFR][1000 genomes]
rs659308	0.93[AFR][1000 genomes]
rs682000	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:47088600-47108800	Weak transcription	Hela-S3	cervix
6	chr1:47089800-47112400	Weak transcription	Small Intestine	intestine
7	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:47094600-47111000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:47095200-47107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:47095600-47109000	Strong transcription	Placenta	Placenta
12	chr1:47098200-47109000	Weak transcription	Esophagus	oesophagus
13	chr1:47098200-47113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:47098400-47112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:47100000-47113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:47100200-47107200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:47101200-47109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:47101600-47108800	Weak transcription	GM12878-XiMat	blood
19	chr1:47101600-47130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:47101800-47107000	Weak transcription	Fetal Thymus	thymus
22	chr1:47101800-47107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:47101800-47107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:47101800-47108000	Weak transcription	NH-A	brain
25	chr1:47101800-47108600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:47101800-47108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:47101800-47109000	Weak transcription	Pancreas	Pancrea
28	chr1:47101800-47112400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:47101800-47112600	Weak transcription	Lung	lung
30	chr1:47101800-47112800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:47101800-47113000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:47101800-47115000	Weak transcription	Dnd41	blood
33	chr1:47101800-47115200	Weak transcription	Gastric	stomach
34	chr1:47101800-47119000	Weak transcription	Colonic Mucosa	Colon
35	chr1:47101800-47121200	Weak transcription	HUVEC	blood vessel
36	chr1:47102000-47108600	Weak transcription	NHDF-Ad	bronchial
37	chr1:47102000-47108600	Weak transcription	Osteobl	bone
38	chr1:47102000-47115000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:47102000-47122400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:47102400-47108800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:47102400-47121400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:47102800-47107000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:47102800-47107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:47102800-47107200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:47102800-47107200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:47102800-47107200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:47102800-47107800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:47102800-47107800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:47102800-47108800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:47102800-47108800	Weak transcription	HSMMtube	muscle

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