Variant report

Variant	rs1418978
Chromosome Location	chr1:56971724-56971725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56970988..56973563-chr1:56974719..56979116,4	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4912314	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
5	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
8	chr1:56959800-56972800	Weak transcription	Dnd41	blood
9	chr1:56960800-56976000	Genic enhancers	HepG2	liver
10	chr1:56961400-56972600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:56961400-56972800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:56961600-56971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:56962000-56971800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:56962400-56976000	Weak transcription	NH-A	brain
15	chr1:56962600-56972200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:56964200-56972600	Weak transcription	Small Intestine	intestine
17	chr1:56964800-56976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:56964800-56979200	Genic enhancers	NHDF-Ad	bronchial
19	chr1:56965000-56975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:56965200-56971800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:56965200-56972200	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr1:56965200-56975600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:56965200-56975600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:56965800-56975600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:56965800-56975800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:56966000-56980600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:56966800-56974600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:56966800-56975800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:56967200-56971800	Strong transcription	HSMM	muscle
31	chr1:56967400-56978400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:56967800-56972000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:56967800-56975600	Weak transcription	Fetal Brain Male	brain
34	chr1:56968000-56976000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:56968200-56975000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:56968200-56975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:56968400-56972600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:56968600-56971800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:56968600-56972000	Strong transcription	Fetal Lung	lung
40	chr1:56968600-56973000	Weak transcription	Brain Anterior Caudate	brain
41	chr1:56968600-56975600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:56968800-56972200	Strong transcription	NHLF	lung
43	chr1:56968800-56972400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:56968800-56972400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:56968800-56973000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:56968800-56973800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:56968800-56974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:56968800-56974400	Strong transcription	A549	lung
49	chr1:56969000-56979200	Genic enhancers	Lung	lung
50	chr1:56969400-56973200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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