Variant report

Variant	rs628385
Chromosome Location	chr1:62915451-62915452
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62915302..62917665-chr1:62927011..62928791,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1168007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168024	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1185619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs626209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631982	1.00[AFR][1000 genomes];1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
2	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
3	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
5	chr1:62904800-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:62905400-62926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62905600-62923200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:62905800-62919400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr1:62906000-62922200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:62906000-62923400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:62906000-62925200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:62906200-62921200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:62906200-62923200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:62906200-62923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:62906400-62918800	Strong transcription	K562	blood
16	chr1:62906400-62919000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:62906400-62923400	Strong transcription	Placenta	Placenta
18	chr1:62906600-62922600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:62906800-62919000	Strong transcription	Hela-S3	cervix
20	chr1:62906800-62920000	Strong transcription	Fetal Thymus	thymus
21	chr1:62907000-62917400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:62907000-62918400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:62907000-62918600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:62907000-62918600	Strong transcription	Fetal Lung	lung
25	chr1:62907000-62918600	Strong transcription	HSMM	muscle
26	chr1:62907000-62918800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:62907000-62919400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:62907000-62919800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:62907000-62919800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:62907000-62923400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:62907000-62923600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:62907000-62928000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:62907200-62916000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:62907200-62916600	Strong transcription	Brain Anterior Caudate	brain
35	chr1:62907200-62918600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:62907200-62920000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:62907200-62921800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:62907200-62923600	Strong transcription	Liver	Liver
39	chr1:62907200-62924000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62907200-62924200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:62907400-62915800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:62907400-62916000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:62907400-62916200	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:62907400-62917400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:62907400-62918800	Strong transcription	Adipose Nuclei	Adipose
46	chr1:62907400-62919200	Strong transcription	HepG2	liver
47	chr1:62907400-62919800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:62907400-62920200	Strong transcription	Brain Germinal Matrix	brain
49	chr1:62907400-62920200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:62907400-62924000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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