Variant report

Variant	rs60563145
Chromosome Location	chr1:211746959-211746960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211692734..211695713-chr1:211744143..211747035,2	MCF-7	breast:
2	chr1:211729557..211732599-chr1:211743450..211747456,3	K562	blood:
3	chr1:211745327..211748451-chr1:211846943..211849410,3	K562	blood:
4	chr1:211431710..211433363-chr1:211744568..211747446,2	K562	blood:
5	chr1:211697121..211699374-chr1:211746833..211748555,2	K562	blood:
6	chr1:211738614..211743299-chr1:211744203..211747378,6	K562	blood:
7	chr1:211746810..211749692-chr1:211783974..211785917,2	MCF-7	breast:
8	chr1:211431188..211433363-chr1:211744568..211747070,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117650	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17017772	0.90[AMR][1000 genomes]
rs56814273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211734400-211748000	Weak transcription	Placenta	Placenta
2	chr1:211738800-211748200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:211741400-211747400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:211741400-211747400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:211741600-211747400	Weak transcription	K562	blood
6	chr1:211742200-211747000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:211742200-211748800	Weak transcription	HSMMtube	muscle
8	chr1:211742400-211748600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:211743000-211747200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:211743200-211748400	Weak transcription	Fetal Lung	lung
11	chr1:211743800-211747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:211743800-211748000	Weak transcription	NHEK	skin
13	chr1:211743800-211748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:211743800-211748800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:211744000-211748000	Weak transcription	Primary B cells from cord blood	blood
16	chr1:211744200-211747400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:211744400-211748600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:211744600-211747000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:211744600-211748400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:211744600-211748400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:211744600-211748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:211744600-211748600	Weak transcription	Primary T cells from cord blood	blood
23	chr1:211744600-211749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:211744800-211747000	Strong transcription	Fetal Intestine Large	intestine
25	chr1:211744800-211747200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:211744800-211747400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:211744800-211748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:211745000-211747000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:211745000-211747600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:211745000-211749000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:211745000-211749600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:211745200-211748600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:211745400-211747400	Enhancers	Fetal Intestine Small	intestine
34	chr1:211745400-211747400	Strong transcription	Osteobl	bone
35	chr1:211745400-211747600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:211745400-211748400	Strong transcription	NHDF-Ad	bronchial
37	chr1:211745400-211748600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:211745400-211748600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:211745800-211747400	Weak transcription	Fetal Heart	heart
40	chr1:211745800-211748000	Genic enhancers	HUVEC	blood vessel
41	chr1:211745800-211748200	Strong transcription	HSMM	muscle
42	chr1:211745800-211748600	Genic enhancers	Hela-S3	cervix
43	chr1:211745800-211749800	Weak transcription	Colonic Mucosa	Colon
44	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:211746000-211747000	Weak transcription	Dnd41	blood
46	chr1:211746000-211747600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:211746000-211747600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:211746000-211747600	Weak transcription	Fetal Thymus	thymus
49	chr1:211746000-211748600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:211746000-211748600	Enhancers	HepG2	liver

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