Variant report

Variant	rs28636749
Chromosome Location	chr1:153546306-153546307
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
2	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
3	chr1:153540517..153543717-chr1:153544324..153546793,4	K562	blood:
4	chr1:153542217..153544092-chr1:153545232..153547357,2	K562	blood:
5	chr1:153545133..153546799-chr1:153630343..153633593,3	MCF-7	breast:
6	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
7	chr1:153542610..153547535-chr1:153612482..153617138,6	MCF-7	breast:
8	chr1:153543619..153547202-chr1:153580802..153586439,10	MCF-7	breast:
9	chr1:153541397..153543216-chr1:153544570..153546443,2	MCF-7	breast:
10	chr1:153543770..153546663-chr1:153587688..153593340,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189171	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000188643	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16835464	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715047	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60069797	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9660988	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9662163	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662917	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9728377	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9729105	1.00[ASN][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153539600-153554000	Weak transcription	Ovary	ovary
2	chr1:153541000-153546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:153541400-153547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:153541600-153550200	Weak transcription	Right Atrium	heart
5	chr1:153541800-153549400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:153544200-153546600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:153544400-153546600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:153544400-153548800	Weak transcription	Placenta	Placenta
9	chr1:153544600-153549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:153545000-153550200	Weak transcription	Esophagus	oesophagus
11	chr1:153545200-153546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:153545200-153550200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:153545400-153546600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:153545400-153550200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:153545600-153546400	Enhancers	Small Intestine	intestine
16	chr1:153545600-153547000	Enhancers	NHEK	skin
17	chr1:153545600-153548400	Weak transcription	HepG2	liver
18	chr1:153545600-153549600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:153545800-153546400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:153545800-153546400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:153545800-153546800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:153545800-153546800	Enhancers	NH-A	brain
23	chr1:153545800-153549600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:153545800-153551400	Weak transcription	Spleen	Spleen
25	chr1:153546000-153546800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:153546000-153549600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:153546000-153549600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:153546000-153549800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:153546000-153549800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:153546000-153549800	Weak transcription	A549	lung
31	chr1:153546000-153556600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:153546200-153546600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:153546200-153546800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:153546200-153548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:153546200-153549400	Weak transcription	HSMMtube	muscle
36	chr1:153546200-153549600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:153546200-153549600	Weak transcription	Hela-S3	cervix
38	chr1:153546200-153549800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:153546200-153549800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:153546200-153549800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:153546200-153549800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:153546200-153549800	Weak transcription	HSMM	muscle
43	chr1:153546200-153549800	Weak transcription	NHDF-Ad	bronchial
44	chr1:153546200-153549800	Weak transcription	NHLF	lung
45	chr1:153546200-153549800	Weak transcription	Osteobl	bone
46	chr1:153546200-153550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:153546200-153550200	Weak transcription	HMEC	breast
48	chr1:153546200-153550400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:153546200-153550400	Weak transcription	Adipose Nuclei	Adipose

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