Variant report

Variant	rs28730676
Chromosome Location	chr1:9782261-9782262
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9780124..9783096-chr1:9792051..9793928,2	K562	blood:
2	chr1:9647704..9650269-chr1:9779958..9782817,2	K562	blood:
3	chr1:9780672..9783300-chr1:9789920..9792123,3	K562	blood:
4	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:
5	chr1:9782219..9784206-chr1:9788877..9790888,2	MCF-7	breast:
6	chr1:9689400..9690981-chr1:9780528..9782440,2	K562	blood:
7	chr1:9776188..9781647-chr1:9782146..9786494,11	K562	blood:
8	chr1:9778823..9786788-chr1:9787182..9791476,8	K562	blood:
9	chr1:9761530..9763736-chr1:9780287..9782270,2	K562	blood:
10	chr1:9780963..9783653-chr1:9882559..9884595,2	K562	blood:
11	chr1:9781386..9784652-chr1:9924402..9927637,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction
ENSG00000188807	Chromatin interaction
ENSG00000171608	Chromatin interaction
ENSG00000231789	Chromatin interaction

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

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

rs_ID	r²[population]
rs1057483	1.00[AMR][1000 genomes]
rs11805962	1.00[AMR][1000 genomes]
rs11807364	1.00[AMR][1000 genomes]
rs28730671	0.96[ASN][1000 genomes]
rs28730674	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28730677	0.81[ASN][1000 genomes]
rs4486456	0.88[ASN][1000 genomes]
rs72633870	0.96[ASN][1000 genomes]
rs72871215	0.96[ASN][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9763200-9782400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:9768600-9787400	Weak transcription	Left Ventricle	heart
4	chr1:9769200-9783600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:9770800-9782600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:9771600-9782600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:9772600-9788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:9774600-9783400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:9774800-9782600	Strong transcription	Brain Germinal Matrix	brain
10	chr1:9775600-9783400	Strong transcription	Fetal Brain Female	brain
11	chr1:9777800-9790200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:9777800-9790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:9778200-9782800	Weak transcription	Liver	Liver
14	chr1:9778200-9783400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:9778200-9783400	Weak transcription	Fetal Lung	lung
16	chr1:9778400-9782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:9778400-9782600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:9778400-9783000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:9778400-9783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:9778400-9793400	Weak transcription	Fetal Kidney	kidney
21	chr1:9778600-9782600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:9778600-9785200	Genic enhancers	Primary T cells from cord blood	blood
23	chr1:9778600-9788400	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr1:9778600-9790600	Weak transcription	Small Intestine	intestine
25	chr1:9778800-9785400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:9779000-9782400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:9779000-9785400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:9779000-9788600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:9779200-9783000	Strong transcription	Adipose Nuclei	Adipose
30	chr1:9779200-9783000	Weak transcription	NHDF-Ad	bronchial
31	chr1:9779200-9786600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:9779200-9786800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:9779400-9782400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:9779400-9782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:9779400-9782800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:9779400-9783000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:9779400-9785200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:9779600-9782600	Strong transcription	Esophagus	oesophagus
39	chr1:9779800-9782800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:9779800-9782800	Strong transcription	Aorta	Aorta
41	chr1:9779800-9783000	Strong transcription	Right Ventricle	heart
42	chr1:9779800-9783200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:9779800-9783200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:9779800-9783200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:9779800-9785200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr1:9780000-9782600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:9780000-9782600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:9780000-9782600	Strong transcription	NHLF	lung
49	chr1:9780000-9783000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:9780000-9784800	Strong transcription	Monocytes-CD14+_RO01746	blood

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