Variant report

Variant	rs11118483
Chromosome Location	chr1:220177482-220177483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220177307..220179895-chr1:220184539..220186379,2	K562	blood:
2	chr1:220177032..220178609-chr1:220180305..220182071,2	K562	blood:
3	chr1:220176489..220178483-chr1:220194555..220197465,2	MCF-7	breast:
4	chr1:220150167..220154916-chr1:220176228..220180180,4	K562	blood:

Variant related genes	Relation type
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10495143	0.84[AMR][1000 genomes]
rs10779393	0.84[AMR][1000 genomes]
rs10863523	0.84[AMR][1000 genomes]
rs10863525	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863526	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118490	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12022181	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046562	0.83[AMR][1000 genomes]
rs12057468	0.82[AMR][1000 genomes]
rs12068478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767658	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57884703	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61830370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61830400	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61830404	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6674466	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6686451	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539497	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
3	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
4	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:220166000-220189200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:220166200-220178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:220166200-220178200	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:220166200-220184400	Strong transcription	Fetal Thymus	thymus
12	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:220166400-220199800	Strong transcription	K562	blood
17	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:220166600-220180800	Strong transcription	Placenta	Placenta
21	chr1:220166600-220185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:220166600-220188400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:220166800-220199000	Strong transcription	Dnd41	blood
25	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:220167000-220181200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:220167600-220185600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
30	chr1:220168200-220185600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:220168400-220180600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:220168600-220179200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:220168800-220179600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:220168800-220179600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:220168800-220184400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:220169000-220184600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:220170600-220186600	Weak transcription	Fetal Heart	heart
41	chr1:220171800-220177800	Strong transcription	Fetal Intestine Small	intestine
42	chr1:220171800-220179600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:220172000-220178000	Strong transcription	Brain Germinal Matrix	brain
44	chr1:220172000-220183800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:220172200-220180800	Strong transcription	Colon Smooth Muscle	Colon
46	chr1:220172400-220179800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:220172600-220178000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:220172600-220178000	Strong transcription	HSMMtube	muscle
49	chr1:220172600-220178200	Strong transcription	GM12878-XiMat	blood
50	chr1:220172600-220179600	Strong transcription	Brain Cingulate Gyrus	brain

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