Variant report

Variant	rs11873826
Chromosome Location	chr18:13033307-13033308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12988713..12992401-chr18:13031948..13034637,3	MCF-7	breast:
2	chr18:13032939..13034812-chr18:13035452..13038047,2	MCF-7	breast:
3	chr18:13026928..13029463-chr18:13032785..13034705,2	K562	blood:
4	chr18:13032734..13035826-chr18:13036723..13041080,5	K562	blood:
5	chr18:12988720..12991323-chr18:13032484..13035144,2	K562	blood:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11080621	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11080622	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872263	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12232629	0.86[EUR][1000 genomes]
rs12605081	0.85[YRI][hapmap]
rs16940054	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940077	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1786285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28880030	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35637816	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55637272	0.82[ASN][1000 genomes]
rs56163906	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57072282	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575125	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs57607448	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57770092	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58764311	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59385500	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59572954	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60369117	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61155546	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610540	0.87[EUR][1000 genomes]
rs6505778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7228108	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7231935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7236159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7239379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7240309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7243977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72874177	0.89[EUR][1000 genomes]
rs72874185	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72875863	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72875879	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72877625	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8086911	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098299	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8182426	0.89[EUR][1000 genomes]
rs9303778	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs977104	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9953855	0.86[ASN][1000 genomes]
rs9958439	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9959522	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9965066	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:12998400-13041600	Strong transcription	Dnd41	blood
3	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
4	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr18:13011400-13034000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:13011400-13038800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr18:13011800-13033800	Strong transcription	Primary B cells from cord blood	blood
14	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
15	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
17	chr18:13015400-13036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
19	chr18:13016400-13036200	Weak transcription	Gastric	stomach
20	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
21	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:13017600-13042200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:13018400-13038400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
25	chr18:13020400-13033800	Strong transcription	GM12878-XiMat	blood
26	chr18:13020400-13034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:13023200-13034400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr18:13023800-13033800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:13023800-13037200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:13024000-13033400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:13024000-13038600	Strong transcription	Fetal Intestine Large	intestine
32	chr18:13024000-13039400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:13024000-13042400	Weak transcription	Fetal Brain Female	brain
34	chr18:13024200-13041800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr18:13024200-13042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:13024800-13039800	Strong transcription	Fetal Muscle Leg	muscle
37	chr18:13025000-13033600	Strong transcription	HepG2	liver
38	chr18:13025000-13034400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr18:13025200-13033600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:13025200-13033600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr18:13025200-13033800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:13025200-13033800	Strong transcription	NHDF-Ad	bronchial
43	chr18:13025200-13034000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr18:13025400-13033800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr18:13025400-13033800	Strong transcription	K562	blood
46	chr18:13025400-13034400	Strong transcription	Liver	Liver
47	chr18:13026200-13033600	Strong transcription	Hela-S3	cervix
48	chr18:13026200-13033800	Strong transcription	Adipose Nuclei	Adipose
49	chr18:13026200-13035600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr18:13026200-13039200	Strong transcription	Primary T cells from cord blood	blood

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