Variant report

Variant	rs4239304
Chromosome Location	chr18:11985662-11985663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11981504..11983527-chr18:11985199..11986981,3	MCF-7	breast:
2	chr18:11979366..11983605-chr18:11984399..11987435,4	MCF-7	breast:
3	chr18:11906857..11909388-chr18:11984502..11986604,2	K562	blood:

Variant related genes	Relation type
ENSG00000273141	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16976887	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475846	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499558	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509217	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548932	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57967783	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58556096	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59796048	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59889312	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604420	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs61383190	0.90[ASN][1000 genomes]
rs6505700	0.94[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653073	0.85[ASN][1000 genomes]
rs653074	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs663591	0.89[CHB][hapmap];0.90[ASN][1000 genomes]
rs67450563	0.85[ASN][1000 genomes]
rs67932171	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230346	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240032	0.89[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7244678	0.89[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs72871698	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871700	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871702	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873510	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873549	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7407928	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7407929	0.86[EUR][1000 genomes]
rs7506045	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095694	0.88[CHB][hapmap];0.90[ASN][1000 genomes]
rs9973177	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
2	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
4	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
5	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
6	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:11982600-11987800	Weak transcription	NHLF	lung
8	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
9	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
10	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
11	chr18:11983400-11985800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:11983400-11986200	Weak transcription	Ovary	ovary
13	chr18:11983400-11987400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:11983400-11989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:11983400-11989200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr18:11983400-11989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:11983400-11994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:11983600-11989400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:11983800-11986600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:11984000-11986800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:11984000-11989000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:11984200-11985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:11984200-11985800	Weak transcription	Liver	Liver
24	chr18:11984200-11987000	Weak transcription	Adipose Nuclei	Adipose
25	chr18:11984200-11987400	Weak transcription	Fetal Lung	lung
26	chr18:11984200-11988200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr18:11984200-11988400	Weak transcription	Fetal Intestine Large	intestine
28	chr18:11984200-11989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:11984200-11993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:11984200-11994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:11984400-11985800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:11984400-11985800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr18:11984400-11985800	Weak transcription	Placenta	Placenta
34	chr18:11984400-11985800	Weak transcription	Spleen	Spleen
35	chr18:11984400-11986200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:11984400-11986800	Weak transcription	A549	lung
37	chr18:11984400-11987000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:11984400-11987000	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:11984400-11987600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr18:11984400-11988400	Weak transcription	Esophagus	oesophagus
41	chr18:11984400-11988800	Weak transcription	Colonic Mucosa	Colon
42	chr18:11984400-11989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:11984400-11989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:11984400-11989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr18:11984400-11989600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:11984400-11990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:11984400-11990400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr18:11984400-11993400	Weak transcription	Lung	lung
49	chr18:11984400-11994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:11984400-11994200	Weak transcription	NHEK	skin

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