Variant report

Variant	rs57967783
Chromosome Location	chr18:11984242-11984243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11951098..11953868-chr18:11983215..11985135,2	K562	blood:
2	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
3	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11080536	0.83[EUR][1000 genomes]
rs16976887	0.98[ASN][1000 genomes]
rs28475846	0.98[ASN][1000 genomes]
rs28499558	0.98[ASN][1000 genomes]
rs28509217	0.98[ASN][1000 genomes]
rs28548932	0.98[ASN][1000 genomes]
rs4239304	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4797606	0.81[EUR][1000 genomes]
rs56364728	0.98[ASN][1000 genomes]
rs58556096	0.95[ASN][1000 genomes]
rs59796048	0.98[ASN][1000 genomes]
rs59889312	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs604420	0.89[ASN][1000 genomes]
rs61383190	0.89[ASN][1000 genomes]
rs6505700	0.98[ASN][1000 genomes]
rs6505701	0.98[ASN][1000 genomes]
rs653073	0.83[ASN][1000 genomes]
rs663591	0.89[ASN][1000 genomes]
rs67450563	0.85[ASN][1000 genomes]
rs67932171	0.98[ASN][1000 genomes]
rs7230346	0.98[ASN][1000 genomes]
rs7240032	0.88[ASN][1000 genomes]
rs7244678	0.88[ASN][1000 genomes]
rs72871691	0.85[EUR][1000 genomes]
rs72871698	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72871700	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72871702	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72873509	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72873510	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72873549	0.88[ASN][1000 genomes]
rs7407928	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7506045	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8095694	0.89[ASN][1000 genomes]
rs9676057	0.81[EUR][1000 genomes]
rs9973177	0.98[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
3	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
5	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
12	chr18:11982600-11984400	Enhancers	Gastric	stomach
13	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
15	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
16	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:11982600-11987800	Weak transcription	NHLF	lung
18	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
19	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
20	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
21	chr18:11982800-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:11982800-11984600	Flanking Active TSS	Hela-S3	cervix
23	chr18:11983000-11984600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:11983200-11984600	Enhancers	Stomach Mucosa	stomach
25	chr18:11983200-11984800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:11983400-11984400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr18:11983400-11984400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:11983400-11984400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:11983400-11984400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:11983400-11984400	Enhancers	Fetal Muscle Trunk	muscle
31	chr18:11983400-11984400	Enhancers	Psoas Muscle	Psoas
32	chr18:11983400-11984400	Enhancers	GM12878-XiMat	blood
33	chr18:11983400-11984600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr18:11983400-11985600	Weak transcription	K562	blood
35	chr18:11983400-11985800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:11983400-11986200	Weak transcription	Ovary	ovary
37	chr18:11983400-11987400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:11983400-11989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:11983400-11989200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr18:11983400-11989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:11983400-11994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:11983600-11984400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr18:11983600-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:11983600-11984400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr18:11983600-11984400	Enhancers	Spleen	Spleen
46	chr18:11983600-11989400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:11983800-11984400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr18:11983800-11984400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr18:11983800-11984400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr18:11983800-11984400	Enhancers	Lung	lung

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