Variant report

Variant	rs1530368
Chromosome Location	chr18:12038313-12038314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11992964..11995381-chr18:12038056..12040567,2	MCF-7	breast:
2	chr18:11937557..11938334-chr18:12038177..12039385,5	K562	blood:

Variant related genes	Relation type
ENSG00000266955	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036903	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1036904	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1250171	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1662607	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662612	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662613	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1964436	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075826	0.93[ASN][1000 genomes]
rs2851915	0.91[ASN][1000 genomes]
rs2851916	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2851928	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2851930	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56076781	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs583965	0.91[ASN][1000 genomes]
rs594235	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs596081	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs596142	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597072	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597094	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597965	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598005	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609104	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609588	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs613993	0.92[ASN][1000 genomes]
rs627448	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs627492	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs640088	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655840	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656193	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs674758	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs687869	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12017600-12038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr18:12024200-12038400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:12027400-12038400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12028800-12038400	Weak transcription	Right Atrium	heart
5	chr18:12030600-12038400	Weak transcription	Lung	lung
6	chr18:12031400-12038800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:12031800-12038400	Weak transcription	Aorta	Aorta
8	chr18:12032400-12038400	Weak transcription	Fetal Lung	lung
9	chr18:12032600-12038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:12033600-12038400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:12033800-12038600	Weak transcription	Hela-S3	cervix
12	chr18:12034000-12038400	Weak transcription	NHDF-Ad	bronchial
13	chr18:12034800-12038600	Enhancers	Pancreas	Pancrea
14	chr18:12035000-12038400	Weak transcription	GM12878-XiMat	blood
15	chr18:12035000-12038600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:12035200-12038600	Weak transcription	Liver	Liver
17	chr18:12036400-12038600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:12036400-12039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:12038000-12038400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr18:12038000-12038400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:12038000-12038400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr18:12038000-12038400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr18:12038000-12038400	Enhancers	Brain Cingulate Gyrus	brain
24	chr18:12038000-12038400	Enhancers	Colon Smooth Muscle	Colon
25	chr18:12038000-12038400	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr18:12038000-12038400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr18:12038000-12038400	Bivalent Enhancer	Placenta	Placenta
28	chr18:12038000-12038400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr18:12038000-12038400	Enhancers	Right Ventricle	heart
30	chr18:12038000-12038400	Enhancers	A549	lung
31	chr18:12038000-12038400	Enhancers	HMEC	breast
32	chr18:12038000-12038600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr18:12038000-12038800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr18:12038200-12038400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
35	chr18:12038200-12038400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr18:12038200-12038400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr18:12038200-12038400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr18:12038200-12038400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr18:12038200-12038400	Enhancers	Primary hematopoietic stem cells	blood
40	chr18:12038200-12038400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr18:12038200-12038400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:12038200-12038400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:12038200-12038400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:12038200-12038400	Enhancers	Adipose Nuclei	Adipose
45	chr18:12038200-12038400	Active TSS	Brain Germinal Matrix	brain
46	chr18:12038200-12038400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:12038200-12038400	Enhancers	Brain Substantia Nigra	brain
48	chr18:12038200-12038400	Active TSS	Duodenum Mucosa	Duodenum
49	chr18:12038200-12038400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:12038200-12038400	Bivalent Enhancer	Fetal Intestine Small	intestine

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