Variant report

Variant	rs787556
Chromosome Location	chr18:11865005-11865006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11853567..11855306-chr18:11862502..11865117,2	K562	blood:
2	chr18:11849782..11853357-chr18:11861149..11865205,5	K562	blood:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10468679	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10468682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502413	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11872939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12373424	1.00[ASN][1000 genomes]
rs12457247	1.00[ASN][1000 genomes]
rs12458181	1.00[CHB][hapmap]
rs1424913	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1477484	1.00[CHB][hapmap]
rs1477941	1.00[CHB][hapmap]
rs1559579	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16976625	1.00[ASN][1000 genomes]
rs16976628	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16976639	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16976666	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16976687	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1834267	1.00[ASN][1000 genomes]
rs1941225	1.00[ASN][1000 genomes]
rs28666369	1.00[ASN][1000 genomes]
rs28688137	1.00[ASN][1000 genomes]
rs28696966	1.00[ASN][1000 genomes]
rs56314648	1.00[ASN][1000 genomes]
rs56819096	1.00[ASN][1000 genomes]
rs56861220	1.00[ASN][1000 genomes]
rs57485078	1.00[ASN][1000 genomes]
rs57491632	1.00[ASN][1000 genomes]
rs57878458	1.00[ASN][1000 genomes]
rs57958293	1.00[ASN][1000 genomes]
rs58144032	1.00[ASN][1000 genomes]
rs58248860	1.00[ASN][1000 genomes]
rs58273499	1.00[ASN][1000 genomes]
rs58296571	1.00[ASN][1000 genomes]
rs58471713	1.00[ASN][1000 genomes]
rs58617475	1.00[ASN][1000 genomes]
rs58829911	1.00[ASN][1000 genomes]
rs58991912	1.00[ASN][1000 genomes]
rs59099814	1.00[ASN][1000 genomes]
rs59286339	1.00[ASN][1000 genomes]
rs59322585	1.00[ASN][1000 genomes]
rs59455765	1.00[ASN][1000 genomes]
rs59549445	1.00[ASN][1000 genomes]
rs59624432	1.00[ASN][1000 genomes]
rs59870994	1.00[ASN][1000 genomes]
rs59893403	1.00[ASN][1000 genomes]
rs59920321	1.00[ASN][1000 genomes]
rs60036326	1.00[ASN][1000 genomes]
rs60590666	1.00[ASN][1000 genomes]
rs61076914	1.00[ASN][1000 genomes]
rs6505675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7227117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7227259	1.00[ASN][1000 genomes]
rs73397831	1.00[ASN][1000 genomes]
rs73397852	1.00[ASN][1000 genomes]
rs73397857	1.00[ASN][1000 genomes]
rs73397859	1.00[ASN][1000 genomes]
rs73397874	1.00[ASN][1000 genomes]
rs73399817	1.00[ASN][1000 genomes]
rs73399822	1.00[ASN][1000 genomes]
rs73399842	1.00[ASN][1000 genomes]
rs73401824	1.00[ASN][1000 genomes]
rs73401826	1.00[ASN][1000 genomes]
rs73401832	1.00[ASN][1000 genomes]
rs73401838	1.00[ASN][1000 genomes]
rs73401844	1.00[ASN][1000 genomes]
rs73403525	1.00[ASN][1000 genomes]
rs73403531	1.00[ASN][1000 genomes]
rs73403540	1.00[ASN][1000 genomes]
rs73403565	1.00[ASN][1000 genomes]
rs73403569	1.00[ASN][1000 genomes]
rs73403571	1.00[ASN][1000 genomes]
rs73405491	1.00[ASN][1000 genomes]
rs73405493	1.00[ASN][1000 genomes]
rs73407408	1.00[ASN][1000 genomes]
rs73407416	1.00[ASN][1000 genomes]
rs73407420	1.00[ASN][1000 genomes]
rs73407440	1.00[ASN][1000 genomes]
rs8085783	1.00[ASN][1000 genomes]
rs8089494	1.00[ASN][1000 genomes]
rs8095571	1.00[ASN][1000 genomes]
rs8095793	1.00[ASN][1000 genomes]
rs8098587	1.00[ASN][1000 genomes]
rs8099026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8099153	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9303743	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9303752	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646452	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9675502	1.00[ASN][1000 genomes]
rs9675734	1.00[ASN][1000 genomes]
rs9675736	1.00[ASN][1000 genomes]
rs9675750	1.00[ASN][1000 genomes]
rs9676233	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9676238	1.00[ASN][1000 genomes]
rs9946157	1.00[ASN][1000 genomes]
rs9946455	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948287	1.00[ASN][1000 genomes]
rs9954486	1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960175	1.00[ASN][1000 genomes]
rs9962057	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963594	1.00[ASN][1000 genomes]
rs9967080	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv3316509	chr18:11863852-11868250	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495867	chr18:11863952-11868050	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3495871	chr18:11864402-11867900	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv3495872	chr18:11864764-11867315	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv11594	chr18:11864890-11866873	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3316508	chr18:11864947-11867018	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3495868	chr18:11864973-11867004	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3495869	chr18:11864984-11867024	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3495866	chr18:11865003-11866948	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3316512	chr18:11865005-11866986	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
4	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
8	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
9	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
10	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
11	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
12	chr18:11857800-11866000	Weak transcription	Brain Anterior Caudate	brain
13	chr18:11857800-11867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:11857800-11868400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
16	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:11858000-11868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:11858000-11868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
20	chr18:11858600-11868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
23	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:11859600-11866600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:11860800-11865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:11860800-11868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
31	chr18:11861600-11873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:11861800-11872600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
34	chr18:11862000-11865200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:11862400-11871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
37	chr18:11862600-11872000	Weak transcription	Hela-S3	cervix
38	chr18:11862800-11865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:11864400-11867400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:11864600-11867400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:11865000-11866400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr18:11865000-11870200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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