Variant report

Variant	rs3888795
Chromosome Location	chr18:11863899-11863900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11853567..11855306-chr18:11862502..11865117,2	K562	blood:
2	chr18:11855790..11858853-chr18:11861688..11864675,4	K562	blood:
3	chr18:11856529..11858770-chr18:11861924..11864675,2	K562	blood:
4	chr18:11849782..11853357-chr18:11861149..11865205,5	K562	blood:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000141404	Chromatin interaction
ENSG00000272703	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10468682	1.00[CEU][hapmap]
rs12456112	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1559579	1.00[CEU][hapmap]
rs16976625	1.00[CEU][hapmap]
rs16976628	1.00[CEU][hapmap]
rs16976639	1.00[CEU][hapmap]
rs16976666	1.00[CEU][hapmap]
rs16976687	1.00[CEU][hapmap]
rs2848454	1.00[JPT][hapmap]
rs2855641	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855642	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505675	1.00[CEU][hapmap]
rs9646452	1.00[CEU][hapmap]
rs9676233	1.00[CEU][hapmap]
rs9954486	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:44 , 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	chr18:11856600-11865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
13	chr18:11857800-11866000	Weak transcription	Brain Anterior Caudate	brain
14	chr18:11857800-11867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:11857800-11868400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
17	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:11858000-11865000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:11858000-11868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:11858000-11868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:11858600-11868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
25	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:11859600-11866600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:11860800-11864600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:11860800-11865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:11860800-11868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:11861000-11864400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
35	chr18:11861600-11873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:11861800-11872600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
38	chr18:11862000-11865200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:11862400-11871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
41	chr18:11862600-11872000	Weak transcription	Hela-S3	cervix
42	chr18:11862800-11865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:11863200-11864000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:11863800-11864000	Enhancers	HepG2	liver

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