Variant report

Variant	rs7233770
Chromosome Location	chr18:8830096-8830097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8811800..8814027-chr18:8828747..8831141,2	K562	blood:

Variant related genes	Relation type
ENSG00000168502	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10432143	0.88[ASN][1000 genomes]
rs11081410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11665124	1.00[GIH][hapmap]
rs12956170	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12956773	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs12957034	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs12962890	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs1564484	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs16954398	0.81[ASN][1000 genomes]
rs2170297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34740257	0.96[ASN][1000 genomes]
rs35950206	0.86[ASN][1000 genomes]
rs4798691	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs595802	0.90[CHB][hapmap]
rs71362044	0.86[ASN][1000 genomes]
rs7240816	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8801200-8834800	Weak transcription	Esophagus	oesophagus
2	chr18:8807800-8835200	Weak transcription	Right Ventricle	heart
3	chr18:8817000-8830400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:8817200-8834800	Weak transcription	Psoas Muscle	Psoas
5	chr18:8817800-8830800	Strong transcription	Fetal Stomach	stomach
6	chr18:8821400-8831600	Weak transcription	Aorta	Aorta
7	chr18:8821400-8834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:8823200-8831800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8825400-8831600	Weak transcription	Ovary	ovary
12	chr18:8825600-8834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:8825800-8830400	Weak transcription	HMEC	breast
15	chr18:8825800-8833200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:8826000-8833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
19	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
20	chr18:8826400-8830400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:8826400-8832200	Weak transcription	Fetal Intestine Small	intestine
22	chr18:8826400-8834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:8826800-8835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:8827000-8831800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:8827200-8830400	Weak transcription	NHEK	skin
27	chr18:8827200-8834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:8827400-8830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:8827400-8832600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:8827400-8834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:8827400-8835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:8827600-8831600	Weak transcription	NH-A	brain
33	chr18:8827600-8832800	Weak transcription	HSMMtube	muscle
34	chr18:8827600-8834200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:8827600-8834600	Weak transcription	Osteobl	bone
36	chr18:8827600-8834800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr18:8827600-8835200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
39	chr18:8827800-8831800	Weak transcription	Fetal Brain Female	brain
40	chr18:8828000-8830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:8828000-8834600	Weak transcription	HSMM	muscle
42	chr18:8828400-8832200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:8828800-8830200	Strong transcription	NHLF	lung
45	chr18:8828800-8830800	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:8829200-8830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr18:8829200-8835000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
49	chr18:8829200-8839000	Weak transcription	Gastric	stomach
50	chr18:8829400-8830400	Weak transcription	Lung	lung

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