Variant report

Variant	rs9947278
Chromosome Location	chr18:29617255-29617256
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	chr18:29616707..29618971-chr18:29620186..29622381,2	K562	blood:

Variant related genes	Relation type
ENSG00000101695	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10438934	0.83[ASN][1000 genomes]
rs12455805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12455807	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap]
rs1984583	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432697	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433377	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901365	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336273	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs336274	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs336275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336276	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336277	0.81[JPT][hapmap]
rs417944	0.90[ASN][1000 genomes]
rs62093943	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs641777	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7228224	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73413971	0.80[ASN][1000 genomes]
rs8089092	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
4	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:29602800-29617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:29602800-29620600	Weak transcription	Brain Angular Gyrus	brain
9	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:29606600-29617800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
12	chr18:29609800-29618400	Weak transcription	Brain Hippocampus Middle	brain
13	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
14	chr18:29610400-29619600	Weak transcription	Ovary	ovary
15	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:29612200-29617600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:29613000-29627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:29614000-29620800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:29614400-29617400	Weak transcription	Fetal Intestine Small	intestine
21	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:29615600-29620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:29615600-29620600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:29615800-29628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
26	chr18:29616200-29628800	Weak transcription	Gastric	stomach
27	chr18:29616400-29617400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr18:29616400-29617600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:29616600-29618400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:29616800-29617600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:29616800-29617800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr18:29616800-29618400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:29616800-29618600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr18:29616800-29618800	Strong transcription	Primary T cells from cord blood	blood
35	chr18:29616800-29619000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr18:29616800-29619000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:29616800-29619000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr18:29616800-29619400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:29616800-29619400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr18:29616800-29619400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr18:29616800-29619800	Strong transcription	Primary B cells from cord blood	blood
42	chr18:29616800-29620000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:29616800-29620200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr18:29616800-29620400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:29616800-29620400	Strong transcription	Adipose Nuclei	Adipose
46	chr18:29617000-29617400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr18:29617000-29617800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:29617000-29617800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr18:29617000-29618000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:29617000-29618000	Strong transcription	Left Ventricle	heart

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