Variant report

Variant	rs336275
Chromosome Location	chr18:29622687-29622688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10438934	0.84[ASN][1000 genomes]
rs11661718	0.81[ASN][1000 genomes]
rs12455805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12455807	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs168058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1984583	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432697	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433377	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901365	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912538	0.81[ASN][1000 genomes]
rs336273	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs336274	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs336276	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336277	0.81[JPT][hapmap]
rs417944	0.91[ASN][1000 genomes]
rs62093943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs641777	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7228224	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72934872	0.80[ASN][1000 genomes]
rs73413971	0.81[ASN][1000 genomes]
rs8089092	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9947278	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]

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	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
3	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
8	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
9	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:29613000-29627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:29615800-29628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
15	chr18:29616200-29628800	Weak transcription	Gastric	stomach
16	chr18:29617200-29629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:29618000-29628800	Weak transcription	Left Ventricle	heart
18	chr18:29618000-29629000	Weak transcription	Lung	lung
19	chr18:29618200-29624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:29618200-29624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:29618600-29628200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:29618600-29628600	Weak transcription	Spleen	Spleen
25	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:29619400-29624400	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:29619400-29624600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:29619400-29625600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
30	chr18:29619800-29622800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:29620000-29623400	Enhancers	Primary B cells from peripheral blood	blood
32	chr18:29620000-29624600	Weak transcription	Fetal Intestine Small	intestine
33	chr18:29620000-29625800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:29620400-29625000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr18:29620600-29623400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr18:29620600-29626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:29621000-29623000	Genic enhancers	Adipose Nuclei	Adipose
38	chr18:29621000-29623600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr18:29621200-29622800	Enhancers	Dnd41	blood
40	chr18:29621200-29623000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr18:29621200-29624400	Weak transcription	Fetal Intestine Large	intestine
42	chr18:29621200-29628800	Weak transcription	Thymus	Thymus
43	chr18:29621400-29623600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr18:29621400-29628400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr18:29621400-29628600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:29621400-29628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:29621400-29628600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr18:29621400-29628800	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:29621400-29628800	Weak transcription	Brain Substantia Nigra	brain
50	chr18:29621600-29623200	Genic enhancers	Primary T cells fromperipheralblood	blood

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