Variant report

Variant	rs11082641
Chromosome Location	chr18:45442677-45442678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45436938..45439743-chr18:45441401..45443644,2	MCF-7	breast:
2	chr18:45439344..45444269-chr18:45455068..45458587,5	K562	blood:
3	chr18:45440386..45443120-chr18:45446937..45449451,2	MCF-7	breast:
4	chr18:45442040..45444827-chr18:45449244..45451439,2	K562	blood:
5	chr18:45439535..45445304-chr18:45455068..45459362,9	K562	blood:
6	chr18:45441870..45444292-chr18:45451454..45453055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10445485	0.82[AMR][1000 genomes]
rs10502890	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853560	0.86[CEU][hapmap]
rs11082638	0.89[CEU][hapmap]
rs11082639	0.96[CEU][hapmap]
rs12457664	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12458238	0.90[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12968107	0.86[CEU][hapmap]
rs12968493	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12969725	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539872	0.89[CEU][hapmap]
rs1573362	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573363	0.86[CEU][hapmap]
rs1613672	0.83[CEU][hapmap]
rs1631576	0.85[CEU][hapmap]
rs17741998	0.86[CEU][hapmap]
rs1787176	0.83[CEU][hapmap]
rs1787185	0.80[CEU][hapmap]
rs1787186	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs1787193	0.83[CEU][hapmap]
rs1787194	0.83[CEU][hapmap]
rs1787198	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1787199	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1792655	0.83[CEU][hapmap]
rs1792658	0.83[YRI][hapmap]
rs1792666	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs1792667	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792668	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792669	0.86[CEU][hapmap]
rs1792670	0.89[CEU][hapmap]
rs1792671	0.83[CEU][hapmap]
rs1792674	0.89[CEU][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs1792675	0.83[CEU][hapmap]
rs1792679	0.80[CEU][hapmap]
rs1792682	0.80[CEU][hapmap]
rs1792684	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs1792686	0.85[CEU][hapmap];0.95[YRI][hapmap]
rs1792687	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792689	1.00[YRI][hapmap]
rs1942158	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1981	0.82[CEU][hapmap]
rs2000708	0.93[CEU][hapmap]
rs2000709	0.89[CEU][hapmap]
rs2012555	0.89[CEU][hapmap];0.83[YRI][hapmap]
rs2096933	0.93[CEU][hapmap]
rs3813068	0.85[CEU][hapmap]
rs4940102	0.90[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs4940109	0.92[CEU][hapmap]
rs4940110	0.93[CEU][hapmap]
rs57620563	0.89[AFR][1000 genomes]
rs6507790	0.96[CEU][hapmap]
rs6507791	0.86[CEU][hapmap]
rs7228393	0.96[CEU][hapmap]
rs7231538	0.86[CEU][hapmap]
rs7233129	0.86[CEU][hapmap]
rs7236177	0.89[CEU][hapmap]
rs729112	0.89[CEU][hapmap]
rs747952	0.86[CEU][hapmap]
rs747953	0.86[CEU][hapmap]
rs765213	0.89[CEU][hapmap]
rs8095519	0.92[CEU][hapmap]
rs8097580	0.88[CEU][hapmap]
rs8097912	0.86[CEU][hapmap]
rs8099127	0.86[CEU][hapmap]
rs948602	0.90[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs948603	0.86[CEU][hapmap]
rs948604	0.92[CEU][hapmap]
rs9946556	0.83[CEU][hapmap]
rs9955626	0.86[CEU][hapmap]
rs9966964	0.85[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:45431000-45442800	Weak transcription	Lung	lung
3	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
4	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
5	chr18:45433400-45442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:45433400-45442800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:45433400-45446400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:45433400-45452200	Weak transcription	Fetal Lung	lung
9	chr18:45433600-45446000	Weak transcription	Placenta	Placenta
10	chr18:45434000-45446600	Weak transcription	Primary B cells from cord blood	blood
11	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr18:45435400-45452400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:45435600-45444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:45437200-45444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:45437600-45442800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:45438000-45444200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr18:45438400-45444800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr18:45438600-45454600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr18:45438800-45446000	Weak transcription	Dnd41	blood
21	chr18:45438800-45453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:45439000-45442800	Weak transcription	Ovary	ovary
23	chr18:45439000-45443400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:45439000-45443800	Enhancers	K562	blood
25	chr18:45439000-45444000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:45439000-45444400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:45439000-45444600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:45439000-45444800	Weak transcription	Small Intestine	intestine
29	chr18:45439000-45445000	Enhancers	A549	lung
30	chr18:45439000-45445200	Weak transcription	Thymus	Thymus
31	chr18:45439000-45452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:45439000-45452800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:45439000-45452800	Weak transcription	Aorta	Aorta
34	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
35	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
36	chr18:45439200-45444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:45439200-45444600	Weak transcription	Fetal Thymus	thymus
38	chr18:45439200-45446000	Weak transcription	Fetal Heart	heart
39	chr18:45439200-45453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr18:45439200-45453400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr18:45439400-45442800	Weak transcription	Psoas Muscle	Psoas
42	chr18:45439400-45446000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:45439400-45447200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr18:45439600-45442800	Weak transcription	Left Ventricle	heart
45	chr18:45439600-45444200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:45439600-45444400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:45439600-45444400	Weak transcription	Right Atrium	heart
48	chr18:45439600-45445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:45439600-45445600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr18:45439600-45445800	Weak transcription	Gastric	stomach

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