Variant report

Variant	rs12418111
Chromosome Location	chr11:16917430-16917431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16915696..16917926-chr11:16944462..16946191,2	MCF-7	breast:
2	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10741713	0.89[JPT][hapmap]
rs10766360	0.88[JPT][hapmap]
rs11024074	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11024087	0.87[JPT][hapmap]
rs1638456	0.84[ASN][1000 genomes]
rs1638457	0.86[ASN][1000 genomes]
rs16933675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933680	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs16933682	0.93[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs16933683	0.89[JPT][hapmap]
rs16933684	0.88[JPT][hapmap]
rs177544	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs177546	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs177551	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs177554	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs177561	0.89[JPT][hapmap]
rs177562	0.88[JPT][hapmap]
rs177563	0.88[JPT][hapmap]
rs2057788	0.89[JPT][hapmap]
rs2190752	0.89[JPT][hapmap]
rs2883150	0.88[JPT][hapmap]
rs35005405	0.81[ASN][1000 genomes]
rs35109048	0.83[ASN][1000 genomes]
rs369457	0.88[JPT][hapmap]
rs371905	0.88[JPT][hapmap]
rs378863	0.86[ASN][1000 genomes]
rs381815	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs387849	0.89[JPT][hapmap]
rs388968	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs389967	0.82[JPT][hapmap]
rs390974	0.88[JPT][hapmap]
rs391332	0.83[ASN][1000 genomes]
rs393633	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs397343	0.89[JPT][hapmap]
rs397373	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs400085	0.88[JPT][hapmap]
rs400458	0.89[JPT][hapmap]
rs401820	0.88[JPT][hapmap]
rs402982	0.84[JPT][hapmap]
rs406890	0.89[JPT][hapmap]
rs407354	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs409354	1.00[CHB][hapmap]
rs413858	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs414219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs414992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs416258	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs417406	0.82[JPT][hapmap]
rs420975	0.88[JPT][hapmap]
rs422272	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425325	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs427429	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs428840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs428933	0.89[JPT][hapmap]
rs430211	0.89[JPT][hapmap]
rs431208	0.89[JPT][hapmap]
rs432046	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs433212	0.88[JPT][hapmap]
rs433225	0.88[JPT][hapmap]
rs434761	0.89[JPT][hapmap]
rs434899	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs435206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs440212	0.88[JPT][hapmap]
rs445146	0.88[JPT][hapmap]
rs445205	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs445431	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs446518	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs448671	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs450828	0.88[JPT][hapmap]
rs452414	0.89[JPT][hapmap]
rs452745	0.87[JPT][hapmap]
rs454869	0.89[JPT][hapmap]
rs4756875	0.88[JPT][hapmap]
rs4756876	0.88[JPT][hapmap]
rs4757445	0.83[ASN][1000 genomes]
rs4757449	0.88[JPT][hapmap]
rs4757451	0.89[JPT][hapmap]
rs4757452	0.87[JPT][hapmap]
rs4757454	0.88[JPT][hapmap]
rs4757456	0.88[JPT][hapmap]
rs4757457	0.88[JPT][hapmap]
rs58542530	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59828007	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882035	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882036	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882037	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882038	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486326	0.89[JPT][hapmap]
rs7111470	0.89[JPT][hapmap]
rs7396552	0.83[JPT][hapmap]
rs7481080	0.83[JPT][hapmap]
rs758402	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7924696	0.89[JPT][hapmap]
rs7926335	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7926392	0.90[YRI][hapmap]
rs7931046	0.82[YRI][hapmap]
rs7939987	0.89[JPT][hapmap]
rs7947282	1.00[YRI][hapmap]
rs7947562	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7688	chr11:16912759-16939804	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757425	chr11:16915291-16934130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759805	chr11:16915291-16934130	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1038987	chr11:16916438-16927022	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2754709	chr11:16917219-16927022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16910000-16917800	Weak transcription	Lung	lung
2	chr11:16912200-16923600	Weak transcription	A549	lung
3	chr11:16912400-16919400	Weak transcription	Liver	Liver
4	chr11:16913000-16918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:16913800-16921800	Enhancers	Fetal Heart	heart
6	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
7	chr11:16914400-16919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:16914600-16921200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:16915400-16918200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:16915400-16918400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:16915800-16917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:16915800-16918000	Weak transcription	Right Ventricle	heart
13	chr11:16915800-16919000	Weak transcription	Right Atrium	heart
14	chr11:16915800-16921400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:16915800-16921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:16915800-16922800	Weak transcription	HMEC	breast
17	chr11:16916000-16917800	Weak transcription	Stomach Mucosa	stomach
18	chr11:16916000-16918400	Weak transcription	Pancreas	Pancrea
19	chr11:16916000-16918800	Weak transcription	Adipose Nuclei	Adipose
20	chr11:16916000-16919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:16916000-16923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:16916000-16924400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
24	chr11:16916400-16917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:16916600-16918200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:16916800-16917600	Enhancers	Brain Anterior Caudate	brain
27	chr11:16916800-16917600	Enhancers	NHDF-Ad	bronchial
28	chr11:16916800-16917600	Enhancers	Osteobl	bone
29	chr11:16916800-16917800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:16916800-16918000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:16916800-16919000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:16916800-16920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:16917000-16918400	Weak transcription	Fetal Kidney	kidney
34	chr11:16917200-16918400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:16917200-16918600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:16917200-16919400	Enhancers	Gastric	stomach
37	chr11:16917400-16917600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:16917400-16918000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:16917400-16918200	Enhancers	Left Ventricle	heart

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