Variant report

Variant	rs3136496
Chromosome Location	chr11:46758037-46758038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46757054..46759693-chr11:46760177..46761810,2	MCF-7	breast:
2	chr11:46756420..46758070-chr11:46763484..46765200,2	MCF-7	breast:
3	chr11:46721813..46723552-chr11:46755545..46758064,2	K562	blood:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10466476	0.83[EUR][1000 genomes]
rs10466477	0.83[EUR][1000 genomes]
rs11038985	0.95[EUR][1000 genomes]
rs11038987	0.83[EUR][1000 genomes]
rs11822959	0.83[EUR][1000 genomes]
rs3136433	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136436	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136439	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136443	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136448	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136467	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136468	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136469	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136472	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136481	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136482	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136487	0.98[EUR][1000 genomes]
rs3136489	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136500	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136521	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4500447	0.83[EUR][1000 genomes]
rs57485117	0.83[EUR][1000 genomes]
rs5898	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884270	0.86[EUR][1000 genomes]
rs61884294	1.00[EUR][1000 genomes]
rs61884303	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884304	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884305	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61884306	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61884307	0.82[EUR][1000 genomes]
rs61897302	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61897303	0.83[EUR][1000 genomes]
rs61897304	0.83[EUR][1000 genomes]
rs61897308	0.83[AFR][1000 genomes]
rs7105052	0.81[EUR][1000 genomes]
rs7111811	0.83[EUR][1000 genomes]
rs7928445	0.83[EUR][1000 genomes]
rs7947517	0.83[EUR][1000 genomes]
rs9735937	0.82[EUR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
5	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
6	chr11:46751200-46760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:46751200-46761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:46751400-46760200	Weak transcription	A549	lung
10	chr11:46751400-46760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:46752000-46760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:46752000-46762800	Weak transcription	Gastric	stomach
14	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus
15	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
16	chr11:46756200-46758400	Genic enhancers	Liver	Liver
17	chr11:46757400-46762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:46757400-46762800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:46757800-46758400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:46757800-46758400	Genic enhancers	HepG2	liver
21	chr11:46757800-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:46757800-46762800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:46758000-46758200	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:46758000-46758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:46758000-46758800	Enhancers	HUVEC	blood vessel
26	chr11:46758000-46758800	Enhancers	Osteobl	bone
27	chr11:46758000-46761400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:46758000-46762600	Weak transcription	Fetal Brain Female	brain

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