Variant report

Variant	rs3019785
Chromosome Location	chr11:63661893-63661894
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	chr11:63661829..63663997-chr11:63667272..63670174,2	MCF-7	breast:
2	chr11:63655513..63657526-chr11:63661698..63663347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10751001	0.89[EUR][1000 genomes]
rs10897456	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10897459	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897467	0.86[AMR][1000 genomes]
rs11231623	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231628	0.96[EUR][1000 genomes]
rs11231637	0.92[ASN][1000 genomes]
rs11231643	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231655	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11231662	0.85[AMR][1000 genomes]
rs11231663	0.82[AMR][1000 genomes]
rs11231664	0.85[AMR][1000 genomes]
rs11231670	0.81[AMR][1000 genomes]
rs11600062	0.81[AMR][1000 genomes]
rs12417507	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12418000	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12421757	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12786124	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792726	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12793201	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12794404	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12797540	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12800703	0.85[AMR][1000 genomes]
rs1486936	0.92[ASN][1000 genomes]
rs2129467	0.85[AMR][1000 genomes]
rs224173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2318126	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34134698	0.81[AMR][1000 genomes]
rs3740637	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850943	0.89[EUR][1000 genomes]
rs4143327	0.90[ASN][1000 genomes]
rs449047	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454474	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs479975	0.81[AMR][1000 genomes]
rs492357	0.81[AMR][1000 genomes]
rs4963433	0.89[EUR][1000 genomes]
rs4980499	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4980500	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4980501	0.85[AMR][1000 genomes]
rs4980517	0.85[AMR][1000 genomes]
rs4980530	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504060	0.81[AMR][1000 genomes]
rs509701	0.81[AMR][1000 genomes]
rs61886128	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7105288	0.92[ASN][1000 genomes]
rs7112348	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7121067	0.92[ASN][1000 genomes]
rs7926608	0.86[AMR][1000 genomes]
rs7928919	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7936614	0.86[AMR][1000 genomes]
rs7939416	0.83[EUR][1000 genomes]
rs7950543	0.89[AFR][1000 genomes]
rs928948	0.92[EUR][1000 genomes]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
2	chr11:63655800-63662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:63655800-63662600	Weak transcription	HSMMtube	muscle
4	chr11:63655800-63664200	Weak transcription	NHDF-Ad	bronchial
5	chr11:63656000-63663400	Weak transcription	Fetal Heart	heart
6	chr11:63656200-63662400	Weak transcription	NHLF	lung
7	chr11:63656200-63663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63656200-63663600	Weak transcription	Aorta	Aorta
9	chr11:63656200-63664000	Weak transcription	NH-A	brain
10	chr11:63656400-63662200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:63656400-63662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:63656400-63662200	Weak transcription	Ovary	ovary
13	chr11:63656400-63662800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:63656400-63663400	Weak transcription	HSMM	muscle
15	chr11:63656400-63663400	Weak transcription	HUVEC	blood vessel
16	chr11:63656400-63665400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:63656600-63662400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:63656600-63662400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:63656600-63662600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:63656600-63662600	Weak transcription	Osteobl	bone
21	chr11:63656600-63663800	Weak transcription	Fetal Kidney	kidney
22	chr11:63656800-63662200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:63656800-63662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:63656800-63662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:63656800-63662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:63656800-63663400	Weak transcription	Small Intestine	intestine
27	chr11:63656800-63665800	Weak transcription	Psoas Muscle	Psoas
28	chr11:63657000-63662400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:63657000-63662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:63657000-63662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:63657000-63662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:63657000-63670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:63657200-63662200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63657200-63662200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:63657400-63662600	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:63657400-63677800	Strong transcription	Dnd41	blood
37	chr11:63658000-63662400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:63658000-63662600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:63658000-63663600	Weak transcription	Right Atrium	heart
40	chr11:63658200-63662400	Weak transcription	Placenta	Placenta
41	chr11:63658200-63664000	Weak transcription	HMEC	breast
42	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
43	chr11:63659000-63662200	Weak transcription	Brain Angular Gyrus	brain
44	chr11:63659000-63662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:63659200-63662200	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:63659200-63662400	Weak transcription	Right Ventricle	heart
47	chr11:63659200-63662400	Weak transcription	Spleen	Spleen
48	chr11:63659200-63665000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:63659400-63662200	Weak transcription	Gastric	stomach
50	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood

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