Variant report

Variant	rs320121
Chromosome Location	chr11:63726817-63726818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63724196..63727402-chr11:63741980..63743547,3	MCF-7	breast:
2	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
3	chr11:63724309..63727008-chr11:63727662..63729826,2	MCF-7	breast:
4	chr11:63708455..63711957-chr11:63724529..63727502,3	K562	blood:
5	chr11:63715459..63718256-chr11:63725234..63727442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256100	Chromatin interaction
ENSG00000176340	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10751004	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10792424	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897464	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10897466	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10897467	0.83[EUR][1000 genomes]
rs10897468	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10897470	0.82[EUR][1000 genomes]
rs11231646	0.81[EUR][1000 genomes]
rs11231653	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231662	0.82[EUR][1000 genomes]
rs11231663	0.82[EUR][1000 genomes]
rs11231664	0.82[EUR][1000 genomes]
rs11231670	0.82[EUR][1000 genomes]
rs11231671	0.82[EUR][1000 genomes]
rs11600062	0.82[EUR][1000 genomes]
rs11601228	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607028	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12790749	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12798491	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12800703	0.82[EUR][1000 genomes]
rs12808604	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1386346	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1684950	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783964	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129467	0.82[EUR][1000 genomes]
rs2318110	0.80[EUR][1000 genomes]
rs2508584	0.92[EUR][1000 genomes]
rs3019782	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs320156	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34134698	0.81[EUR][1000 genomes]
rs35492216	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3740636	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4426138	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs479975	0.81[EUR][1000 genomes]
rs481835	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs483340	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs487540	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488082	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs492357	0.82[EUR][1000 genomes]
rs4980509	0.80[EUR][1000 genomes]
rs4980512	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4980516	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980517	0.81[EUR][1000 genomes]
rs499118	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500493	0.92[EUR][1000 genomes]
rs502858	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504060	0.81[EUR][1000 genomes]
rs504314	0.86[EUR][1000 genomes]
rs528927	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs529915	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs539432	0.93[EUR][1000 genomes]
rs553724	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs562865	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567386	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs578295	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591830	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709594	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111130	0.83[EUR][1000 genomes]
rs728919	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7926608	0.83[EUR][1000 genomes]
rs7928990	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7936614	0.83[EUR][1000 genomes]
rs7938498	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7942318	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7951529	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943682	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
2	chr11:63720400-63728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:63720400-63729000	Weak transcription	NHDF-Ad	bronchial
4	chr11:63721000-63728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:63721200-63728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:63721800-63728200	Weak transcription	Stomach Mucosa	stomach
7	chr11:63722000-63729000	Weak transcription	Small Intestine	intestine
8	chr11:63722400-63728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:63723000-63727000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:63723400-63728800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:63723600-63727400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:63723600-63728400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:63723600-63728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:63723600-63729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:63723800-63727200	Weak transcription	HepG2	liver
16	chr11:63723800-63728200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:63723800-63728600	Weak transcription	Colonic Mucosa	Colon
18	chr11:63723800-63728800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:63723800-63729400	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:63723800-63730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:63724000-63727000	Weak transcription	Aorta	Aorta
22	chr11:63724000-63727400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:63724000-63727600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:63724000-63728200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:63724000-63728400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:63724000-63728400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:63724000-63728600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:63724000-63728800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:63724000-63728800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:63724000-63728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:63724000-63728800	Weak transcription	HSMMtube	muscle
32	chr11:63724000-63729200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:63724000-63729400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:63724000-63729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:63724200-63727200	Weak transcription	Brain Angular Gyrus	brain
36	chr11:63724200-63727400	Weak transcription	Lung	lung
37	chr11:63724200-63728200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:63724200-63728200	Weak transcription	GM12878-XiMat	blood
39	chr11:63724200-63728400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:63724200-63728400	Weak transcription	HSMM	muscle
41	chr11:63724200-63728600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:63724200-63728600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:63724200-63728600	Weak transcription	HMEC	breast
44	chr11:63724200-63728800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:63724200-63728800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:63724200-63729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:63724200-63729000	Weak transcription	Fetal Lung	lung
48	chr11:63724200-63729000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:63724200-63729000	Weak transcription	Spleen	Spleen
50	chr11:63724200-63729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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