Variant report

Variant	rs1392118
Chromosome Location	chr11:63712734-63712735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
2	chr11:63706123..63708647-chr11:63708670..63712946,5	MCF-7	breast:
3	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
4	chr11:63605242..63608027-chr11:63711058..63713098,3	K562	blood:
5	chr11:63711504..63713608-chr11:63716901..63718545,3	MCF-7	breast:
6	chr11:63704165..63707405-chr11:63709162..63713510,4	K562	blood:
7	chr11:63710236..63713090-chr11:63721173..63723810,3	K562	blood:
8	chr11:63604963..63607370-chr11:63711128..63713455,3	MCF-7	breast:
9	chr11:63704405..63708949-chr11:63710119..63713383,6	MCF-7	breast:
10	chr11:63594404..63596969-chr11:63711957..63713589,2	MCF-7	breast:
11	chr11:63512721..63513749-chr11:63712605..63713796,3	MCF-7	breast:
12	chr11:63710236..63713268-chr11:63721628..63723810,3	K562	blood:
13	chr11:63712151..63714978-chr11:63752248..63754050,2	K562	blood:
14	chr11:63682858..63685313-chr11:63711192..63714152,2	MCF-7	breast:
15	chr11:63712054..63714315-chr11:65194541..65196284,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10897460	0.91[ASN][1000 genomes]
rs11231634	0.91[ASN][1000 genomes]
rs11602912	0.88[ASN][1000 genomes]
rs11822339	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11827620	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12099085	0.91[ASN][1000 genomes]
rs12271959	0.91[ASN][1000 genomes]
rs2133547	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133548	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs320110	0.91[ASN][1000 genomes]
rs320112	1.00[AMR][1000 genomes]
rs320115	0.91[ASN][1000 genomes]
rs320117	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs320124	0.87[ASN][1000 genomes]
rs56781057	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57219930	0.91[ASN][1000 genomes]
rs57899119	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58678024	0.91[ASN][1000 genomes]
rs59114361	1.00[AFR][1000 genomes]
rs59818390	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60791209	1.00[ASN][1000 genomes]
rs61141225	1.00[ASN][1000 genomes]
rs6591831	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6591832	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7106236	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7127354	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7130187	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73494120	0.91[ASN][1000 genomes]
rs73496067	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73496068	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63713400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:63707400-63713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63707400-63713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
7	chr11:63707600-63713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:63707600-63713200	Weak transcription	Fetal Kidney	kidney
9	chr11:63707600-63713200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:63707600-63713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:63707600-63713800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:63707600-63713800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:63707800-63713000	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:63707800-63719200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:63707800-63719600	Weak transcription	Lung	lung
18	chr11:63708000-63713000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:63708000-63713200	Weak transcription	NHEK	skin
20	chr11:63708000-63713800	Weak transcription	HMEC	breast
21	chr11:63708000-63713800	Weak transcription	HUVEC	blood vessel
22	chr11:63708000-63714000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:63708000-63714000	Weak transcription	Gastric	stomach
24	chr11:63708000-63718200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:63708200-63713400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:63708200-63713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:63708200-63713600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:63708200-63713800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:63708200-63723400	Weak transcription	NH-A	brain
30	chr11:63708400-63712800	Weak transcription	Fetal Brain Male	brain
31	chr11:63708400-63713800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:63708600-63713200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:63708800-63712800	Weak transcription	Fetal Lung	lung
34	chr11:63708800-63713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:63709000-63713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:63709000-63714000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:63709000-63719200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:63709400-63713400	Weak transcription	Primary B cells from cord blood	blood
39	chr11:63709400-63718800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:63709600-63719600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:63709800-63718200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:63710000-63713400	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:63710200-63713400	Enhancers	Left Ventricle	heart
44	chr11:63710400-63712800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:63710400-63713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:63710400-63713200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:63710400-63713400	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:63710400-63713600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:63710600-63713000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:63710600-63715400	Strong transcription	Primary T cells from cord blood	blood

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