Variant report

Variant	rs7130187
Chromosome Location	chr11:63742174-63742175
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63742089..63743658-chr11:63951371..63953619,2	K562	blood:
2	chr11:63585113..63586704-chr11:63741923..63744002,2	MCF-7	breast:
3	chr11:63448263..63450575-chr11:63740636..63743421,3	MCF-7	breast:
4	chr11:63741894..63742574-chr12:123011258..123012213,2	Hela-S3	cervix:
5	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
6	chr1:86046138..86046930-chr11:63742074..63742607,2	Hela-S3	cervix:
7	chr11:63605709..63607776-chr11:63741979..63743642,3	K562	blood:
8	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
9	chr11:63740485..63742258-chr11:63973387..63975999,2	K562	blood:
10	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
11	chr1:179846367..179846923-chr11:63742096..63742597,2	Hela-S3	cervix:
12	chr11:63740468..63742451-chr11:63765485..63768295,3	K562	blood:
13	chr11:63741777..63744026-chr11:64034710..64037556,2	MCF-7	breast:
14	chr11:63742100..63743638-chr11:67379753..67382600,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000169905	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000142871	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10897460	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11822339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11827620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12099085	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12271959	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs1392118	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2133548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320110	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs320112	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs320115	1.00[JPT][hapmap]
rs320117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs320124	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs320150	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs320157	0.88[YRI][hapmap]
rs320158	0.88[YRI][hapmap]
rs56781057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57899119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59818390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60791209	0.87[ASN][1000 genomes]
rs61141225	0.87[ASN][1000 genomes]
rs6591831	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6591832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7106236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7111805	1.00[MEX][hapmap]
rs7113021	0.96[AFR][1000 genomes]
rs7127354	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496067	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63741000-63743400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:63741400-63742400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr11:63741400-63743000	Active TSS	Hela-S3	cervix
4	chr11:63741400-63743200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:63741400-63743200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:63741600-63742200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:63741600-63742200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:63741600-63742200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:63741600-63742200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:63741600-63742200	Active TSS	Brain Germinal Matrix	brain
11	chr11:63741600-63742200	Active TSS	Dnd41	blood
12	chr11:63741600-63742400	Active TSS	Primary B cells from cord blood	blood
13	chr11:63741600-63742600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr11:63741600-63742600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:63741600-63742800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:63741600-63742800	Active TSS	Colon Smooth Muscle	Colon
17	chr11:63741600-63742800	Active TSS	Fetal Stomach	stomach
18	chr11:63741600-63742800	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:63741600-63742800	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:63741600-63743000	Active TSS	Brain Cingulate Gyrus	brain
21	chr11:63741600-63743200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:63741600-63743200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:63741600-63743200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:63741600-63743200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:63741600-63743200	Active TSS	Osteobl	bone
26	chr11:63741600-63743400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:63741600-63743400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:63741600-63743400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:63741600-63743400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:63741600-63743400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:63741600-63743400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:63741600-63743400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:63741600-63743400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:63741600-63743400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:63741600-63743400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:63741600-63743400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:63741600-63743400	Active TSS	Brain Angular Gyrus	brain
38	chr11:63741600-63743400	Active TSS	Brain Anterior Caudate	brain
39	chr11:63741600-63743400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:63741600-63743400	Active TSS	Colonic Mucosa	Colon
41	chr11:63741600-63743400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:63741600-63743400	Active TSS	Fetal Brain Female	brain
43	chr11:63741600-63743400	Active TSS	Fetal Intestine Large	intestine
44	chr11:63741600-63743400	Active TSS	Fetal Kidney	kidney
45	chr11:63741600-63743400	Active TSS	Psoas Muscle	Psoas
46	chr11:63741600-63743400	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:63741600-63743400	Active TSS	Right Ventricle	heart
48	chr11:63741600-63743400	Active TSS	Thymus	Thymus
49	chr11:63741600-63743400	Active TSS	A549	lung
50	chr11:63741600-63743400	Active TSS	GM12878-XiMat	blood

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