Variant report

Variant	rs7127354
Chromosome Location	chr11:63744152-63744153
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63714375..63717341-chr11:63743522..63745649,2	K562	blood:
2	chr11:63719230..63721081-chr11:63742511..63745293,2	K562	blood:
3	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
4	chr11:63744148..63748440-chr11:63764660..63767519,3	K562	blood:
5	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
6	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
7	chr11:63744148..63746964-chr11:63765815..63767519,2	K562	blood:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10897460	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11822339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11827620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.82[ASN][1000 genomes]
rs2133547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2133548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs320110	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs320112	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs320115	1.00[JPT][hapmap]
rs320117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320124	0.95[ASN][1000 genomes]
rs320150	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs320157	1.00[YRI][hapmap]
rs320158	1.00[YRI][hapmap]
rs56781057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57899119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59818390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60791209	0.82[ASN][1000 genomes]
rs61141225	0.82[ASN][1000 genomes]
rs6591831	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6591832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7106236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113021	1.00[AFR][1000 genomes]
rs7130187	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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63742000-63744200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:63742600-63746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:63743000-63744200	Enhancers	Primary B cells from cord blood	blood
4	chr11:63743000-63744200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:63743000-63744400	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
7	chr11:63743200-63744200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63743200-63744200	Genic enhancers	Lung	lung
9	chr11:63743200-63744400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63743200-63744400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:63743200-63744400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:63743200-63744400	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr11:63743400-63744200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:63743400-63744200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:63743400-63744200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:63743400-63744200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
22	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:63743400-63744200	Flanking Active TSS	Psoas Muscle	Psoas
24	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
25	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
26	chr11:63743400-63744200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:63743400-63744200	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr11:63743400-63744200	Transcr. at gene 5' and 3'	HepG2	liver
29	chr11:63743400-63744200	Transcr. at gene 5' and 3'	HMEC	breast
30	chr11:63743400-63744400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63743400-63744400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:63743400-63744400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:63743400-63744400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:63743400-63744400	Genic enhancers	Liver	Liver
36	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
37	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
38	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
39	chr11:63743400-63744400	Flanking Active TSS	Fetal Heart	heart
40	chr11:63743400-63744400	Genic enhancers	Pancreas	Pancrea
41	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
42	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr11:63743400-63744400	Genic enhancers	Spleen	Spleen
44	chr11:63743400-63744400	Transcr. at gene 5' and 3'	A549	lung
45	chr11:63743400-63744400	Flanking Active TSS	NH-A	brain
46	chr11:63743400-63744400	Transcr. at gene 5' and 3'	NHEK	skin
47	chr11:63743400-63744600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:63743400-63744600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:63743600-63744200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:63743600-63744200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell

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