Variant report

Variant	rs57123766
Chromosome Location	chr11:63671103-63671104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
2	chr11:63636556..63639041-chr11:63667851..63671875,3	MCF-7	breast:
3	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
4	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55666465	1.00[AMR][1000 genomes]
rs57548015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
7	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
8	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
9	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
10	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 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	chr11:63657400-63677800	Strong transcription	Dnd41	blood
2	chr11:63658800-63678400	Strong transcription	Primary B cells from cord blood	blood
3	chr11:63659400-63678600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:63659600-63680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:63659800-63678000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr11:63659800-63682400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:63660000-63674400	Strong transcription	Fetal Thymus	thymus
8	chr11:63660200-63673200	Strong transcription	Fetal Intestine Small	intestine
9	chr11:63660600-63674000	Strong transcription	Fetal Stomach	stomach
10	chr11:63660800-63672600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:63660800-63674400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:63660800-63674400	Strong transcription	Fetal Lung	lung
13	chr11:63660800-63678000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:63661000-63673200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:63661000-63674000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:63661000-63677800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:63661000-63678000	Strong transcription	Liver	Liver
18	chr11:63661200-63678600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:63661400-63673600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:63661400-63675800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:63661600-63677400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:63661600-63678000	Strong transcription	Thymus	Thymus
23	chr11:63661600-63678000	Strong transcription	NHEK	skin
24	chr11:63661800-63674000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:63662200-63672200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:63662200-63672200	Strong transcription	HepG2	liver
27	chr11:63662200-63673000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:63662200-63673000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:63662200-63673800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr11:63662200-63674400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:63662200-63677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:63662400-63672000	Strong transcription	Spleen	Spleen
33	chr11:63662400-63672600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:63662400-63672800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:63662400-63673000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:63662400-63673000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:63662400-63673600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:63662400-63674400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:63662400-63674400	Strong transcription	Placenta	Placenta
40	chr11:63662400-63675400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr11:63662400-63675600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:63662400-63675800	Strong transcription	NHLF	lung
43	chr11:63662400-63677800	Strong transcription	Esophagus	oesophagus
44	chr11:63662400-63679200	Strong transcription	Colonic Mucosa	Colon
45	chr11:63662400-63679200	Strong transcription	Gastric	stomach
46	chr11:63662600-63672200	Strong transcription	HSMMtube	muscle
47	chr11:63662600-63672600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:63662600-63672800	Strong transcription	A549	lung
49	chr11:63662600-63673200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:63662600-63673800	Strong transcription	Osteobl	bone

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