Variant report

Variant	rs7127063
Chromosome Location	chr11:9255996-9255997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9253716..9256497-chr11:9285301..9286956,2	K562	blood:
2	chr11:9254997..9256827-chr11:9284950..9286956,2	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11042237	0.83[AMR][1000 genomes]
rs11042239	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12270071	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272299	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12285199	0.81[YRI][hapmap]
rs13353070	0.88[AFR][1000 genomes]
rs13377440	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7932912	0.87[YRI][hapmap];0.96[AFR][1000 genomes]
rs7936147	0.85[AFR][1000 genomes]
rs868132	1.00[ASW][hapmap];0.85[LWK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9250800-9257800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
3	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:9251400-9271800	Weak transcription	Gastric	stomach
5	chr11:9252600-9264000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
7	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:9252800-9263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:9253000-9261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:9253000-9262200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:9253000-9265000	Weak transcription	K562	blood
12	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:9253200-9256000	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:9253200-9256000	Weak transcription	Fetal Thymus	thymus
15	chr11:9253200-9256200	Weak transcription	Fetal Stomach	stomach
16	chr11:9253200-9261200	Weak transcription	Left Ventricle	heart
17	chr11:9253200-9269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:9253200-9274600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:9253600-9258000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:9253600-9268200	Weak transcription	HepG2	liver
21	chr11:9253800-9261400	Weak transcription	Fetal Heart	heart
22	chr11:9253800-9271400	Weak transcription	HSMM	muscle
23	chr11:9254000-9263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:9254000-9263800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:9254200-9267600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:9254400-9256200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:9254400-9256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:9254400-9256400	Weak transcription	GM12878-XiMat	blood
29	chr11:9254400-9256600	Enhancers	Brain Substantia Nigra	brain
30	chr11:9254400-9256800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:9254400-9257200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:9254400-9258000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:9254400-9258200	Weak transcription	Small Intestine	intestine
34	chr11:9254400-9261400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:9254400-9261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:9254400-9262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:9254400-9263800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:9254400-9264200	Weak transcription	HUVEC	blood vessel
39	chr11:9254400-9267600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:9254400-9271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:9254400-9271800	Weak transcription	Osteobl	bone
42	chr11:9254400-9272400	Weak transcription	Ovary	ovary
43	chr11:9254400-9274600	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:9254600-9256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:9254600-9257200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:9254600-9258000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:9254600-9258000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:9254600-9262400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:9254600-9263600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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