Variant report

Variant	rs320127
Chromosome Location	chr11:63723945-63723946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63602956..63604586-chr11:63723382..63725607,2	K562	blood:
2	chr11:63531921..63533948-chr11:63721164..63724023,2	K562	blood:
3	chr11:63705830..63707459-chr11:63723406..63725247,2	MCF-7	breast:
4	chr11:63716457..63721344-chr11:63722093..63724085,4	MCF-7	breast:
5	chr11:63717794..63720318-chr11:63722548..63724637,2	K562	blood:
6	chr11:63721106..63724001-chr11:63724769..63727723,3	MCF-7	breast:
7	chr11:63721885..63726224-chr11:63740500..63742483,3	K562	blood:

Variant related genes	Relation type
ENSG00000256100	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000110583	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs161053	1.00[ASW][hapmap]
rs224174	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs3132752	0.85[YRI][hapmap]
rs320126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320149	0.87[YRI][hapmap]
rs4472946	1.00[ASW][hapmap]
rs497037	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs4980510	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs565004	0.87[YRI][hapmap]
rs576548	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:124 , 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	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
3	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:63713400-63724200	Strong transcription	K562	blood
5	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
6	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
9	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
10	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
11	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:63716400-63724000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:63717600-63726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63717600-63726200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:63717800-63724000	Strong transcription	HSMMtube	muscle
23	chr11:63717800-63726000	Strong transcription	Brain Germinal Matrix	brain
24	chr11:63717800-63726000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:63718200-63724000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:63718200-63725800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:63718800-63726000	Strong transcription	Fetal Brain Female	brain
28	chr11:63719000-63724000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:63719000-63724000	Strong transcription	Hela-S3	cervix
30	chr11:63719000-63724200	Strong transcription	Fetal Lung	lung
31	chr11:63719200-63725800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:63719400-63724200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:63719400-63724200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:63719400-63724200	Strong transcription	Spleen	Spleen
35	chr11:63719400-63726000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:63719600-63724000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:63719600-63724000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:63719600-63724000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:63719600-63724200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:63719600-63724200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:63719600-63724200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:63719600-63724200	Strong transcription	Brain Angular Gyrus	brain
43	chr11:63719600-63724200	Strong transcription	Lung	lung
44	chr11:63719600-63724200	Strong transcription	Right Ventricle	heart
45	chr11:63719600-63724400	Strong transcription	Gastric	stomach
46	chr11:63719600-63725200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:63719600-63725200	Strong transcription	Pancreas	Pancrea
48	chr11:63719600-63725800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr11:63719600-63726000	Strong transcription	Brain Anterior Caudate	brain
50	chr11:63719800-63724000	Strong transcription	Adipose Nuclei	Adipose

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