Variant report

Variant	rs520908
Chromosome Location	chr11:63453176-63453177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63441225..63443391-chr11:63450750..63453707,2	K562	blood:
2	chr11:63450989..63453241-chr11:63460723..63463208,2	K562	blood:
3	chr11:63447764..63451579-chr11:63451770..63456201,6	MCF-7	breast:
4	chr11:63448656..63451027-chr11:63451543..63454650,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10897442	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1186605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1404500	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs17615385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789218	1.00[CHB][hapmap]
rs3758647	1.00[CHB][hapmap]
rs41509648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs474548	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs542966	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs542998	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs558768	0.84[AFR][1000 genomes]
rs566255	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs58508927	1.00[ASN][1000 genomes]
rs684865	0.82[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7109362	0.82[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7113534	0.81[AMR][1000 genomes]
rs7118001	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122132	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63449600-63455600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:63450400-63454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:63450400-63454800	Weak transcription	Gastric	stomach
4	chr11:63450400-63455200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:63450400-63456000	Weak transcription	Placenta	Placenta
6	chr11:63450400-63466400	Weak transcription	Small Intestine	intestine
7	chr11:63450600-63454200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:63450600-63454200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:63450600-63469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:63450800-63454000	Weak transcription	Psoas Muscle	Psoas
11	chr11:63450800-63454200	Weak transcription	Liver	Liver
12	chr11:63450800-63460400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:63450800-63465400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:63450800-63465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:63451000-63454400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:63451000-63454600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:63451000-63466800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:63451000-63466800	Weak transcription	Stomach Mucosa	stomach
20	chr11:63451000-63467000	Weak transcription	Thymus	Thymus
21	chr11:63451200-63453200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:63451200-63453200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:63451200-63454000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:63451200-63454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:63451200-63454200	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:63451200-63454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:63451200-63454400	Weak transcription	NHEK	skin
28	chr11:63451200-63454400	Weak transcription	Osteobl	bone
29	chr11:63451200-63454600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:63451200-63454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:63451200-63454600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:63451200-63454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:63451200-63455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:63451200-63466400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:63451200-63466800	Weak transcription	Fetal Kidney	kidney
36	chr11:63451200-63475000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:63451200-63478000	Weak transcription	HSMM	muscle
38	chr11:63451200-63486400	Weak transcription	Primary T cells from cord blood	blood
39	chr11:63451400-63453200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:63451400-63453200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:63451400-63453400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:63451400-63453400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:63451400-63453400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:63451400-63454000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:63451400-63454000	Weak transcription	GM12878-XiMat	blood
46	chr11:63451400-63454400	Weak transcription	NHDF-Ad	bronchial
47	chr11:63451400-63454600	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:63451400-63455400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:63451400-63455400	Weak transcription	NHLF	lung
50	chr11:63451400-63455800	Enhancers	Fetal Brain Male	brain

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