Variant report

Variant	rs622400
Chromosome Location	chr11:63489196-63489197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63487925..63490016-chr11:63510540..63512690,2	K562	blood:
2	chr11:63437687..63440322-chr11:63486788..63490185,4	K562	blood:
3	chr11:63485885..63488439-chr11:63488604..63490732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184743	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1199383	1.00[AMR][1000 genomes]
rs1301131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158455	1.00[YRI][hapmap]
rs17158456	0.85[YRI][hapmap]
rs2510524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957254	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957255	1.00[AMR][1000 genomes]
rs2957256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489580	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496346	1.00[AFR][1000 genomes]
rs496354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	0.85[YRI][hapmap]
rs501095	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502017	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502717	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509932	1.00[YRI][hapmap]
rs512073	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516068	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516981	1.00[AMR][1000 genomes]
rs518304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs518453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519374	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs520640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs538627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542124	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573083	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv897628	chr11:63456478-63508334	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:63456800-63490000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:63459600-63516600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:63463200-63516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:63464200-63489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:63466200-63490000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:63467400-63497200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:63467600-63489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:63467600-63489800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:63467600-63516000	Weak transcription	Thymus	Thymus
11	chr11:63467600-63517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:63469400-63497600	Weak transcription	Left Ventricle	heart
13	chr11:63473000-63516000	Weak transcription	Lung	lung
14	chr11:63473000-63518000	Weak transcription	Aorta	Aorta
15	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
16	chr11:63474800-63501200	Weak transcription	Fetal Stomach	stomach
17	chr11:63477400-63498000	Weak transcription	NHLF	lung
18	chr11:63478400-63492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:63478400-63493600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:63478400-63496000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:63478400-63496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:63478600-63490200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:63478800-63495200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:63478800-63517200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:63479600-63493000	Weak transcription	Placenta	Placenta
26	chr11:63480600-63509000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:63481000-63501000	Weak transcription	Fetal Brain Female	brain
28	chr11:63481000-63517600	Weak transcription	Spleen	Spleen
29	chr11:63481600-63505800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:63481800-63512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:63482400-63505000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:63483400-63489600	Weak transcription	HMEC	breast
33	chr11:63483400-63517000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:63483600-63494000	Weak transcription	HepG2	liver
35	chr11:63484000-63504600	Weak transcription	A549	lung
36	chr11:63484400-63490200	Weak transcription	Fetal Brain Male	brain
37	chr11:63484600-63494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:63485000-63491200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:63486200-63519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:63486800-63490400	Weak transcription	Hela-S3	cervix
41	chr11:63487000-63491000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:63487000-63505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:63487000-63506200	Weak transcription	NHEK	skin
44	chr11:63487000-63516800	Weak transcription	Primary T cells from cord blood	blood
45	chr11:63487400-63489200	Weak transcription	GM12878-XiMat	blood
46	chr11:63487400-63490200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:63487400-63501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:63487400-63505200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:63487400-63505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:63487400-63506200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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