Variant report

Variant	rs60602051
Chromosome Location	chr11:46328557-46328558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
2	chr11:46259356..46263049-chr11:46328282..46330652,4	MCF-7	breast:
3	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
4	chr11:46269271..46269776-chr11:46328018..46328621,2	K562	blood:
5	chr11:46328323..46330556-chr11:46354487..46356134,2	K562	blood:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55652831	0.89[ASN][1000 genomes]
rs55798544	0.81[ASN][1000 genomes]
rs56372998	0.83[ASN][1000 genomes]
rs72910063	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46318200-46330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:46319000-46329200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:46319200-46329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:46319200-46330000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:46319200-46330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:46319200-46330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
8	chr11:46319200-46342000	Weak transcription	Ovary	ovary
9	chr11:46319400-46330200	Weak transcription	Colonic Mucosa	Colon
10	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:46319600-46328800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:46320400-46329200	Strong transcription	Fetal Stomach	stomach
13	chr11:46321400-46330200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:46321400-46331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:46321600-46330000	Weak transcription	Lung	lung
17	chr11:46321600-46330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:46321800-46329400	Weak transcription	Spleen	Spleen
19	chr11:46321800-46330000	Weak transcription	NH-A	brain
20	chr11:46322000-46328800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:46322000-46329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
23	chr11:46322200-46328600	Weak transcription	Pancreas	Pancrea
24	chr11:46322200-46330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:46323000-46330400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:46323200-46329000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:46323400-46329000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:46324800-46328600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:46324800-46329000	Weak transcription	Stomach Mucosa	stomach
30	chr11:46325000-46330000	Weak transcription	GM12878-XiMat	blood
31	chr11:46325000-46330400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:46325400-46331000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:46325600-46329200	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:46325800-46330000	Weak transcription	K562	blood
35	chr11:46326400-46335400	Strong transcription	Gastric	stomach
36	chr11:46326600-46330000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:46326800-46329000	Weak transcription	Fetal Intestine Large	intestine
38	chr11:46327000-46328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:46327000-46328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:46327000-46328600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:46327000-46329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:46327000-46329200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:46327000-46330000	Strong transcription	Fetal Intestine Small	intestine
44	chr11:46327000-46330400	Weak transcription	Primary B cells from cord blood	blood
45	chr11:46327200-46329400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:46327600-46329200	Genic enhancers	NHDF-Ad	bronchial
47	chr11:46327800-46328800	Enhancers	Fetal Muscle Trunk	muscle
48	chr11:46327800-46329200	Weak transcription	Placenta	Placenta
49	chr11:46327800-46330000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:46327800-46330000	Weak transcription	Monocytes-CD14+_RO01746	blood

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