Variant report

Variant	rs11953221
Chromosome Location	chr5:95147211-95147212
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	chr5:95141198..95143249-chr5:95146319..95147835,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10042284	1.00[ASN][1000 genomes]
rs17085130	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927977	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700814	1.00[ASN][1000 genomes]
rs8750	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
6	chr5:95130000-95157400	Weak transcription	Ovary	ovary
7	chr5:95133600-95147800	Weak transcription	K562	blood
8	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
9	chr5:95142800-95148000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:95143000-95148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:95143200-95147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:95143200-95148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
14	chr5:95143400-95148000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr5:95143600-95147800	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:95143800-95147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:95143800-95147800	Enhancers	Fetal Intestine Large	intestine
18	chr5:95143800-95148400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:95143800-95149600	Enhancers	Fetal Lung	lung
20	chr5:95144200-95147600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:95144200-95147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:95144200-95147800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:95144200-95147800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:95144200-95148000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
26	chr5:95144400-95147800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:95144600-95147600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:95144600-95147800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:95144600-95148600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:95144600-95149000	Enhancers	Left Ventricle	heart
31	chr5:95144600-95151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:95144800-95147400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:95144800-95147800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:95144800-95148200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:95144800-95149600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:95145000-95147600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:95145200-95147400	Enhancers	Primary B cells from cord blood	blood
38	chr5:95145200-95148600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95145200-95149000	Enhancers	Thymus	Thymus
40	chr5:95145400-95147800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:95145400-95148600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:95145400-95148800	Enhancers	Lung	lung
43	chr5:95145400-95150200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:95145600-95147600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:95145600-95147600	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:95145600-95147600	Weak transcription	Psoas Muscle	Psoas
47	chr5:95145600-95148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:95145600-95148600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:95145600-95149600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:95145600-95153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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