Variant report

Variant	rs60523321
Chromosome Location	chr13:95833652-95833653
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	chr13:95827296..95830102-chr13:95830426..95833781,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12584917	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009772	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148495	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55994917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57148491	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61965905	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3414638	chr13:95829338-95836932	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3348199	chr13:95829360-95837030	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3365191	chr13:95829757-95837316	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
3	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
4	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
6	chr13:95807400-95837800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:95808200-95841800	Weak transcription	Osteobl	bone
8	chr13:95808400-95854600	Weak transcription	NHEK	skin
9	chr13:95810400-95836200	Weak transcription	Fetal Thymus	thymus
10	chr13:95810400-95836400	Weak transcription	Thymus	Thymus
11	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
12	chr13:95815000-95844200	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:95815200-95847800	Weak transcription	Hela-S3	cervix
14	chr13:95818200-95841800	Weak transcription	NHDF-Ad	bronchial
15	chr13:95822000-95834600	Weak transcription	Fetal Stomach	stomach
16	chr13:95822000-95837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:95823600-95844400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:95824600-95840000	Weak transcription	Fetal Lung	lung
19	chr13:95825400-95841400	Weak transcription	HUVEC	blood vessel
20	chr13:95826000-95833800	Weak transcription	K562	blood
21	chr13:95827200-95838000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:95827400-95872400	Weak transcription	NH-A	brain
23	chr13:95828000-95840400	Weak transcription	Liver	Liver
24	chr13:95828600-95833800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:95828600-95844200	Weak transcription	HSMM	muscle
26	chr13:95829400-95840400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:95829600-95834400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:95830000-95833800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:95830000-95836200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:95830200-95840000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:95830200-95841600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:95830400-95841400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:95830400-95845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:95830400-95845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:95831000-95835800	Weak transcription	Fetal Intestine Small	intestine
39	chr13:95831400-95836200	Weak transcription	NHLF	lung
40	chr13:95831600-95844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:95831600-95845200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr13:95831600-95845600	Weak transcription	Fetal Intestine Large	intestine
43	chr13:95832000-95838400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:95832200-95835000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:95832400-95834200	Enhancers	HepG2	liver
46	chr13:95832400-95835000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:95832600-95835400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr13:95832800-95833800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:95832800-95833800	Enhancers	Fetal Heart	heart
50	chr13:95832800-95833800	Enhancers	Rectal Mucosa Donor 31	rectum

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