Variant report

Variant	rs60987624
Chromosome Location	chr3:138534281-138534282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138531629..138535484-chr3:138551476..138554700,4	K562	blood:
2	chr3:138532061..138535019-chr3:138545611..138549640,3	K562	blood:

Variant related genes	Relation type
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56382670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56927625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57600048	1.00[AMR][1000 genomes]
rs60295689	0.89[AFR][1000 genomes]
rs61301555	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972926	1.00[AMR][1000 genomes]
rs72982685	1.00[AMR][1000 genomes]
rs72990552	0.83[AFR][1000 genomes]
rs72990569	0.89[AFR][1000 genomes]
rs72990577	0.84[AFR][1000 genomes]
rs73866224	0.89[AFR][1000 genomes]
rs7611523	1.00[AMR][1000 genomes]
rs7635120	1.00[AMR][1000 genomes]
rs7649131	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr3:138494800-138537000	Weak transcription	HUVEC	blood vessel
2	chr3:138504000-138552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:138506000-138542200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:138506000-138551800	Weak transcription	Primary B cells from cord blood	blood
5	chr3:138506400-138536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:138506600-138537000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:138511000-138534400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:138512000-138542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:138512400-138536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:138513400-138536800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:138513400-138544400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:138513600-138536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:138513800-138534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:138513800-138543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:138513800-138543000	Weak transcription	Placenta	Placenta
16	chr3:138514400-138534400	Weak transcription	Fetal Thymus	thymus
17	chr3:138514400-138536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:138514800-138542600	Weak transcription	Hela-S3	cervix
19	chr3:138519400-138536600	Weak transcription	Left Ventricle	heart
20	chr3:138519400-138536600	Weak transcription	Psoas Muscle	Psoas
21	chr3:138522400-138534400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:138522600-138536600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:138522600-138536800	Weak transcription	Brain Anterior Caudate	brain
24	chr3:138522600-138537000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:138522800-138537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:138522800-138537000	Weak transcription	Small Intestine	intestine
27	chr3:138523000-138542600	Weak transcription	HMEC	breast
28	chr3:138523000-138543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:138523400-138536600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:138523600-138536200	Weak transcription	HepG2	liver
31	chr3:138525600-138536400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:138527400-138536600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:138527600-138536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:138527600-138537000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:138528800-138552600	Weak transcription	Colonic Mucosa	Colon
36	chr3:138529200-138536800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:138529400-138536600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:138529400-138536800	Weak transcription	A549	lung
39	chr3:138529400-138537400	Weak transcription	Fetal Intestine Large	intestine
40	chr3:138529400-138544400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:138530000-138534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:138530600-138539200	Weak transcription	Fetal Intestine Small	intestine
43	chr3:138531200-138542600	Weak transcription	Fetal Stomach	stomach
44	chr3:138531600-138535000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:138531800-138537000	Weak transcription	Fetal Heart	heart
46	chr3:138531800-138542800	Weak transcription	Osteobl	bone
47	chr3:138532400-138535200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:138532600-138535200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:138532600-138535200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:138532600-138535200	Enhancers	Primary T helper cells PMA-I stimulated	--

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