Variant report

Variant	rs12633474
Chromosome Location	chr3:194842571-194842572
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	chr3:194840474..194843424-chr3:194874062..194876666,2	K562	blood:
2	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1105819	0.94[ASN][1000 genomes]
rs34500381	0.94[ASN][1000 genomes]
rs67525872	0.94[ASN][1000 genomes]
rs67885640	0.94[ASN][1000 genomes]
rs6794662	0.85[EUR][1000 genomes]
rs869519	0.94[ASN][1000 genomes]
rs903303	0.94[ASN][1000 genomes]
rs903306	0.94[ASN][1000 genomes]
rs9830280	0.85[EUR][1000 genomes]
rs9833747	0.92[ASN][1000 genomes]
rs9837397	0.87[ASN][1000 genomes]
rs9837538	0.83[ASN][1000 genomes]
rs9841564	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
13	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
15	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:194831600-194857400	Weak transcription	Pancreas	Pancrea
5	chr3:194832400-194853600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:194832800-194856200	Weak transcription	Primary T cells from cord blood	blood
7	chr3:194834800-194845400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:194834800-194850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:194836000-194846200	Enhancers	Placenta	Placenta
10	chr3:194836600-194842600	Enhancers	HUVEC	blood vessel
11	chr3:194837600-194844400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:194839200-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:194839200-194861400	Weak transcription	Aorta	Aorta
14	chr3:194839400-194845200	Weak transcription	Right Atrium	heart
15	chr3:194839400-194848800	Weak transcription	Lung	lung
16	chr3:194839600-194849200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:194839800-194843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:194839800-194844000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:194839800-194844400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:194839800-194844800	Weak transcription	Fetal Thymus	thymus
21	chr3:194840200-194849200	Weak transcription	Fetal Kidney	kidney
22	chr3:194840400-194845200	Weak transcription	Left Ventricle	heart
23	chr3:194840400-194846000	Weak transcription	Adipose Nuclei	Adipose
24	chr3:194840600-194843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:194840600-194849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:194840800-194842600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:194840800-194844200	Weak transcription	Fetal Heart	heart
28	chr3:194841000-194844400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:194841000-194845800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:194841000-194849800	Weak transcription	NHLF	lung
31	chr3:194841000-194853400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
33	chr3:194841200-194842600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:194841200-194842800	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:194841200-194843200	Weak transcription	Fetal Stomach	stomach
36	chr3:194841200-194845000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:194841400-194844600	Weak transcription	HepG2	liver
38	chr3:194841400-194849000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:194841400-194868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:194841600-194843400	Weak transcription	NHDF-Ad	bronchial
41	chr3:194841600-194844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:194841600-194845000	Weak transcription	Right Ventricle	heart
43	chr3:194841800-194842600	Weak transcription	K562	blood
44	chr3:194841800-194843400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:194841800-194843400	Weak transcription	Spleen	Spleen
46	chr3:194841800-194844200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:194841800-194851200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:194842000-194842600	Strong transcription	Fetal Intestine Small	intestine
49	chr3:194842000-194843200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:194842000-194843200	Weak transcription	Fetal Muscle Trunk	muscle

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