Variant report

Variant	rs73890639
Chromosome Location	chr3:194784260-194784261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
2	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
3	chr3:194782723..194784789-chr3:194796384..194799142,2	MCF-7	breast:
4	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
5	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
6	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
7	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
8	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
9	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
10	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
11	chr3:194559695..194562228-chr3:194782083..194784919,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3959148	0.92[ASN][1000 genomes]
rs4481101	0.90[ASN][1000 genomes]
rs57010056	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59202154	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72499622	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73068274	0.93[EUR][1000 genomes]
rs73068277	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73068290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73890640	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv948797	chr3:194232753-194789163	Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	esv1847174	chr3:194763601-194792415	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv592968	chr3:194775336-194787534	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	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
11	esv21116	chr3:194781127-194785923	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194774200-194787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:194776200-194787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
6	chr3:194780400-194784400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:194780600-194788600	Weak transcription	HUVEC	blood vessel
9	chr3:194780600-194788800	Weak transcription	Lung	lung
10	chr3:194781000-194788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:194781000-194789400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
13	chr3:194781600-194786200	Enhancers	Fetal Stomach	stomach
14	chr3:194782000-194785600	Enhancers	Spleen	Spleen
15	chr3:194782000-194788600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:194782000-194790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:194782600-194786200	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:194783000-194784600	Enhancers	Stomach Smooth Muscle	stomach
19	chr3:194783400-194785400	Enhancers	Fetal Heart	heart
20	chr3:194783400-194789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:194783600-194784600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:194783600-194784600	Enhancers	Right Ventricle	heart
23	chr3:194783600-194785800	Enhancers	Fetal Intestine Large	intestine
24	chr3:194783600-194786000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:194783600-194786000	Enhancers	HepG2	liver
26	chr3:194783600-194786200	Enhancers	Fetal Muscle Leg	muscle
27	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:194783800-194785800	Enhancers	Fetal Intestine Small	intestine
29	chr3:194783800-194786000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:194783800-194786600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:194783800-194788200	Weak transcription	Gastric	stomach
32	chr3:194784000-194785400	Enhancers	Esophagus	oesophagus
33	chr3:194784000-194785400	Enhancers	Left Ventricle	heart
34	chr3:194784000-194785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:194784000-194785600	Enhancers	Colon Smooth Muscle	Colon
36	chr3:194784000-194786000	Enhancers	Stomach Mucosa	stomach
37	chr3:194784000-194786600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:194784200-194785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:194784200-194785600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:194784200-194785600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:194784200-194785800	Enhancers	Placenta	Placenta
43	chr3:194784200-194786000	Enhancers	Primary B cells from peripheral blood	blood
44	chr3:194784200-194786200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:194784200-194786400	Enhancers	Fetal Thymus	thymus
46	chr3:194784200-194789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:194784200-194790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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