Variant report

Variant	rs73074254
Chromosome Location	chr3:194801044-194801045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194792659..194796226-chr3:194797531..194801408,5	MCF-7	breast:
2	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
3	chr3:194800974..194803958-chr3:194804726..194808697,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12633205	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12636377	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59202154	0.97[ASN][1000 genomes]
rs59757814	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60902112	0.87[ASN][1000 genomes]
rs73074261	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73074264	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73206619	0.87[ASN][1000 genomes]
rs7653402	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
3	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
5	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:194790400-194808000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:194790600-194801600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:194790600-194801800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:194790600-194802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:194790600-194802400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:194790600-194807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:194790800-194803600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:194790800-194807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:194790800-194807800	Weak transcription	HepG2	liver
16	chr3:194791000-194801400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:194791000-194821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:194792400-194804200	Enhancers	Fetal Thymus	thymus
19	chr3:194793600-194801200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:194794000-194807800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:194794800-194804400	Enhancers	Spleen	Spleen
22	chr3:194795400-194803800	Enhancers	Thymus	Thymus
23	chr3:194796000-194804000	Enhancers	Fetal Muscle Leg	muscle
24	chr3:194797200-194801600	Weak transcription	Fetal Intestine Small	intestine
25	chr3:194797200-194808200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:194797400-194802200	Weak transcription	NHLF	lung
27	chr3:194797800-194801400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:194798000-194801400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:194798000-194802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:194798800-194804000	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:194799000-194802200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:194799200-194801800	Enhancers	Pancreas	Pancrea
33	chr3:194799200-194803400	Enhancers	Dnd41	blood
34	chr3:194799400-194804000	Enhancers	Right Ventricle	heart
35	chr3:194799400-194807000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:194799600-194801400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:194799600-194801800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:194799600-194803000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:194799800-194803200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:194799800-194803200	Enhancers	Hela-S3	cervix
41	chr3:194799800-194803800	Enhancers	Placenta	Placenta
42	chr3:194799800-194803800	Enhancers	Left Ventricle	heart
43	chr3:194799800-194803800	Enhancers	Lung	lung
44	chr3:194799800-194804000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:194799800-194804200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:194800000-194801200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:194800000-194801800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:194800000-194802000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:194800000-194803400	Enhancers	HUVEC	blood vessel
50	chr3:194800000-194803800	Enhancers	Right Atrium	heart

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