Variant report

Variant	rs73074258
Chromosome Location	chr3:194803891-194803892
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:
2	chr3:194800974..194803958-chr3:194804726..194808697,3	K562	blood:
3	chr3:194797462..194799742-chr3:194801483..194805292,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11915854	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928471	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1389725	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57046126	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58090749	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58495088	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58646838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60994526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6774906	1.00[ASN][1000 genomes]
rs6786493	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73056504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73056512	0.98[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:66 , 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	chr3:194790400-194808000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:194790600-194807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:194790800-194807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:194790800-194807800	Weak transcription	HepG2	liver
7	chr3:194791000-194821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:194792400-194804200	Enhancers	Fetal Thymus	thymus
9	chr3:194794000-194807800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:194794800-194804400	Enhancers	Spleen	Spleen
11	chr3:194796000-194804000	Enhancers	Fetal Muscle Leg	muscle
12	chr3:194797200-194808200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:194798800-194804000	Enhancers	Fetal Muscle Trunk	muscle
14	chr3:194799400-194804000	Enhancers	Right Ventricle	heart
15	chr3:194799400-194807000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:194799800-194804000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:194799800-194804200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:194800000-194804000	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:194800000-194804800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:194801000-194807800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:194801000-194814600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:194801200-194806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:194801200-194808200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:194801200-194814800	Weak transcription	Primary T cells from cord blood	blood
25	chr3:194801200-194814800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:194801400-194806800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:194801600-194804800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:194801600-194806600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:194801600-194808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:194801800-194807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:194802000-194826800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:194802600-194804600	Weak transcription	Small Intestine	intestine
33	chr3:194802600-194807400	Weak transcription	K562	blood
34	chr3:194802600-194807800	Weak transcription	Fetal Lung	lung
35	chr3:194802800-194805200	Weak transcription	Fetal Intestine Small	intestine
36	chr3:194802800-194807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:194803000-194804400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:194803000-194806000	Weak transcription	Fetal Stomach	stomach
39	chr3:194803000-194807200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:194803000-194807600	Weak transcription	Esophagus	oesophagus
41	chr3:194803000-194814400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:194803200-194804800	Enhancers	Fetal Heart	heart
43	chr3:194803200-194807200	Weak transcription	Pancreas	Pancrea
44	chr3:194803200-194808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:194803200-194815800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:194803400-194804400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:194803600-194804000	Enhancers	Psoas Muscle	Psoas
48	chr3:194803600-194804200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:194803600-194804800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:194803600-194808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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