Variant report

Variant	rs58090749
Chromosome Location	chr3:194788638-194788639
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	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
2	chr3:194405223..194406837-chr3:194788272..194790538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185112	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11915854	0.95[ASN][1000 genomes]
rs11928471	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1389725	0.95[ASN][1000 genomes]
rs56765751	0.81[AMR][1000 genomes]
rs57046126	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58495088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58646838	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59202154	0.81[AFR][1000 genomes]
rs60994526	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774906	0.95[ASN][1000 genomes]
rs6786493	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73056504	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73056512	0.93[ASN][1000 genomes]
rs73068294	0.86[EUR][1000 genomes]
rs73074258	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
10	esv3321941	chr3:194784663-194789461	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3494280	chr3:194784813-194788811	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3494283	chr3:194785263-194788711	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1848714	chr3:194785443-194792415	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv819035	chr3:194786039-194789122	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv33213	chr3:194786170-194789015	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv822407	chr3:194786273-194789043	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 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	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
4	chr3:194780600-194788800	Weak transcription	Lung	lung
5	chr3:194781000-194789400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
7	chr3:194782000-194790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:194783400-194789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:194784200-194789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:194784200-194790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:194785200-194788800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:194785200-194789800	Weak transcription	Aorta	Aorta
16	chr3:194785200-194796600	Weak transcription	NHLF	lung
17	chr3:194785400-194790200	Weak transcription	Esophagus	oesophagus
18	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
19	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
20	chr3:194785600-194788800	Weak transcription	Fetal Brain Female	brain
21	chr3:194785600-194789600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:194785600-194790000	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:194785600-194791000	Weak transcription	Small Intestine	intestine
24	chr3:194785600-194792400	Weak transcription	Right Ventricle	heart
25	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
26	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:194785800-194788800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:194785800-194789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:194786000-194788800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr3:194786000-194789200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:194786000-194789400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:194786000-194789400	Weak transcription	HepG2	liver
34	chr3:194786000-194790600	Weak transcription	Stomach Mucosa	stomach
35	chr3:194786000-194791000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:194786000-194791000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:194786000-194796600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:194786000-194800400	Weak transcription	GM12878-XiMat	blood
39	chr3:194786200-194788800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:194786200-194789600	Weak transcription	Spleen	Spleen
41	chr3:194786600-194789600	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:194786800-194790600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:194786800-194791000	Weak transcription	Osteobl	bone
44	chr3:194787000-194789800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:194787200-194789000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:194787200-194789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:194787200-194789800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:194787200-194800000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:194787400-194789800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:194787400-194790000	Weak transcription	Brain Anterior Caudate	brain

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