Variant report

Variant	rs73854819
Chromosome Location	chr3:113458477-113458478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:113458036-113458576	K562	blood:	n/a	n/a
2	CTCF	chr3:113458380-113458530	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:113414100..113416894-chr3:113456404..113459311,4	K562	blood:
2	chr3:113456365..113458502-chr3:113458726..113460409,2	MCF-7	breast:
3	chr3:113415334..113416894-chr3:113456404..113458988,2	K562	blood:

Variant related genes	Relation type
NAA50	TF binding region
ENSG00000239280	Chromatin interaction
ENSG00000176542	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55868922	1.00[AMR][1000 genomes]
rs57010522	1.00[EUR][1000 genomes]
rs58868226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9839237	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1799124	chr3:113426201-113468350	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113432800-113463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:113432800-113463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:113433000-113460000	Weak transcription	Aorta	Aorta
4	chr3:113435000-113463000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:113435200-113463000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:113435200-113463000	Weak transcription	Esophagus	oesophagus
7	chr3:113435400-113462600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:113435600-113462200	Weak transcription	Thymus	Thymus
9	chr3:113436000-113462800	Weak transcription	Spleen	Spleen
10	chr3:113437200-113464000	Weak transcription	Lung	lung
11	chr3:113440800-113461200	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:113440800-113461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:113440800-113463000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:113440800-113463600	Weak transcription	Ovary	ovary
15	chr3:113441400-113462800	Weak transcription	Fetal Brain Male	brain
16	chr3:113442200-113462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:113442200-113463400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:113442400-113462200	Weak transcription	NH-A	brain
19	chr3:113442600-113460000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:113443000-113461000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:113446000-113460000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr3:113446000-113463000	Weak transcription	Left Ventricle	heart
23	chr3:113449200-113462800	Weak transcription	Fetal Intestine Small	intestine
24	chr3:113449800-113461800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr3:113450000-113459800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:113450600-113460200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:113451000-113462600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:113451400-113459400	Weak transcription	Small Intestine	intestine
29	chr3:113451600-113461000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:113451600-113462800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:113453000-113460000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:113453200-113458600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:113453400-113459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:113453600-113463600	Enhancers	Liver	Liver
35	chr3:113454400-113458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:113454400-113460000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:113454800-113458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:113455000-113460600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:113455200-113458600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr3:113455200-113459800	Enhancers	NHDF-Ad	bronchial
41	chr3:113455200-113463200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:113455800-113459200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:113455800-113459200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:113455800-113459400	Weak transcription	Primary B cells from cord blood	blood
45	chr3:113455800-113459800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:113455800-113462400	Weak transcription	Fetal Kidney	kidney
47	chr3:113455800-113462600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:113455800-113462800	Weak transcription	Fetal Stomach	stomach
49	chr3:113456000-113459000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:113456000-113459200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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