Variant report

Variant	rs2603791
Chromosome Location	chr3:113456734-113456735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:
4	chr3:113440561..113444692-chr3:113452909..113456959,4	K562	blood:

Variant related genes	Relation type
ENSG00000239280	Chromatin interaction
ENSG00000176542	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12486414	0.87[AMR][1000 genomes]
rs12489192	0.87[AMR][1000 genomes]
rs12490048	0.81[AMR][1000 genomes]
rs12490651	0.87[AMR][1000 genomes]
rs12491540	0.87[AMR][1000 genomes]
rs12492290	0.87[AMR][1000 genomes]
rs12492542	0.87[AMR][1000 genomes]
rs12492783	0.81[AMR][1000 genomes]
rs12493602	0.87[AMR][1000 genomes]
rs12494777	0.87[AMR][1000 genomes]
rs12495298	0.93[AMR][1000 genomes]
rs12495713	0.87[AMR][1000 genomes]
rs12496604	0.87[AMR][1000 genomes]
rs12496617	0.81[AMR][1000 genomes]
rs12497754	0.87[AMR][1000 genomes]
rs16861230	0.81[AMR][1000 genomes]
rs16861233	0.81[AMR][1000 genomes]
rs16861235	0.81[AMR][1000 genomes]
rs16861331	0.87[AMR][1000 genomes]
rs2292512	0.81[AMR][1000 genomes]
rs2566972	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3773686	0.81[AMR][1000 genomes]
rs3821678	1.00[JPT][hapmap]

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:112 , 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	chr3:113440800-113458200	Weak transcription	HSMMtube	muscle
12	chr3:113440800-113461200	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:113440800-113461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:113440800-113463000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:113440800-113463600	Weak transcription	Ovary	ovary
16	chr3:113441400-113462800	Weak transcription	Fetal Brain Male	brain
17	chr3:113442200-113462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:113442200-113463400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:113442400-113462200	Weak transcription	NH-A	brain
20	chr3:113442600-113460000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:113443000-113461000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:113446000-113460000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:113446000-113463000	Weak transcription	Left Ventricle	heart
24	chr3:113449200-113462800	Weak transcription	Fetal Intestine Small	intestine
25	chr3:113449600-113458400	Weak transcription	Fetal Thymus	thymus
26	chr3:113449800-113461800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:113450000-113459800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:113450600-113460200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:113451000-113462600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:113451400-113459400	Weak transcription	Small Intestine	intestine
31	chr3:113451600-113461000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:113451600-113462800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:113453000-113460000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:113453200-113458600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr3:113453400-113459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:113453600-113463600	Enhancers	Liver	Liver
37	chr3:113454200-113457600	Enhancers	HepG2	liver
38	chr3:113454400-113458400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:113454400-113458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:113454400-113460000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:113454600-113457000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:113454800-113456800	Enhancers	Colon Smooth Muscle	Colon
43	chr3:113454800-113458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:113455000-113457200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:113455000-113460600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:113455200-113457200	Enhancers	Adipose Nuclei	Adipose
47	chr3:113455200-113457600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:113455200-113457800	Enhancers	Osteobl	bone
49	chr3:113455200-113458000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:113455200-113458400	Enhancers	Pancreatic Islets	Pancreatic Islet

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