Variant report

Variant	rs6414247
Chromosome Location	chr3:110799858-110799859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11918904	1.00[AMR][1000 genomes]
rs11921764	1.00[AMR][1000 genomes]
rs11925002	1.00[AMR][1000 genomes]
rs11925004	1.00[AMR][1000 genomes]
rs12489409	1.00[AMR][1000 genomes]
rs1531508	1.00[AFR][1000 genomes]
rs16857328	1.00[AMR][1000 genomes]
rs16857332	1.00[AMR][1000 genomes]
rs16857415	1.00[AMR][1000 genomes]
rs16857423	1.00[AMR][1000 genomes]
rs1871024	1.00[AMR][1000 genomes]
rs34475462	1.00[AMR][1000 genomes]
rs4682228	1.00[AMR][1000 genomes]
rs4682232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59810782	1.00[AMR][1000 genomes]
rs59995070	1.00[AMR][1000 genomes]
rs61178437	1.00[AMR][1000 genomes]
rs717160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs723024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934003	1.00[AMR][1000 genomes]
rs72934016	1.00[AMR][1000 genomes]
rs72934021	1.00[AMR][1000 genomes]
rs72934082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948778	1.00[AMR][1000 genomes]
rs72950734	1.00[AMR][1000 genomes]
rs72950741	1.00[AMR][1000 genomes]
rs9824422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110792600-110800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:110792600-110802200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:110794200-110800800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:110794200-110801600	Weak transcription	Ovary	ovary
6	chr3:110794200-110802200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:110794200-110809200	Weak transcription	Fetal Brain Male	brain
8	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:110794800-110804600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:110794800-110805200	Enhancers	Dnd41	blood
11	chr3:110795000-110800200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:110795000-110801200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:110795200-110800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:110795600-110801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:110796000-110804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:110796200-110801200	Enhancers	NHDF-Ad	bronchial
17	chr3:110796200-110806800	Weak transcription	Small Intestine	intestine
18	chr3:110796600-110803600	Weak transcription	HepG2	liver
19	chr3:110796800-110801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:110797000-110801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:110797200-110801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:110797400-110801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:110797800-110800800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:110797800-110801400	Enhancers	Liver	Liver
25	chr3:110798000-110800200	Enhancers	NHLF	lung
26	chr3:110798400-110800400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr3:110798400-110800800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:110798400-110801200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:110798400-110801800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:110798800-110803600	Weak transcription	Fetal Intestine Large	intestine
31	chr3:110799000-110800600	Enhancers	Osteobl	bone
32	chr3:110799000-110807000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:110799000-110807000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:110799200-110800000	Enhancers	Stomach Mucosa	stomach
35	chr3:110799400-110800000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:110799400-110800200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:110799400-110800400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:110799400-110800600	Enhancers	HSMM	muscle
39	chr3:110799400-110800800	Enhancers	Colon Smooth Muscle	Colon
40	chr3:110799400-110802000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:110799600-110800000	Enhancers	Fetal Intestine Small	intestine
42	chr3:110799600-110800000	Enhancers	Fetal Stomach	stomach
43	chr3:110799600-110800000	Enhancers	NH-A	brain
44	chr3:110799600-110800200	Enhancers	Duodenum Mucosa	Duodenum
45	chr3:110799600-110801200	Enhancers	Fetal Lung	lung
46	chr3:110799600-110801400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:110799800-110800200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:110799800-110800200	Enhancers	Placenta	Placenta
49	chr3:110799800-110800200	Enhancers	HSMMtube	muscle
50	chr3:110799800-110800400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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