Variant report

Variant	rs2351249
Chromosome Location	chr3:47820679-47820680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47809506..47818715-chr3:47820075..47824996,15	MCF-7	breast:
2	chr3:47819746..47821257-chr3:47823167..47825022,2	MCF-7	breast:
3	chr3:47587613..47590274-chr3:47819316..47821047,2	K562	blood:
4	chr3:47819738..47825460-chr3:47843094..47847845,6	K562	blood:
5	chr3:47787622..47789169-chr3:47820606..47823344,2	MCF-7	breast:
6	chr3:47820608..47822821-chr3:47870608..47873437,2	K562	blood:
7	chr3:47819996..47824833-chr3:47866390..47869916,6	K562	blood:
8	chr3:47765075..47767679-chr3:47818543..47820695,2	K562	blood:
9	chr3:47555986..47558236-chr3:47820565..47823335,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132153	Chromatin interaction
ENSG00000173473	Chromatin interaction
ENSG00000266457	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs4383546	1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes];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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv876759	chr3:47725315-47830741	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	nsv590233	chr3:47798700-47829277	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv965333	chr3:47815622-47845296	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47772800-47821000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:47777400-47821000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:47777400-47821000	Weak transcription	Brain Substantia Nigra	brain
4	chr3:47777400-47821800	Weak transcription	Right Ventricle	heart
5	chr3:47777600-47820800	Weak transcription	NHLF	lung
6	chr3:47784800-47820800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47787400-47820800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:47798800-47821000	Weak transcription	Brain Anterior Caudate	brain
9	chr3:47800000-47820800	Weak transcription	HSMMtube	muscle
10	chr3:47802800-47822000	Weak transcription	Aorta	Aorta
11	chr3:47805600-47820800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:47806200-47820800	Weak transcription	Colonic Mucosa	Colon
13	chr3:47806200-47821600	Weak transcription	Esophagus	oesophagus
14	chr3:47808200-47820800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:47809800-47820800	Weak transcription	HMEC	breast
16	chr3:47811200-47821000	Weak transcription	Stomach Mucosa	stomach
17	chr3:47812000-47821000	Weak transcription	HSMM	muscle
18	chr3:47813200-47821000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:47813800-47821000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:47814200-47820800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:47814200-47820800	Weak transcription	Fetal Kidney	kidney
22	chr3:47814400-47820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:47814400-47820800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:47814400-47820800	Weak transcription	NH-A	brain
25	chr3:47814400-47821000	Weak transcription	Placenta	Placenta
26	chr3:47814400-47821000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:47814400-47821000	Weak transcription	A549	lung
28	chr3:47814400-47821000	Weak transcription	NHDF-Ad	bronchial
29	chr3:47814600-47820800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:47814600-47820800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:47814600-47820800	Weak transcription	Liver	Liver
32	chr3:47814600-47820800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:47814600-47820800	Weak transcription	Fetal Lung	lung
34	chr3:47814600-47820800	Weak transcription	Osteobl	bone
35	chr3:47814600-47821000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:47814600-47821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:47814600-47821600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:47814800-47820800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:47814800-47820800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:47814800-47821000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:47816400-47820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:47817600-47821400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:47818000-47821600	Enhancers	Primary B cells from peripheral blood	blood
44	chr3:47818000-47821800	Weak transcription	Ovary	ovary
45	chr3:47818200-47820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:47818800-47821000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:47819000-47821600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:47819000-47821800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:47819200-47820800	Enhancers	Primary B cells from cord blood	blood
50	chr3:47819200-47820800	Strong transcription	Fetal Thymus	thymus

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