Variant report

Variant	rs2593817
Chromosome Location	chr3:47936052-47936053
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	chr3:47930805..47933794-chr3:47935046..47936999,2	K562	blood:
2	chr3:47935127..47936630-chr3:47951043..47952545,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1486916	1.00[AMR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes]
rs319683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55736379	1.00[AMR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831515	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47957000	Weak transcription	Small Intestine	intestine
2	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:47912600-47939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:47915000-47939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:47917600-47957400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:47919800-47937000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:47922000-47951400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:47926800-47953400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:47926800-47957400	Weak transcription	Colonic Mucosa	Colon
10	chr3:47927000-47936800	Weak transcription	GM12878-XiMat	blood
11	chr3:47930000-47940000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:47930200-47937000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:47930200-47941600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr3:47932000-47937200	Strong transcription	Osteobl	bone
15	chr3:47932000-47969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:47932200-47937600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:47932400-47937200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:47932400-47941600	Strong transcription	HSMMtube	muscle
19	chr3:47932400-47941800	Strong transcription	NH-A	brain
20	chr3:47932800-47937400	Strong transcription	HSMM	muscle
21	chr3:47933000-47942800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:47933200-47936200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:47933200-47943800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:47933200-47953200	Weak transcription	Fetal Kidney	kidney
25	chr3:47933400-47937800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:47933600-47936600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:47933600-47937800	Strong transcription	Placenta	Placenta
28	chr3:47933800-47937400	Strong transcription	Fetal Lung	lung
29	chr3:47933800-47937400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr3:47933800-47939000	Weak transcription	Fetal Thymus	thymus
31	chr3:47933800-47939000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:47933800-47942800	Weak transcription	Aorta	Aorta
33	chr3:47933800-47948400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:47933800-47952200	Weak transcription	Psoas Muscle	Psoas
35	chr3:47933800-47953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:47934000-47936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:47934000-47936400	Weak transcription	NHLF	lung
38	chr3:47934000-47936800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:47934000-47936800	Weak transcription	Thymus	Thymus
40	chr3:47934000-47938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:47934000-47940800	Weak transcription	Pancreas	Pancrea
42	chr3:47934000-47941000	Weak transcription	Stomach Mucosa	stomach
43	chr3:47934000-47941200	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:47934000-47941200	Weak transcription	HMEC	breast
45	chr3:47934000-47941800	Strong transcription	Fetal Muscle Leg	muscle
46	chr3:47934000-47946600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:47934000-47952400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:47934000-47952400	Weak transcription	Spleen	Spleen
49	chr3:47934000-47952800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:47934200-47936400	Weak transcription	Duodenum Mucosa	Duodenum

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