Variant report

Variant	rs3792619
Chromosome Location	chr4:48171682-48171683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
2	chr4:48169322..48172122-chr4:48178324..48180864,2	K562	blood:
3	chr4:48164755..48167571-chr4:48169298..48171997,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10021919	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10033663	0.88[ASN][1000 genomes]
rs1159075	0.94[JPT][hapmap]
rs11942525	1.00[JPT][hapmap]
rs16860972	0.98[AFR][1000 genomes]
rs16861044	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16861106	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16861108	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17470919	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs17471142	0.94[JPT][hapmap]
rs17574399	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2456928	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2661528	0.81[CHB][hapmap]
rs2661535	0.89[ASN][1000 genomes]
rs2704401	0.81[CHB][hapmap]
rs28408546	0.85[ASN][1000 genomes]
rs28538414	0.85[ASN][1000 genomes]
rs3749503	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4543083	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55683170	0.85[ASN][1000 genomes]
rs58651988	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6814046	0.90[ASN][1000 genomes]
rs6819804	0.88[ASN][1000 genomes]
rs6829390	0.88[JPT][hapmap]
rs73244489	0.90[ASN][1000 genomes]
rs7654182	0.89[ASN][1000 genomes]
rs7682890	0.90[ASN][1000 genomes]
rs955692	0.88[ASN][1000 genomes]
rs996223	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9991974	0.88[ASN][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011820	chr4:48170669-48186729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
4	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
8	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
10	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
15	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:48164800-48174400	Weak transcription	HSMM	muscle
18	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
19	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:48166400-48172400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr4:48166400-48172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
24	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
26	chr4:48167600-48172600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr4:48167800-48172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:48168800-48172800	Strong transcription	Primary B cells from cord blood	blood
29	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
30	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:48169800-48172000	ZNF genes & repeats	GM12878-XiMat	blood
32	chr4:48169800-48173400	Weak transcription	Fetal Intestine Large	intestine
33	chr4:48170000-48175200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:48170600-48174400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:48170600-48176800	Weak transcription	Liver	Liver
36	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:48171000-48171800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:48171000-48172000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:48171200-48173400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:48171200-48174400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:48171400-48172000	Enhancers	Psoas Muscle	Psoas
43	chr4:48171400-48172200	Enhancers	Fetal Heart	heart
44	chr4:48171400-48175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:48171600-48171800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:48171600-48174600	Weak transcription	K562	blood

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