Variant report

Variant	rs2704398
Chromosome Location	chr4:48165989-48165990
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	chr4:48164755..48167571-chr4:48169298..48171997,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1396049	0.83[AMR][1000 genomes]
rs16860943	1.00[AMR][1000 genomes]
rs16861067	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1979972	1.00[AMR][1000 genomes]
rs2089508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135957	0.83[AMR][1000 genomes]
rs2251240	1.00[AMR][1000 genomes]
rs2352590	0.83[AMR][1000 genomes]
rs2352591	0.83[AMR][1000 genomes]
rs2456926	0.83[AMR][1000 genomes]
rs2464500	1.00[AMR][1000 genomes]
rs2464501	0.83[AMR][1000 genomes]
rs2464506	0.83[AMR][1000 genomes]
rs2661526	1.00[AMR][1000 genomes]
rs2661527	1.00[AMR][1000 genomes]
rs2661531	1.00[AMR][1000 genomes]
rs2661534	1.00[AMR][1000 genomes]
rs2704397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2704428	1.00[AMR][1000 genomes]
rs2704429	1.00[AMR][1000 genomes]
rs2704432	1.00[AMR][1000 genomes]
rs2940329	1.00[AMR][1000 genomes]
rs34386002	1.00[AMR][1000 genomes]
rs3857073	0.83[AMR][1000 genomes]
rs4695333	0.83[AMR][1000 genomes]
rs60470389	1.00[AMR][1000 genomes]
rs6858033	0.83[AMR][1000 genomes]
rs7692882	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	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	nsv820308	chr4:48165642-48166304	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
2	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
4	chr4:48158400-48168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:48158400-48168000	Weak transcription	Gastric	stomach
6	chr4:48158400-48169600	Weak transcription	K562	blood
7	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
9	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
10	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
11	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
12	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
16	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
18	chr4:48158600-48167600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
21	chr4:48158800-48167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48158800-48168000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:48158800-48168800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
28	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:48159600-48166000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:48159600-48167600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
32	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:48160400-48168000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:48160400-48168800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:48164200-48171200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:48164600-48166600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:48164800-48174400	Weak transcription	HSMM	muscle
39	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
40	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:48165000-48170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:48165000-48171400	Weak transcription	Fetal Heart	heart
43	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:48165600-48166200	Active TSS	Liver	Liver
45	chr4:48165800-48166000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr4:48165800-48166000	Enhancers	Osteobl	bone
47	chr4:48165800-48166200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:48165800-48166200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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