Variant report

Variant	rs6890983
Chromosome Location	chr5:118624941-118624942
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:
2	chr5:118623648..118626074-chr5:118666762..118668589,2	MCF-7	breast:
3	chr5:118604065..118607023-chr5:118622337..118626495,5	MCF-7	breast:
4	chr5:118624542..118627216-chr5:118638693..118640326,2	MCF-7	breast:
5	chr5:118623079..118625774-chr5:118657977..118661910,3	MCF-7	breast:
6	chr5:118624518..118627155-chr5:118657775..118661009,3	MCF-7	breast:
7	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:
8	chr5:118613152..118615517-chr5:118623481..118626512,3	K562	blood:
9	chr5:118608930..118611747-chr5:118623733..118626239,2	MCF-7	breast:
10	chr5:118602857..118608494-chr5:118621291..118626100,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10054006	0.92[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs10463708	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11738341	0.83[AFR][1000 genomes]
rs1966478	0.82[GIH][hapmap]
rs6595181	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6897511	0.84[JPT][hapmap];0.86[YRI][hapmap]
rs888769	0.84[GIH][hapmap]
rs9327096	0.87[AFR][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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:118611200-118625200	Weak transcription	Right Atrium	heart
3	chr5:118612000-118625200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:118613800-118626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:118615000-118626200	Weak transcription	Spleen	Spleen
6	chr5:118618400-118627800	Weak transcription	Right Ventricle	heart
7	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:118619800-118629600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:118620000-118625200	Weak transcription	Gastric	stomach
10	chr5:118620000-118629400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:118620800-118625200	Enhancers	NH-A	brain
12	chr5:118621000-118625800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:118621400-118627000	Weak transcription	Fetal Brain Female	brain
14	chr5:118621800-118625400	Flanking Active TSS	Dnd41	blood
15	chr5:118621800-118626600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr5:118621800-118627400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr5:118622200-118628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:118622400-118626600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:118622400-118626600	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:118622400-118628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:118622400-118628000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:118622600-118626200	Enhancers	NHDF-Ad	bronchial
23	chr5:118622600-118626600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:118622600-118627200	Enhancers	Stomach Mucosa	stomach
25	chr5:118622600-118627800	Enhancers	Fetal Lung	lung
26	chr5:118622800-118625200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:118622800-118625200	Weak transcription	Left Ventricle	heart
28	chr5:118622800-118625200	Weak transcription	Lung	lung
29	chr5:118622800-118625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:118622800-118626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:118622800-118626000	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:118622800-118626000	Weak transcription	Esophagus	oesophagus
33	chr5:118623200-118626200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:118623200-118626200	Enhancers	Fetal Stomach	stomach
35	chr5:118623400-118625200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:118623400-118625200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:118623400-118625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:118623400-118625200	Weak transcription	Pancreas	Pancrea
39	chr5:118623400-118625600	Enhancers	HSMMtube	muscle
40	chr5:118623400-118626400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:118623400-118626400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:118623600-118625000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:118623600-118625000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:118623800-118625000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:118623800-118625000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:118623800-118625200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:118623800-118625200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:118623800-118625400	Enhancers	HMEC	breast
49	chr5:118623800-118626000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:118623800-118626000	Enhancers	K562	blood

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