Variant report

Variant	rs225648
Chromosome Location	chr6:142483664-142483665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142470687..142472679-chr6:142481549..142483699,2	K562	blood:
2	chr6:142475480..142477535-chr6:142483300..142485466,2	K562	blood:
3	chr6:142482644..142484421-chr6:142484812..142486415,2	MCF-7	breast:
4	chr6:142475480..142479893-chr6:142481592..142484800,4	K562	blood:
5	chr6:142476386..142478985-chr6:142483280..142485789,2	MCF-7	breast:
6	chr6:142481873..142484319-chr6:142484922..142487226,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1989181	0.89[JPT][hapmap]
rs225604	0.81[TSI][hapmap]
rs225620	0.81[TSI][hapmap]
rs225624	0.83[TSI][hapmap]
rs225656	0.83[TSI][hapmap]
rs225657	0.83[TSI][hapmap]
rs225691	0.89[ASN][1000 genomes]
rs225699	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs3811083	0.94[JPT][hapmap]
rs3811088	0.93[GIH][hapmap];0.89[JPT][hapmap]
rs4896576	0.89[JPT][hapmap]
rs4896580	0.84[JPT][hapmap]
rs6570497	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6902780	0.83[JPT][hapmap]
rs6926279	0.93[GIH][hapmap]
rs6934439	0.89[JPT][hapmap]
rs6940882	0.94[JPT][hapmap]
rs7742164	0.93[GIH][hapmap];0.89[JPT][hapmap]
rs7756224	0.89[JPT][hapmap]
rs9373333	0.83[JPT][hapmap]
rs9385985	0.83[JPT][hapmap]
rs9484600	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142468800-142488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:142469200-142487800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:142469600-142487800	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:142469600-142487800	Weak transcription	Thymus	Thymus
5	chr6:142469800-142487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:142470000-142484000	Weak transcription	Psoas Muscle	Psoas
7	chr6:142470000-142486400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:142470200-142484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:142470200-142487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:142470200-142488200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:142470200-142488200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:142470200-142491800	Weak transcription	Fetal Stomach	stomach
13	chr6:142470200-142493600	Weak transcription	HSMMtube	muscle
14	chr6:142470200-142504000	Weak transcription	Spleen	Spleen
15	chr6:142470400-142487400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:142470400-142487600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:142470400-142487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:142470400-142487600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:142470600-142483800	Weak transcription	Fetal Lung	lung
20	chr6:142470600-142486000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:142470600-142487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:142470800-142487600	Weak transcription	Fetal Intestine Large	intestine
23	chr6:142470800-142487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:142471600-142485600	Weak transcription	Brain Germinal Matrix	brain
25	chr6:142472000-142487600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:142472400-142487800	Weak transcription	Left Ventricle	heart
27	chr6:142472400-142487800	Weak transcription	Ovary	ovary
28	chr6:142472400-142488200	Weak transcription	Primary B cells from cord blood	blood
29	chr6:142472800-142487000	Weak transcription	Fetal Thymus	thymus
30	chr6:142472800-142487200	Weak transcription	Dnd41	blood
31	chr6:142472800-142487600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:142473200-142487800	Weak transcription	Lung	lung
33	chr6:142474200-142487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:142474600-142487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:142474600-142500800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:142474800-142506800	Weak transcription	Hela-S3	cervix
37	chr6:142475200-142487800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:142475800-142483800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:142477000-142487800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:142477200-142486800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:142477200-142500600	Weak transcription	Fetal Brain Male	brain
42	chr6:142477400-142486000	Weak transcription	Brain Angular Gyrus	brain
43	chr6:142477400-142487800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:142477400-142487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:142477400-142487800	Weak transcription	Adipose Nuclei	Adipose
46	chr6:142477400-142487800	Weak transcription	HSMM	muscle
47	chr6:142477400-142488600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:142477600-142487400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:142477600-142487600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:142477600-142487600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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