Variant report

Variant	rs34323293
Chromosome Location	chr5:60617776-60617777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60457646..60461131-chr5:60617467..60620322,3	MCF-7	breast:
2	chr5:60607093..60609330-chr5:60616167..60617939,2	MCF-7	breast:
3	chr5:60611558..60614120-chr5:60615826..60618466,2	MCF-7	breast:
4	chr5:60617200..60621767-chr5:60624653..60629438,8	MCF-7	breast:
5	chr5:60616098..60618418-chr5:60628715..60630445,3	K562	blood:
6	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10939898	0.81[EUR][1000 genomes]
rs11738493	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746741	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11747144	0.81[EUR][1000 genomes]
rs11960587	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13156118	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13162866	0.81[EUR][1000 genomes]
rs13168165	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34027100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704054	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36069847	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55819324	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62368661	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62368664	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6870349	0.81[EUR][1000 genomes]
rs6881622	0.82[EUR][1000 genomes]
rs7446236	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60610000-60618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:60610800-60618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:60611200-60618200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:60611400-60618200	Weak transcription	NH-A	brain
5	chr5:60611400-60618800	Weak transcription	A549	lung
6	chr5:60611800-60618400	Weak transcription	HSMM	muscle
7	chr5:60613000-60618600	Weak transcription	Aorta	Aorta
8	chr5:60613400-60621000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:60614600-60618600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:60614600-60618800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:60614600-60620000	Enhancers	Fetal Intestine Small	intestine
12	chr5:60614800-60618200	Weak transcription	Osteobl	bone
13	chr5:60615600-60618000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:60615600-60618200	Weak transcription	NHDF-Ad	bronchial
15	chr5:60615600-60618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:60615600-60620600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr5:60615800-60618000	Weak transcription	NHLF	lung
18	chr5:60615800-60618200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:60615800-60618400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:60615800-60618400	Weak transcription	NHEK	skin
21	chr5:60615800-60618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:60615800-60618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:60615800-60618800	Weak transcription	Fetal Kidney	kidney
24	chr5:60615800-60619800	Enhancers	Duodenum Mucosa	Duodenum
25	chr5:60615800-60624200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:60615800-60624600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:60616000-60619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:60616000-60624600	Weak transcription	Fetal Stomach	stomach
29	chr5:60616200-60618200	Weak transcription	Stomach Mucosa	stomach
30	chr5:60616200-60625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:60616400-60618000	Weak transcription	HUVEC	blood vessel
32	chr5:60616400-60618200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:60616400-60618800	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:60616400-60618800	Weak transcription	Right Atrium	heart
35	chr5:60616400-60624400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:60616400-60625000	Weak transcription	Gastric	stomach
37	chr5:60616600-60618800	Weak transcription	Spleen	Spleen
38	chr5:60616600-60622200	Weak transcription	Adipose Nuclei	Adipose
39	chr5:60616600-60624000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:60616600-60624000	Weak transcription	Left Ventricle	heart
41	chr5:60616800-60618800	Weak transcription	Fetal Brain Male	brain
42	chr5:60616800-60624400	Weak transcription	Fetal Heart	heart
43	chr5:60616800-60625800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:60617000-60617800	Enhancers	Small Intestine	intestine
45	chr5:60617000-60619800	Enhancers	Fetal Intestine Large	intestine
46	chr5:60617000-60626200	Weak transcription	Esophagus	oesophagus
47	chr5:60617200-60618600	Weak transcription	Colonic Mucosa	Colon
48	chr5:60617200-60618600	Weak transcription	Fetal Thymus	thymus
49	chr5:60617200-60618800	Weak transcription	Lung	lung
50	chr5:60617200-60620400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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