Variant report

Variant	rs6893130
Chromosome Location	chr5:60632150-60632151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
2	chr5:60510067..60512878-chr5:60631211..60633924,2	K562	blood:
3	chr5:60627030..60629541-chr5:60631486..60634956,3	MCF-7	breast:
4	chr5:60457454..60460257-chr5:60630674..60632720,2	K562	blood:
5	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10514910	0.85[ASN][1000 genomes]
rs12517679	0.82[ASN][1000 genomes]
rs12519658	0.85[ASN][1000 genomes]
rs12520195	0.86[ASN][1000 genomes]
rs16891822	0.86[ASN][1000 genomes]
rs16891983	0.86[ASN][1000 genomes]
rs16892286	0.85[ASN][1000 genomes]
rs16892307	0.85[ASN][1000 genomes]
rs16892374	0.85[ASN][1000 genomes]
rs35102220	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35432189	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4590138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56885035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57709834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7445500	1.00[ASN][1000 genomes]

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	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
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv598319	chr5:60626957-60636828	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv980648	chr5:60631406-60633735	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60629600-60632200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:60630200-60636400	Weak transcription	Gastric	stomach
3	chr5:60630600-60632200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:60630800-60632200	Active TSS	Fetal Brain Female	brain
5	chr5:60630800-60640000	Weak transcription	Aorta	Aorta
6	chr5:60631000-60632200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:60631000-60637000	Weak transcription	Esophagus	oesophagus
8	chr5:60631000-60644000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:60631200-60632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:60631200-60634400	Weak transcription	Stomach Mucosa	stomach
11	chr5:60631200-60635000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:60631200-60635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:60631400-60632200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:60631400-60632200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:60631400-60632400	Weak transcription	Fetal Stomach	stomach
16	chr5:60631400-60632400	Weak transcription	Psoas Muscle	Psoas
17	chr5:60631400-60632600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:60631400-60632800	Enhancers	Brain Angular Gyrus	brain
19	chr5:60631400-60632800	Enhancers	Brain Substantia Nigra	brain
20	chr5:60631400-60632800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:60631400-60633200	Enhancers	Fetal Brain Male	brain
22	chr5:60631400-60633600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:60631400-60634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:60631400-60635000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:60631400-60635600	Weak transcription	Fetal Lung	lung
26	chr5:60631400-60636800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:60631400-60636800	Weak transcription	Right Ventricle	heart
28	chr5:60631400-60637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:60631400-60637000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:60631400-60637000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:60631400-60637000	Weak transcription	Colonic Mucosa	Colon
32	chr5:60631400-60637800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:60631400-60637800	Weak transcription	NHEK	skin
34	chr5:60631400-60639400	Weak transcription	Adipose Nuclei	Adipose
35	chr5:60631400-60639400	Weak transcription	Small Intestine	intestine
36	chr5:60631400-60640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:60631400-60640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:60631400-60640400	Weak transcription	NH-A	brain
39	chr5:60631400-60640800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:60631400-60642200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
42	chr5:60631600-60632200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:60631600-60632600	Enhancers	Brain Hippocampus Middle	brain
44	chr5:60631600-60632600	Weak transcription	NHLF	lung
45	chr5:60631600-60633800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:60631600-60633800	Weak transcription	A549	lung
47	chr5:60631600-60634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:60631600-60635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:60631600-60636000	Weak transcription	Fetal Heart	heart
50	chr5:60631600-60636800	Weak transcription	Colon Smooth Muscle	Colon

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