Variant report

Variant	rs62430071
Chromosome Location	chr6:163759579-163759580
allele	C/T
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163743568..163746151-chr6:163758711..163760918,2	K562	blood:
2	chr6:163757980..163760301-chr6:163766336..163768728,2	K562	blood:
3	chr6:163751984..163754408-chr6:163756474..163759819,3	K562	blood:
4	chr6:163755571..163762023-chr6:163831891..163837157,6	MCF-7	breast:
5	chr6:163757896..163760585-chr6:163774528..163776997,2	MCF-7	breast:
6	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-2	chr6:163759374-163760555	XLOC_005909

No data

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11759068	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11964527	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12662804	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12664344	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3734284	0.89[EUR][1000 genomes]
rs4709704	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4709705	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709706	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709707	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709708	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709709	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56654356	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62428053	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62430070	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430072	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430073	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430074	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932137	0.99[ASN][1000 genomes]
rs6932471	0.99[ASN][1000 genomes]
rs882246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
3	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
4	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
5	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:163754200-163760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:163754400-163760400	Enhancers	Fetal Muscle Trunk	muscle
8	chr6:163754600-163760200	Enhancers	Left Ventricle	heart
9	chr6:163754600-163760800	Enhancers	Fetal Muscle Leg	muscle
10	chr6:163755000-163760200	Enhancers	Lung	lung
11	chr6:163755400-163759800	Enhancers	Brain Angular Gyrus	brain
12	chr6:163756200-163759800	Weak transcription	Fetal Kidney	kidney
13	chr6:163756800-163759800	Weak transcription	NHDF-Ad	bronchial
14	chr6:163756800-163759800	Weak transcription	Osteobl	bone
15	chr6:163756800-163764800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:163757000-163759600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:163757200-163759800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:163757200-163759800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:163757200-163759800	Weak transcription	Fetal Thymus	thymus
20	chr6:163757400-163759600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:163757400-163759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:163757400-163762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:163757600-163759800	Weak transcription	Fetal Lung	lung
24	chr6:163757800-163759600	Weak transcription	Placenta	Placenta
25	chr6:163757800-163760000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:163758000-163764200	Weak transcription	Spleen	Spleen
27	chr6:163758200-163759800	Weak transcription	Right Atrium	heart
28	chr6:163758200-163760000	Weak transcription	Adipose Nuclei	Adipose
29	chr6:163758800-163760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:163758800-163760200	Enhancers	Psoas Muscle	Psoas
31	chr6:163758800-163760200	Enhancers	Right Ventricle	heart
32	chr6:163758800-163760200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:163758800-163762600	Enhancers	HSMMtube	muscle
34	chr6:163759000-163759800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:163759000-163760200	Enhancers	Esophagus	oesophagus
36	chr6:163759000-163760200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:163759000-163760400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:163759000-163760600	Flanking Active TSS	Fetal Heart	heart
39	chr6:163759000-163760800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:163759000-163760800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:163759000-163768400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:163759200-163759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:163759200-163759800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:163759200-163760200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:163759200-163765200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:163759400-163759800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr6:163759400-163760200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:163759400-163760200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:163759400-163760200	Enhancers	Rectal Smooth Muscle	rectum
50	chr6:163759400-163760400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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