Variant report

Variant	rs62430074
Chromosome Location	chr6:163759931-163759932
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163721882..163723526-chr6:163759692..163762187,2	K562	blood:
2	chr6:163743568..163746151-chr6:163758711..163760918,2	K562	blood:
3	chr6:163757980..163760301-chr6:163766336..163768728,2	K562	blood:
4	chr6:163755571..163762023-chr6:163831891..163837157,6	MCF-7	breast:
5	chr6:163759847..163762654-chr6:163834528..163837162,2	MCF-7	breast:
6	chr6:163757896..163760585-chr6:163774528..163776997,2	MCF-7	breast:
7	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-2	chr6:163759731-163760555	XLOC_005909
2	lnc-AL078585.1-2	chr6:163759374-163760555	XLOC_005909

No data

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10945892	0.80[AMR][1000 genomes]
rs11759068	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11964527	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12662804	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12664344	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3734284	0.83[EUR][1000 genomes]
rs4709704	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4709705	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709706	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709707	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709708	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709709	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56654356	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62428053	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62430070	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430071	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430072	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430073	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932137	0.99[ASN][1000 genomes]
rs6932471	0.99[ASN][1000 genomes]
rs882246	0.85[AMR][1000 genomes];0.92[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:65 , 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	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:163754200-163760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:163754400-163760400	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:163754600-163760200	Enhancers	Left Ventricle	heart
7	chr6:163754600-163760800	Enhancers	Fetal Muscle Leg	muscle
8	chr6:163755000-163760200	Enhancers	Lung	lung
9	chr6:163756800-163764800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:163757400-163762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:163757800-163760000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:163758000-163764200	Weak transcription	Spleen	Spleen
13	chr6:163758200-163760000	Weak transcription	Adipose Nuclei	Adipose
14	chr6:163758800-163760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:163758800-163760200	Enhancers	Psoas Muscle	Psoas
16	chr6:163758800-163760200	Enhancers	Right Ventricle	heart
17	chr6:163758800-163760200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr6:163758800-163762600	Enhancers	HSMMtube	muscle
19	chr6:163759000-163760200	Enhancers	Esophagus	oesophagus
20	chr6:163759000-163760200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:163759000-163760400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:163759000-163760600	Flanking Active TSS	Fetal Heart	heart
23	chr6:163759000-163760800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:163759000-163760800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:163759000-163768400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:163759200-163760200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:163759200-163765200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:163759400-163760200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:163759400-163760200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:163759400-163760200	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:163759400-163760400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:163759400-163760600	Enhancers	HUVEC	blood vessel
33	chr6:163759400-163760800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:163759400-163760800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr6:163759400-163762000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:163759600-163760000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:163759600-163760200	Enhancers	Placenta	Placenta
38	chr6:163759600-163760600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:163759600-163760600	Enhancers	Fetal Stomach	stomach
40	chr6:163759600-163760800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:163759600-163763000	Enhancers	HSMM	muscle
42	chr6:163759800-163760000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr6:163759800-163760000	Enhancers	Colon Smooth Muscle	Colon
44	chr6:163759800-163760000	Enhancers	NH-A	brain
45	chr6:163759800-163760200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:163759800-163760200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:163759800-163760200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr6:163759800-163760200	Enhancers	Fetal Thymus	thymus
49	chr6:163759800-163760400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr6:163759800-163760400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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