Variant report

Variant	rs2143070
Chromosome Location	chr6:163773424-163773425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163765676..163767710-chr6:163771048..163773547,3	K562	blood:
2	chr6:163772638..163774453-chr6:163775997..163777514,2	K562	blood:
3	chr6:163769098..163771002-chr6:163773045..163775280,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13194411	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6901488	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905064	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6920269	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6931196	0.85[ASN][1000 genomes]
rs735751	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs878423	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs878424	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs9346957	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9347741	0.87[ASN][1000 genomes]
rs9347742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347743	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9355427	1.00[GIH][hapmap];0.88[MKK][hapmap]
rs9365560	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9365561	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
2	chr6:163765000-163774000	Weak transcription	Spleen	Spleen
3	chr6:163767600-163776200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:163767600-163776600	Enhancers	Brain Cingulate Gyrus	brain
5	chr6:163768200-163775600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:163768200-163776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:163768200-163776400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:163768400-163775800	Weak transcription	Right Atrium	heart
9	chr6:163768600-163773800	Weak transcription	HUVEC	blood vessel
10	chr6:163768600-163775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:163768600-163775200	Weak transcription	Right Ventricle	heart
12	chr6:163768600-163775800	Weak transcription	Esophagus	oesophagus
13	chr6:163768800-163774000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:163769000-163775000	Weak transcription	Hela-S3	cervix
15	chr6:163769000-163776000	Weak transcription	Psoas Muscle	Psoas
16	chr6:163770400-163775200	Weak transcription	HSMMtube	muscle
17	chr6:163770400-163775600	Weak transcription	HSMM	muscle
18	chr6:163770600-163773600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:163770600-163775800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:163770600-163775800	Weak transcription	Left Ventricle	heart
21	chr6:163770800-163773600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:163770800-163775000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:163770800-163775000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:163770800-163775200	Weak transcription	NH-A	brain
25	chr6:163770800-163775200	Weak transcription	NHDF-Ad	bronchial
26	chr6:163771000-163773600	Enhancers	Brain Anterior Caudate	brain
27	chr6:163771000-163775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:163771200-163773800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:163771200-163776000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:163771600-163775000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:163772200-163778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:163772200-163778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:163772400-163773600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:163772400-163778800	Enhancers	Placenta	Placenta
35	chr6:163772600-163775000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:163772600-163775000	Weak transcription	Fetal Heart	heart
37	chr6:163772600-163775800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:163772800-163774000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:163773200-163774400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr6:163773400-163773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:163773400-163773800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:163773400-163774000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:163773400-163774200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:163773400-163774400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:163773400-163775200	Weak transcription	Fetal Lung	lung
46	chr6:163773400-163776800	Enhancers	Brain Angular Gyrus	brain
47	chr6:163773400-163777600	Enhancers	Fetal Muscle Leg	muscle

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