Variant report

Variant	rs62405995
Chromosome Location	chr6:80755306-80755307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12524041	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12524658	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528075	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12528948	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529133	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550035	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17174951	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17175251	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17254389	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17254634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801465	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547972	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45495802	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4613770	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4642425	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55956173	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219628	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56302322	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62405965	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62405967	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62405999	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62406015	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62406016	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7765797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769377	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886307	chr6:80724666-80765111	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886308	chr6:80734870-80765111	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
4	chr6:80722200-80755400	Strong transcription	Dnd41	blood
5	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
9	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
10	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:80744600-80758200	Weak transcription	NHEK	skin
17	chr6:80748200-80756400	Weak transcription	Thymus	Thymus
18	chr6:80748200-80756600	Weak transcription	A549	lung
19	chr6:80748400-80758400	Weak transcription	HMEC	breast
20	chr6:80748400-80759200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:80749800-80757200	Strong transcription	Fetal Thymus	thymus
22	chr6:80751000-80758000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:80751000-80758200	Weak transcription	K562	blood
24	chr6:80751000-80758400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:80751000-80764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:80751000-80766200	Weak transcription	NHLF	lung
27	chr6:80751200-80756600	Weak transcription	GM12878-XiMat	blood
28	chr6:80751200-80758600	Weak transcription	NHDF-Ad	bronchial
29	chr6:80751800-80758600	Weak transcription	Hela-S3	cervix
30	chr6:80752800-80763400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:80753000-80757600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:80753200-80765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:80753200-80772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:80753400-80756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:80753400-80758600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr6:80753600-80756200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:80753600-80756400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:80753600-80756400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:80753600-80756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:80753600-80756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:80753600-80758200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:80753600-80758600	Weak transcription	HUVEC	blood vessel
43	chr6:80753600-80758600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:80753600-80765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:80753800-80756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:80753800-80756600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:80753800-80765800	Weak transcription	HSMM	muscle
48	chr6:80754400-80756400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:80754400-80756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:80754600-80756600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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