Variant report

Variant	rs1801460
Chromosome Location	chr6:80749972-80749973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80717752..80719460-chr6:80749306..80750878,2	K562	blood:

Extended variants
information (count: 34 )
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]
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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62405995	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[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:5 , 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	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886306	chr6:80724666-80754346	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
3	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
4	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
5	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
15	chr6:80722200-80755400	Strong transcription	Dnd41	blood
16	chr6:80723600-80752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
18	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:80732800-80750200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
27	chr6:80738800-80753400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:80740200-80753600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
30	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:80742400-80755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:80743200-80751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:80743400-80752400	Weak transcription	HepG2	liver
39	chr6:80743600-80750400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:80744400-80750400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:80744600-80758200	Weak transcription	NHEK	skin
42	chr6:80744800-80752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:80745200-80750200	Weak transcription	GM12878-XiMat	blood
44	chr6:80745800-80750400	Weak transcription	Osteobl	bone
45	chr6:80745800-80754600	Weak transcription	Fetal Intestine Large	intestine
46	chr6:80746600-80753000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:80747000-80750400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:80747000-80755000	Weak transcription	Fetal Lung	lung
49	chr6:80747400-80750600	Weak transcription	NHDF-Ad	bronchial
50	chr6:80748200-80750000	Weak transcription	NH-A	brain

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