Variant report

Variant	rs62438673
Chromosome Location	chr6:167069902-167069903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1040446	0.81[EUR][1000 genomes]
rs16899289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2206124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2223407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3799568	0.80[AMR][1000 genomes]
rs4145432	0.89[AMR][1000 genomes]
rs4518470	0.83[EUR][1000 genomes]
rs58803664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60078955	0.83[EUR][1000 genomes]
rs61157638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62438677	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6935306	0.83[EUR][1000 genomes]
rs9348157	0.89[AMR][1000 genomes]
rs9348159	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9348160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9356499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364863	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366036	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1020888	chr6:167059455-167136562	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv538540	chr6:167059455-167136562	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2754464	chr6:167059528-167130749	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:167061800-167071000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:167061800-167071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:167064200-167079000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167068200-167070200	Enhancers	Brain Germinal Matrix	brain
5	chr6:167068200-167073600	Weak transcription	Fetal Heart	heart
6	chr6:167068800-167070800	Enhancers	Gastric	stomach
7	chr6:167068800-167070800	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr6:167068800-167071200	Enhancers	Pancreas	Pancrea
9	chr6:167069000-167077200	Weak transcription	Right Atrium	heart
10	chr6:167069200-167070200	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:167069200-167070800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:167069200-167073200	Enhancers	Spleen	Spleen
13	chr6:167069400-167070200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr6:167069400-167070200	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr6:167069400-167070400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr6:167069400-167070600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr6:167069400-167070800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:167069400-167070800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:167069400-167070800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:167069400-167070800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:167069400-167071200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:167069400-167071200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:167069600-167070000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr6:167069600-167070200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
25	chr6:167069600-167070400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:167069600-167070600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:167069600-167070600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr6:167069600-167070600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:167069600-167070800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:167069600-167070800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:167069600-167070800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr6:167069600-167070800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:167069600-167070800	Bivalent Enhancer	Fetal Brain Male	brain
34	chr6:167069800-167070000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:167069800-167070000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:167069800-167070000	Enhancers	Ovary	ovary
37	chr6:167069800-167070000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
38	chr6:167069800-167070200	Enhancers	Primary B cells from cord blood	blood
39	chr6:167069800-167070200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr6:167069800-167070200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:167069800-167070400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:167069800-167070400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:167069800-167070400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:167069800-167070400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:167069800-167070400	Bivalent Enhancer	Esophagus	oesophagus
46	chr6:167069800-167070400	Bivalent Enhancer	Fetal Brain Female	brain
47	chr6:167069800-167070400	Enhancers	Lung	lung
48	chr6:167069800-167070600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:167069800-167070800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr6:167069800-167070800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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