Variant report

Variant	rs9392640
Chromosome Location	chr6:4919385-4919386
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4919261..4921849-chr6:4923274..4924943,2	K562	blood:
2	chr6:4912937..4915040-chr6:4916951..4919772,2	MCF-7	breast:
3	chr6:4916273..4918600-chr6:4919127..4921256,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1891045	0.87[EUR][1000 genomes]
rs1891046	0.80[ASN][1000 genomes]
rs2179269	0.89[AMR][1000 genomes]
rs3930304	0.97[ASN][1000 genomes]
rs4144546	0.92[ASN][1000 genomes]
rs4960046	0.87[EUR][1000 genomes]
rs4960049	0.93[ASN][1000 genomes]
rs62384662	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62384663	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62384665	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62386575	0.89[AMR][1000 genomes]
rs62386578	0.89[AMR][1000 genomes]
rs62386584	0.94[AMR][1000 genomes]
rs62386585	0.94[AMR][1000 genomes]
rs62386587	0.89[AMR][1000 genomes]
rs62386590	0.89[AMR][1000 genomes]
rs62386591	0.94[AMR][1000 genomes]
rs62386593	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62386594	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62386612	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62386614	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6904931	0.94[ASN][1000 genomes]
rs6910368	0.85[CEU][hapmap]
rs6918626	0.85[CEU][hapmap];0.89[AMR][1000 genomes]
rs6924037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7738275	0.97[ASN][1000 genomes]
rs7738459	0.97[ASN][1000 genomes]
rs7739834	0.97[ASN][1000 genomes]
rs7759221	0.97[ASN][1000 genomes]
rs7770206	0.97[ASN][1000 genomes]
rs7771387	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs808608	0.88[EUR][1000 genomes]
rs9378917	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9378918	0.94[ASN][1000 genomes]
rs9378919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9378920	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9392068	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs9392641	0.87[ASN][1000 genomes]
rs9405786	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4905800-4931200	Weak transcription	HepG2	liver
2	chr6:4907600-4925200	Weak transcription	Fetal Heart	heart
3	chr6:4908000-4935600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:4908200-4934800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:4908800-4920800	Weak transcription	Thymus	Thymus
6	chr6:4908800-4924400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:4911000-4930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:4911000-4935200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:4912800-4931200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:4913200-4936000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:4913200-4941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:4913600-4938000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:4914000-4930600	Weak transcription	A549	lung
14	chr6:4914800-4920200	Weak transcription	K562	blood
15	chr6:4914800-4920800	Weak transcription	Colonic Mucosa	Colon
16	chr6:4914800-4922200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:4914800-4924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:4914800-4930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:4914800-4930400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:4915000-4921200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:4915000-4921400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:4915000-4921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:4915000-4922000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:4915000-4929800	Weak transcription	Hela-S3	cervix
25	chr6:4915200-4921800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:4915200-4922000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:4915200-4925000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:4915200-4931600	Weak transcription	Esophagus	oesophagus
29	chr6:4915400-4920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:4915400-4920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:4915400-4921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:4915400-4922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:4915400-4922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:4915400-4922200	Weak transcription	Lung	lung
35	chr6:4915400-4922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:4915400-4927000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:4915400-4927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:4915400-4928600	Weak transcription	HMEC	breast
39	chr6:4915400-4930200	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:4915400-4930600	Weak transcription	Gastric	stomach
41	chr6:4915400-4931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:4915400-4931800	Weak transcription	Pancreas	Pancrea
43	chr6:4915600-4921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:4915600-4931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:4915600-4931200	Weak transcription	NHEK	skin
46	chr6:4915800-4921200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:4915800-4928200	Weak transcription	HSMMtube	muscle
48	chr6:4915800-4928400	Weak transcription	NH-A	brain
49	chr6:4915800-4928400	Weak transcription	Osteobl	bone
50	chr6:4915800-4930000	Weak transcription	Colon Smooth Muscle	Colon

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