Variant report

Variant	rs1319076
Chromosome Location	chr6:28662390-28662391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28622745..28624261-chr6:28661466..28664275,2	K562	blood:
2	chr6:28660970..28662889-chr6:28669119..28670853,2	K562	blood:
3	chr6:28660878..28662982-chr6:28701014..28703051,2	K562	blood:
4	chr6:28659445..28664236-chr6:28674743..28678587,5	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11753292	1.00[ASN][1000 genomes]
rs11754112	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754599	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11757235	1.00[ASN][1000 genomes]
rs11758822	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12110753	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12111360	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382587	1.00[ASN][1000 genomes]
rs2893967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211304	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34560199	1.00[ASN][1000 genomes]
rs34668037	1.00[ASN][1000 genomes]
rs3886843	1.00[ASN][1000 genomes]
rs4435933	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56958518	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73391123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402976	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402978	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402982	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402983	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73404961	0.88[AFR][1000 genomes]
rs73404965	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73407134	0.92[AFR][1000 genomes]
rs73407157	0.96[AFR][1000 genomes]
rs73407159	0.96[AFR][1000 genomes]
rs73409121	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409125	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409140	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738979	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7770993	0.92[AFR][1000 genomes]
rs7774808	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9791301	0.92[AFR][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	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28654200-28663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:28658200-28667400	Weak transcription	K562	blood
3	chr6:28660800-28662800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:28661000-28662400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:28661000-28662400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:28661000-28662400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:28661000-28662400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:28661000-28662400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr6:28661000-28662400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr6:28661000-28662800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:28661000-28665000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:28661200-28662400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:28661200-28662600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:28661200-28662600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr6:28661400-28662800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:28661600-28662400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr6:28661600-28662400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr6:28661600-28662400	Bivalent/Poised TSS	HSMMtube	muscle
19	chr6:28661600-28662600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr6:28661800-28662400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:28661800-28662400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:28661800-28662400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:28661800-28662400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr6:28661800-28662400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:28661800-28662400	Active TSS	Right Atrium	heart
26	chr6:28661800-28662400	Bivalent Enhancer	Right Ventricle	heart
27	chr6:28661800-28662600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr6:28661800-28662600	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr6:28662000-28662400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:28662000-28662400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr6:28662000-28662400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:28662000-28662400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:28662000-28662400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr6:28662000-28662400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:28662000-28662400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:28662000-28662400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr6:28662000-28662400	Bivalent Enhancer	Fetal Lung	lung
38	chr6:28662000-28662400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr6:28662000-28662400	Bivalent/Poised TSS	Osteobl	bone
40	chr6:28662000-28662600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr6:28662000-28662800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr6:28662000-28663000	Bivalent Enhancer	Fetal Heart	heart
43	chr6:28662200-28662400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr6:28662200-28662400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:28662200-28662400	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr6:28662200-28662400	Bivalent Enhancer	Fetal Stomach	stomach

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