Variant report

Variant	rs73402976
Chromosome Location	chr6:28510471-28510472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28439477..28442256-chr6:28509445..28511862,2	K562	blood:
2	chr6:28463594..28464468-chr6:28509984..28510682,3	MCF-7	breast:
3	chr6:28361357..28362258-chr6:28510286..28511051,2	MCF-7	breast:
4	chr6:28508365..28512579-chr6:28582414..28584502,4	K562	blood:
5	chr6:28475480..28477562-chr6:28509551..28511332,2	K562	blood:
6	chr6:28510237..28512040-chr6:28576892..28578404,2	K562	blood:
7	chr6:28508469..28511332-chr6:28520528..28524271,3	K562	blood:
8	chr6:28510221..28512274-chr6:28527181..28528821,2	K562	blood:
9	chr6:28508315..28510538-chr6:28538499..28540306,2	K562	blood:
10	chr6:28493448..28495135-chr6:28508813..28510667,2	K562	blood:
11	chr6:28508020..28511004-chr6:28575052..28576613,2	K562	blood:
12	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
13	chr6:28317772..28319708-chr6:28509467..28511768,2	K562	blood:
14	chr6:28507775..28510636-chr6:28641558..28643450,2	K562	blood:
15	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
16	chr6:28508618..28512579-chr6:28580487..28584134,6	K562	blood:
17	chr6:28510133..28512590-chr6:28554507..28556682,2	MCF-7	breast:
18	chr6:28470071..28472229-chr6:28510465..28513041,2	K562	blood:
19	chr6:28510407..28512273-chr6:28513492..28515889,2	K562	blood:
20	chr6:28509014..28511009-chr6:28516572..28518393,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232040	Chromatin interaction
ENSG00000224586	Chromatin interaction
ENSG00000246350	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11753292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754112	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757235	1.00[ASN][1000 genomes]
rs11758822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111360	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1319076	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28382587	1.00[ASN][1000 genomes]
rs2893967	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34211304	1.00[ASN][1000 genomes]
rs34560199	1.00[ASN][1000 genomes]
rs34668037	1.00[ASN][1000 genomes]
rs3886843	1.00[ASN][1000 genomes]
rs4435933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56958518	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73391123	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402978	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404961	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73404965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73407134	0.84[AFR][1000 genomes]
rs73407157	0.88[AFR][1000 genomes]
rs73407159	0.88[AFR][1000 genomes]
rs73409121	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73409125	1.00[ASN][1000 genomes]
rs73409140	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7738979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770993	0.84[AFR][1000 genomes]
rs7774808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	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
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv435838	chr6:28507880-28514263	Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28509600-28512800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:28509800-28511800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:28509800-28512200	Active TSS	A549	lung
4	chr6:28509800-28512600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:28509800-28512600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:28509800-28512600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:28509800-28512600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:28509800-28512800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:28509800-28512800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:28509800-28512800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:28510000-28510600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:28510000-28510600	Active TSS	Fetal Stomach	stomach
13	chr6:28510000-28510800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:28510000-28511000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:28510000-28511000	Active TSS	Placenta	Placenta
16	chr6:28510000-28511200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:28510000-28512000	Active TSS	Fetal Intestine Small	intestine
18	chr6:28510000-28512200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:28510000-28512200	Active TSS	Fetal Intestine Large	intestine
20	chr6:28510000-28512400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:28510000-28512400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:28510000-28512400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:28510000-28512400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:28510000-28512600	Active TSS	Fetal Kidney	kidney
25	chr6:28510000-28512800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:28510200-28510600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:28510200-28510600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:28510200-28510600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr6:28510200-28510600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr6:28510200-28510600	Active TSS	Primary hematopoietic stem cells	blood
31	chr6:28510200-28510600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:28510200-28510600	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr6:28510200-28510600	ZNF genes & repeats	Right Atrium	heart
34	chr6:28510200-28510600	Flanking Active TSS	HepG2	liver
35	chr6:28510200-28510800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:28510200-28510800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr6:28510200-28510800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr6:28510200-28510800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
39	chr6:28510200-28511000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr6:28510200-28511000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:28510200-28511000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr6:28510200-28511000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr6:28510200-28511000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr6:28510200-28511000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr6:28510200-28511000	Active TSS	Rectal Smooth Muscle	rectum
46	chr6:28510200-28511000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr6:28510200-28511000	Active TSS	Hela-S3	cervix
48	chr6:28510200-28511200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:28510200-28511200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:28510200-28511200	Active TSS	Placenta Amnion	Placenta Amnion

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