Variant report

Variant	rs73402305
Chromosome Location	chr6:33393583-33393584
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr15:45458745..45459668-chr6:33393132..33393783,2	NB4	blood:
3	chr6:33263619..33269524-chr6:33392449..33400505,13	K562	blood:
4	chr6:33283041..33291527-chr6:33390658..33398493,18	K562	blood:
5	chr6:33247444..33248283-chr6:33393491..33394336,2	K562	blood:
6	chr6:33265554..33267535-chr6:33391343..33393762,3	MCF-7	breast:
7	chr6:33392300..33395210-chr6:33647730..33650382,2	MCF-7	breast:
8	chr6:33238574..33240748-chr6:33393246..33395799,2	MCF-7	breast:
9	chr6:32939106..32941739-chr6:33393311..33396155,4	K562	blood:
10	chr6:33358784..33359323-chr6:33392967..33394283,4	MCF-7	breast:
11	chr6:33238168..33246812-chr6:33390354..33398427,26	K562	blood:
12	chr6:33280655..33282668-chr6:33393419..33397905,7	K562	blood:
13	chr6:33391956..33393823-chr6:33421563..33424082,3	MCF-7	breast:
14	chr6:33215214..33217895-chr6:33392172..33395839,3	K562	blood:
15	chr6:33368532..33370764-chr6:33391909..33394175,2	K562	blood:
16	chr6:33391776..33394053-chr6:35434999..35437784,2	K562	blood:
17	chr6:32936581..32938342-chr6:33393160..33395654,2	K562	blood:
18	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
19	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
20	chr6:33392146..33394863-chr6:33415963..33418099,3	MCF-7	breast:
21	chr6:33290638..33292833-chr6:33392448..33395188,2	MCF-7	breast:
22	chr6:33393178..33393823-chr8:33370643..33371164,2	Hela-S3	cervix:
23	chr6:33247162..33252016-chr6:33391295..33394759,5	K562	blood:
24	chr6:33237732..33247113-chr6:33390735..33401356,31	K562	blood:
25	chr6:33356676..33362230-chr6:33391756..33396223,11	K562	blood:
26	chr6:33391848..33395045-chr6:33544542..33547433,3	MCF-7	breast:
27	chr6:33393221..33396330-chr6:33404523..33406240,3	MCF-7	breast:
28	chr6:33358710..33359548-chr6:33393381..33394582,6	K562	blood:
29	chr6:33358171..33361215-chr6:33389565..33394982,4	MCF-7	breast:
30	chr6:33392424..33395335-chr6:33538728..33540669,5	K562	blood:
31	chr6:33358598..33359590-chr6:33393412..33394336,4	MCF-7	breast:
32	chr6:33393532..33395218-chr6:33409993..33412120,3	MCF-7	breast:
33	chr6:33255941..33258680-chr6:33391725..33394114,2	MCF-7	breast:
34	chr6:33357915..33361861-chr6:33392313..33395065,5	K562	blood:
35	chr6:33290123..33290636-chr6:33393252..33393968,2	K562	blood:
36	chr6:33392315..33397649-chr6:33418358..33425832,9	K562	blood:
37	chr6:33283215..33284795-chr6:33393304..33395284,2	MCF-7	breast:
38	chr6:33166624..33169904-chr6:33392182..33394773,3	K562	blood:
39	chr6:33171898..33174531-chr6:33393519..33397558,3	K562	blood:
40	chr6:33263595..33269524-chr6:33390524..33397848,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112473	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000264085	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000227057	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56957947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57206692	0.84[AFR][1000 genomes]
rs57745261	0.81[AFR][1000 genomes]
rs57991968	0.84[AFR][1000 genomes]
rs58287097	0.82[AFR][1000 genomes]
rs59507163	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60023810	1.00[AMR][1000 genomes]
rs6901048	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402303	0.84[AFR][1000 genomes]
rs73402312	0.85[AFR][1000 genomes]
rs73402320	0.85[AFR][1000 genomes]
rs73412030	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469425	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3425065	chr6:33392374-33395872	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
7	esv3329984	chr6:33392649-33396572	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
8	esv3357314	chr6:33393074-33395422	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33392000-33394400	Flanking Active TSS	Dnd41	blood
2	chr6:33392600-33393600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:33392600-33394800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:33392600-33394800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:33392600-33394800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:33392600-33395600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:33392800-33393600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:33392800-33393800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:33392800-33394000	Flanking Active TSS	Placenta	Placenta
10	chr6:33392800-33394400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:33392800-33395600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:33392800-33396200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:33392800-33396600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:33393000-33393600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:33393000-33394000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33393000-33394200	Active TSS	Aorta	Aorta
17	chr6:33393000-33394200	Active TSS	Small Intestine	intestine
18	chr6:33393000-33394400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:33393000-33394400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:33393000-33394400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:33393000-33394400	Active TSS	Ovary	ovary
22	chr6:33393000-33394800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:33393000-33394800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:33393000-33394800	Active TSS	Fetal Kidney	kidney
25	chr6:33393000-33394800	Active TSS	HSMM	muscle
26	chr6:33393000-33395000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:33393000-33395000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:33393000-33396400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:33393200-33393600	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:33393200-33393800	Active TSS	Fetal Muscle Leg	muscle
31	chr6:33393200-33394000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:33393200-33394000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:33393200-33394000	Active TSS	Gastric	stomach
34	chr6:33393200-33394000	Active TSS	Lung	lung
35	chr6:33393200-33394000	Active TSS	Stomach Mucosa	stomach
36	chr6:33393200-33394000	Active TSS	Hela-S3	cervix
37	chr6:33393200-33394200	Active TSS	Fetal Brain Female	brain
38	chr6:33393200-33394200	Active TSS	Fetal Lung	lung
39	chr6:33393200-33394200	Active TSS	Fetal Stomach	stomach
40	chr6:33393200-33394200	Active TSS	Pancreas	Pancrea
41	chr6:33393200-33394200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr6:33393200-33394200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr6:33393200-33394400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:33393200-33394400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:33393200-33394400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:33393200-33394400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:33393200-33394400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:33393200-33394400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:33393200-33394400	Active TSS	Duodenum Mucosa	Duodenum
50	chr6:33393200-33394400	Active TSS	Esophagus	oesophagus

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