Variant report

Variant	rs733839
Chromosome Location	chr6:29718094-29718095
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29718093-29718143	HRCEpiC	kidney:	n/a
2	chr6:29718093-29718143	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:29718049-29718099	HAEpiC	amniotic membrane:	n/a
4	chr6:29718093-29718143	NH-A	brain:	n/a
5	chr6:29718093-29718143	LNCaP	prostate:	n/a
6	chr6:29718093-29718143	H1-hESC	embryonic stem cell:	embryo
7	chr6:29718049-29718099	AG04450	lung:	fetal
8	chr6:29718049-29718099	ovcar-3	ovarian:	n/a
9	chr6:29718049-29718099	LNCaP	prostate:	n/a
10	chr6:29718049-29718099	PFSK-1	brain:	n/a
11	chr6:29718049-29718099	NHBE	bronchial:	n/a
12	chr6:29718093-29718143	AG09319	gingival:	n/a
13	chr6:29718049-29718099	PrEC	prostate:	n/a
14	chr6:29718093-29718143	PrEC	prostate:	n/a
15	chr6:29718049-29718099	K562	blood:	n/a
16	chr6:29718093-29718143	SK-N-SH_RA	brain:	n/a
17	chr6:29718093-29718143	HL-60	blood:	n/a
18	chr6:29718093-29718143	HIPEpiC	eye:	n/a
19	chr6:29718093-29718143	AG10803	skin:	n/a
20	chr6:29718049-29718099	IMR90	lung:	fetal
21	chr6:29718049-29718099	Caco-2	colon:	n/a
22	chr6:29718093-29718143	HMEC	breast:	n/a
23	chr6:29718049-29718099	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:29718093-29718143	AG04450	lung:	fetal
25	chr6:29718049-29718099	AoSMC	blood vessel:	n/a
26	chr6:29718049-29718099	Jurkat	blood:	n/a
27	chr6:29718093-29718143	K562	blood:	n/a
28	chr6:29718093-29718143	RPTEC	kidney:	n/a
29	chr6:29718093-29718143	MCF10A-Er-Src	breast:	n/a
30	chr6:29718093-29718143	Hepatocyte	liver:	n/a
31	chr6:29718049-29718099	GM12891	blood:	n/a
32	chr6:29718093-29718143	SAEC	small airway:	n/a
33	chr6:29718093-29718143	SKMC	muscle:	n/a
34	chr6:29718049-29718099	BE2_C	brain:	n/a
35	chr6:29718093-29718143	HepG2	liver:	n/a
36	chr6:29718093-29718143	GM12878	blood:	n/a
37	chr6:29718093-29718143	SK-N-SH	brain:	n/a
38	chr6:29718093-29718143	MCF-7	breast:	n/a
39	chr6:29718093-29718143	HRE	kidney:	n/a
40	chr6:29718049-29718099	HL-60	blood:	n/a
41	chr6:29718049-29718099	T-47D	breast:	n/a
42	chr6:29718049-29718099	HCF	heart:	n/a
43	chr6:29718049-29718099	AG09319	gingival:	n/a
44	chr6:29718049-29718099	HCT-116	colon:	n/a
45	chr6:29718049-29718099	SKMC	muscle:	n/a
46	chr6:29718049-29718099	ProgFib	skin:	n/a
47	chr6:29718049-29718099	GM12878	blood:	n/a
48	chr6:29718093-29718143	AG09309	skin:	n/a
49	chr6:29718049-29718099	HIPEpiC	eye:	n/a
50	chr6:29718093-29718143	PANC-1	pancreas:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29595494..29598412-chr6:29717928..29720060,2	K562	blood:
2	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:

No data

Variant related genes	Relation type
MICE	CpG island
HLA-F-AS1	CpG island
ENSG00000199290	CpG island
ENSG00000204681	Chromatin interaction
ENSG00000272236	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1610624	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610735	0.81[ASN][1000 genomes]
rs1611296	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1625695	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633044	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1633081	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1633082	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633083	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633086	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1633087	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633090	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737076	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737078	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737086	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713243	0.90[ASN][1000 genomes]
rs4947236	0.90[ASN][1000 genomes]
rs6910944	0.81[ASN][1000 genomes]
rs9258275	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv969373	chr6:29717694-29719688	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29717000-29720000	Enhancers	Spleen	Spleen
2	chr6:29717200-29718200	Enhancers	Esophagus	oesophagus
3	chr6:29717200-29719600	Weak transcription	HSMM	muscle
4	chr6:29717400-29718200	Enhancers	Liver	Liver
5	chr6:29717400-29719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:29717400-29719400	Weak transcription	Lung	lung
7	chr6:29717400-29719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:29717400-29719600	Weak transcription	A549	lung
9	chr6:29717400-29719600	Weak transcription	HUVEC	blood vessel
10	chr6:29717400-29719800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:29717400-29719800	Enhancers	Left Ventricle	heart
12	chr6:29717400-29719800	Weak transcription	HSMMtube	muscle
13	chr6:29717400-29719800	Weak transcription	Osteobl	bone
14	chr6:29717400-29720000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:29717400-29720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:29717600-29718200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:29717600-29718200	Enhancers	Right Atrium	heart
18	chr6:29717600-29719400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:29717600-29719400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:29717600-29719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:29717600-29719400	Weak transcription	NHLF	lung
22	chr6:29717600-29719600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:29717600-29719600	Weak transcription	Hela-S3	cervix
24	chr6:29717600-29719800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:29717600-29719800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:29717600-29719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:29717600-29719800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:29717600-29719800	Weak transcription	Colonic Mucosa	Colon
29	chr6:29717600-29719800	Weak transcription	Psoas Muscle	Psoas
30	chr6:29717600-29719800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:29717600-29719800	Enhancers	Right Ventricle	heart
32	chr6:29717600-29719800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:29717600-29719800	Weak transcription	Stomach Mucosa	stomach
34	chr6:29717600-29719800	Weak transcription	NHEK	skin
35	chr6:29717600-29720000	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:29717600-29720200	Weak transcription	Gastric	stomach
37	chr6:29717800-29718200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:29717800-29719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:29717800-29719400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:29717800-29719400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:29717800-29719400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:29717800-29719400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:29717800-29719400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:29717800-29719400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:29717800-29719400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:29717800-29719400	Weak transcription	HMEC	breast
47	chr6:29717800-29719400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:29717800-29719400	Weak transcription	NHDF-Ad	bronchial
49	chr6:29717800-29719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:29717800-29719600	Weak transcription	Rectal Smooth Muscle	rectum

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