Variant report

Variant	rs6492943
Chromosome Location	chr15:40674474-40674475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:40674454-40675133	HepG2	liver:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
2	HCFC1	chr15:40674454-40676290	Hela-S3	cervix:	n/a	n/a
3	YY1	chr15:40674413-40675836	SK-N-SH	brain:	n/a	chr15:40675032-40675044
4	MXI1	chr15:40674404-40676344	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40674438-40674488	Hela-S3	cervix:	n/a
2	chr15:40674438-40674488	HCF	heart:	n/a
3	chr15:40674438-40674488	HRE	kidney:	n/a
4	chr15:40674438-40674488	HepG2	liver:	n/a
5	chr15:40674438-40674488	PANC-1	pancreas:	n/a
6	chr15:40674438-40674488	GM19239	blood:	n/a
7	chr15:40674438-40674488	SK-N-SH	brain:	n/a
8	chr15:40674438-40674488	HEK293	kidney:	embryo
9	chr15:40674438-40674488	AG04450	lung:	fetal
10	chr15:40674438-40674488	GM12878	blood:	n/a
11	chr15:40674438-40674488	HCT-116	colon:	n/a
12	chr15:40674438-40674488	MCF10A-Er-Src	breast:	n/a
13	chr15:40674438-40674488	NHBE	bronchial:	n/a
14	chr15:40674438-40674488	K562	blood:	n/a
15	chr15:40674438-40674488	AG10803	skin:	n/a
16	chr15:40674438-40674488	ECC-1	luminal epithelium:	n/a
17	chr15:40674438-40674488	LNCaP	prostate:	n/a
18	chr15:40674438-40674488	HMEC	breast:	n/a
19	chr15:40674438-40674488	HUVEC	blood vessel:	n/a
20	chr15:40674438-40674488	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:40674438-40674488	HIPEpiC	eye:	n/a
22	chr15:40674438-40674488	HEEpiC	esophagus:	n/a
23	chr15:40674438-40674488	BJ	skin:	n/a
24	chr15:40674438-40674488	HCPEpiC	choroid plexus:	n/a
25	chr15:40674438-40674488	AG09319	gingival:	n/a
26	chr15:40674438-40674488	Hepatocyte	liver:	n/a
27	chr15:40674438-40674488	HCM	heart:	n/a
28	chr15:40674438-40674488	NT2-D1	testis:	n/a
29	chr15:40674438-40674488	HL-60	blood:	n/a
30	chr15:40674438-40674488	HAEpiC	amniotic membrane:	n/a
31	chr15:40674438-40674488	SKMC	muscle:	n/a
32	chr15:40674438-40674488	HRCEpiC	kidney:	n/a
33	chr15:40674438-40674488	PrEC	prostate:	n/a
34	chr15:40674438-40674488	PFSK-1	brain:	n/a
35	chr15:40674438-40674488	T-47D	breast:	n/a
36	chr15:40674438-40674488	ProgFib	skin:	n/a
37	chr15:40674438-40674488	AoSMC	blood vessel:	n/a
38	chr15:40674438-40674488	HRPEpiC	eye:	n/a
39	chr15:40674438-40674488	U87	brain:	n/a
40	chr15:40674438-40674488	GM06990	blood:	n/a
41	chr15:40674438-40674488	GM12892	blood:	n/a
42	chr15:40674438-40674488	MCF-7	breast:	n/a
43	chr15:40674438-40674488	Jurkat	blood:	n/a
44	chr15:40674438-40674488	GM12891	blood:	n/a
45	chr15:40674438-40674488	ovcar-3	ovarian:	n/a
46	chr15:40674438-40674488	AG09309	skin:	n/a
47	chr15:40674438-40674488	Caco-2	colon:	n/a
48	chr15:40674438-40674488	NB4	blood:	n/a
49	chr15:40674438-40674488	BE2_C	brain:	n/a
50	chr15:40674438-40674488	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40674190..40678981-chr15:40695777..40699659,7	MCF-7	breast:
2	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:

No data

Variant related genes	Relation type
KNSTRN	TF binding region
KNSTRN	CpG island
ENSG00000259714	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11070254	1.00[EUR][1000 genomes]
rs11070255	1.00[EUR][1000 genomes]
rs12102172	1.00[EUR][1000 genomes]
rs12385956	1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs14363	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28485685	1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28565228	1.00[EUR][1000 genomes]
rs28637656	1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs28792493	1.00[EUR][1000 genomes]
rs28844897	1.00[EUR][1000 genomes]
rs28869227	1.00[EUR][1000 genomes]
rs34268290	1.00[AMR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57134155	1.00[EUR][1000 genomes]
rs58042425	1.00[EUR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs60743501	1.00[EUR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[EUR][1000 genomes]
rs7162308	1.00[EUR][1000 genomes]
rs7164094	1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7165233	1.00[EUR][1000 genomes]
rs7165670	1.00[EUR][1000 genomes]
rs7168197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7173239	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7176418	1.00[EUR][1000 genomes]
rs7178873	1.00[EUR][1000 genomes]
rs7182052	1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73383129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	1.00[EUR][1000 genomes]
rs73389492	1.00[EUR][1000 genomes]
rs73389520	1.00[EUR][1000 genomes]
rs73389531	1.00[EUR][1000 genomes]
rs73389536	1.00[EUR][1000 genomes]
rs73389540	1.00[EUR][1000 genomes]
rs73390146	1.00[EUR][1000 genomes]
rs73390155	1.00[EUR][1000 genomes]
rs73390162	1.00[EUR][1000 genomes]
rs73390167	1.00[EUR][1000 genomes]
rs73390168	1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs74011172	1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	1.00[EUR][1000 genomes]
rs8023956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025846	1.00[EUR][1000 genomes]
rs8026988	1.00[EUR][1000 genomes]
rs8033915	1.00[EUR][1000 genomes]
rs8034169	1.00[EUR][1000 genomes]
rs8038243	1.00[EUR][1000 genomes]
rs8039298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040231	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs9672893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806126	1.00[EUR][1000 genomes]
rs9806144	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
2	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
3	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
5	chr15:40665200-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:40665200-40674800	Weak transcription	Fetal Brain Female	brain
7	chr15:40665400-40674800	Weak transcription	Fetal Lung	lung
8	chr15:40668000-40674600	Weak transcription	Thymus	Thymus
9	chr15:40670000-40674800	Weak transcription	Aorta	Aorta
10	chr15:40671600-40674800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:40671800-40674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:40671800-40674800	Weak transcription	Psoas Muscle	Psoas
13	chr15:40672200-40674800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:40672200-40674800	Weak transcription	Left Ventricle	heart
15	chr15:40672400-40674800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:40672400-40674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:40672400-40674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:40672400-40674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:40672400-40674800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:40672400-40674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:40672400-40674800	Weak transcription	Gastric	stomach
22	chr15:40672400-40674800	Weak transcription	Spleen	Spleen
23	chr15:40672600-40674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:40672600-40674600	Weak transcription	Adipose Nuclei	Adipose
25	chr15:40672600-40674600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:40672600-40674600	Weak transcription	Fetal Heart	heart
27	chr15:40672600-40674600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:40672600-40674600	Weak transcription	Osteobl	bone
29	chr15:40672600-40674800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:40672600-40674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:40672600-40674800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:40672600-40674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:40672600-40674800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:40672600-40674800	Weak transcription	NH-A	brain
35	chr15:40672600-40675000	Weak transcription	HUVEC	blood vessel
36	chr15:40672800-40674600	Weak transcription	Placenta	Placenta
37	chr15:40672800-40674600	Weak transcription	NHLF	lung
38	chr15:40672800-40674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:40672800-40674800	Weak transcription	Stomach Mucosa	stomach
40	chr15:40673000-40674600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:40673000-40674600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:40673000-40674600	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:40673000-40674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:40673000-40674800	Weak transcription	HSMM	muscle
45	chr15:40673200-40674600	Weak transcription	HSMMtube	muscle
46	chr15:40673200-40674600	Weak transcription	NHDF-Ad	bronchial
47	chr15:40673200-40674600	Weak transcription	NHEK	skin
48	chr15:40673200-40674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:40673200-40674800	Weak transcription	HMEC	breast
50	chr15:40674000-40674600	Enhancers	K562	blood

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