Variant report

Variant	rs7164303
Chromosome Location	chr15:40674572-40674573
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr15:40674533-40675267	H1-hESC	embryonic stem cell:	n/a	chr15:40674946-40674955
2	YY1	chr15:40674543-40675341	SK-N-SH_RA	brain:	n/a	chr15:40675032-40675044
3	CEBPB	chr15:40674454-40675133	HepG2	liver:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
4	CEBPB	chr15:40674503-40675294	H1-hESC	embryonic stem cell:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
5	HCFC1	chr15:40674454-40676290	Hela-S3	cervix:	n/a	n/a
6	YY1	chr15:40674413-40675836	SK-N-SH	brain:	n/a	chr15:40675032-40675044
7	MXI1	chr15:40674498-40676294	SK-N-SH	brain:	n/a	n/a
8	MXI1	chr15:40674404-40676344	IMR90	lung:	n/a	n/a
9	GABPA	chr15:40674532-40675983	MCF-7	breast:	n/a	n/a

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:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55904487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57094441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59636068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60397708	1.00[AMR][1000 genomes]
rs74011146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011152	1.00[AMR][1000 genomes]
rs74011153	1.00[AMR][1000 genomes]
rs74013054	1.00[AMR][1000 genomes]
rs74013056	1.00[AMR][1000 genomes]
rs8040294	0.81[LWK][hapmap];0.95[MKK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041445	1.00[AMR][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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