Variant report

Variant	rs4151545
Chromosome Location	chr13:48984320-48984321
allele	C/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	FOXA1	chr13:48984311-48984759	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:48979509..48982464-chr13:48983015..48985946,2	MCF-7	breast:
2	chr13:48979885..48981623-chr13:48983630..48986045,2	K562	blood:
3	chr13:48984068..48985636-chr13:49106032..49107936,2	K562	blood:

Variant related genes	Relation type
LPAR6	TF binding region
ENSG00000139679	Chromatin interaction
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3092863	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151432	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151495	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7320277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329387	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7333971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8000807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002958	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331979	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331993	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332001	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332059	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9332073	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332286	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332306	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48966400-48986000	Weak transcription	Lung	lung
3	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:48974600-48986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:48975200-48985400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:48975600-48985200	Weak transcription	NH-A	brain
8	chr13:48976000-48984400	Weak transcription	HSMMtube	muscle
9	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
10	chr13:48977800-48984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:48977800-48984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:48978400-48984400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:48978400-48985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:48978400-48985400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:48978400-48986000	Weak transcription	Esophagus	oesophagus
16	chr13:48978400-48989800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:48978800-48990400	Weak transcription	Spleen	Spleen
18	chr13:48981200-48985400	Weak transcription	HSMM	muscle
19	chr13:48981200-48987600	Active TSS	Right Atrium	heart
20	chr13:48982200-48987600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:48982400-48987200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:48982600-48984600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr13:48983000-48984400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr13:48983000-48984400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr13:48983000-48985600	Active TSS	HepG2	liver
26	chr13:48983000-48987400	Active TSS	Brain Anterior Caudate	brain
27	chr13:48983000-48987600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:48983000-48987600	Active TSS	Brain Hippocampus Middle	brain
29	chr13:48983000-48987600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr13:48983000-48987800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr13:48983400-48987400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:48983400-48987600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:48983400-48987600	Active TSS	Fetal Muscle Leg	muscle
34	chr13:48983400-48987600	Active TSS	Psoas Muscle	Psoas
35	chr13:48983400-48987800	Active TSS	GM12878-XiMat	blood
36	chr13:48983600-48984400	Weak transcription	Aorta	Aorta
37	chr13:48983600-48987200	Active TSS	Thymus	Thymus
38	chr13:48983600-48987600	Active TSS	Rectal Smooth Muscle	rectum
39	chr13:48983800-48984800	Active TSS	Left Ventricle	heart
40	chr13:48983800-48987400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr13:48983800-48987400	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr13:48983800-48987600	Active TSS	HMEC	breast
43	chr13:48984000-48984400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr13:48984000-48984400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr13:48984000-48984600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:48984000-48984600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr13:48984000-48984600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr13:48984000-48984800	Flanking Active TSS	NHEK	skin
49	chr13:48984000-48985000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr13:48984000-48985000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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