Variant report

Variant	rs17071686
Chromosome Location	chr13:48985639-48985640
allele	A/C
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	POLR2A	chr13:48985541-48985679	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr13:48985495-48985861	MCF10A-Er-Src	breast:	n/a	n/a

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

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4151431	1.00[AMR][1000 genomes]
rs61973347	1.00[AMR][1000 genomes]
rs9332000	1.00[CHD][hapmap]
rs9332306	1.00[CHD][hapmap]

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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48966400-48986000	Weak transcription	Lung	lung
2	chr13:48974600-48986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
4	chr13:48978400-48986000	Weak transcription	Esophagus	oesophagus
5	chr13:48978400-48989800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:48978800-48990400	Weak transcription	Spleen	Spleen
7	chr13:48981200-48987600	Active TSS	Right Atrium	heart
8	chr13:48982200-48987600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr13:48982400-48987200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:48983000-48987400	Active TSS	Brain Anterior Caudate	brain
11	chr13:48983000-48987600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:48983000-48987600	Active TSS	Brain Hippocampus Middle	brain
13	chr13:48983000-48987600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr13:48983000-48987800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:48983400-48987400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:48983400-48987600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:48983400-48987600	Active TSS	Fetal Muscle Leg	muscle
18	chr13:48983400-48987600	Active TSS	Psoas Muscle	Psoas
19	chr13:48983400-48987800	Active TSS	GM12878-XiMat	blood
20	chr13:48983600-48987200	Active TSS	Thymus	Thymus
21	chr13:48983600-48987600	Active TSS	Rectal Smooth Muscle	rectum
22	chr13:48983800-48987400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr13:48983800-48987400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr13:48983800-48987600	Active TSS	HMEC	breast
25	chr13:48984000-48987200	Active TSS	Fetal Thymus	thymus
26	chr13:48984000-48987400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr13:48984000-48987400	Active TSS	Liver	Liver
28	chr13:48984000-48987600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr13:48984200-48987000	Active TSS	Primary hematopoietic stem cells	blood
30	chr13:48984200-48987200	Active TSS	Duodenum Mucosa	Duodenum
31	chr13:48984200-48987200	Active TSS	Placenta	Placenta
32	chr13:48984200-48987400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:48984200-48987400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:48984200-48987400	Active TSS	Brain Substantia Nigra	brain
35	chr13:48984200-48987400	Active TSS	Colon Smooth Muscle	Colon
36	chr13:48984200-48987400	Active TSS	Fetal Stomach	stomach
37	chr13:48984200-48987400	Active TSS	Stomach Smooth Muscle	stomach
38	chr13:48984200-48987600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:48984200-48987600	Active TSS	Brain Cingulate Gyrus	brain
40	chr13:48984200-48987600	Active TSS	NHDF-Ad	bronchial
41	chr13:48984200-48987600	Active TSS	NHLF	lung
42	chr13:48984400-48986400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:48984400-48986800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr13:48984400-48987000	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr13:48984400-48987200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:48984400-48987200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr13:48984400-48987200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:48984400-48987400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr13:48984400-48987400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:48984400-48987600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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