Variant report

Variant	rs187116593
Chromosome Location	chr13:86373760-86373761
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr13:86373396-86373811	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr13:86373620-86373770	AG04450	lung:	n/a	n/a
3	POLR2A	chr13:86373207-86373873	H1-neurons	neurons:	n/a	n/a
4	RAD21	chr13:86373352-86373832	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr13:86373406-86373817	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr13:86373640-86373790	HPAF	blood vessel:	n/a	n/a
7	MYC	chr13:86373492-86373823	MCF10A-Er-Src	breast:	n/a	n/a
8	NR2F2	chr13:86373239-86373775	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr13:86373199-86373893	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:86373520-86373790	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr13:86373660-86373810	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:86373660-86373810	NHLF	lung:	n/a	n/a
13	POLR2A	chr13:86372679-86373989	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr13:86373218-86373809	HEK293	kidney:	n/a	n/a
15	GATA3	chr13:86373143-86373943	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr13:86373258-86373924	MCF-7	breast:	n/a	n/a
17	KAP1	chr13:86373229-86373846	U2OS	brain:	n/a	n/a
18	JUND	chr13:86373289-86373808	MCF-7	breast:	n/a	n/a
19	SP1	chr13:86373210-86373774	A549	lung:	n/a	n/a
20	GATA3	chr13:86373254-86373866	MCF-7	breast:	n/a	n/a
21	SRF	chr13:86373363-86373944	ECC-1	luminal epithelium:	n/a	chr13:86373699-86373712
22	CTCF	chr13:86373620-86373770	HRE	kidney:	n/a	n/a
23	TCF12	chr13:86373204-86373947	SK-N-SH	brain:	n/a	chr13:86373387-86373396 chr13:86373828-86373837
24	MYC	chr13:86373420-86373895	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr13:86373274-86373776	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr13:86373415-86373803	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr13:86373620-86373770	BJ	skin:	n/a	n/a
28	CTCF	chr13:86373540-86373764	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr13:86373620-86373770	Hela-S3	cervix:	n/a	n/a
30	GATA3	chr13:86373089-86373765	MCF-7	breast:	n/a	n/a
31	PBX3	chr13:86373139-86373900	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr13:86373537-86373766	Medullo	brain:	n/a	n/a
33	GATA3	chr13:86373198-86373887	SK-N-SH	brain:	n/a	n/a
34	PBX3	chr13:86373324-86373841	SK-N-SH	brain:	n/a	n/a
35	RAD21	chr13:86373351-86373916	A549	lung:	n/a	n/a
36	CTCF	chr13:86373465-86373820	IMR90	lung:	n/a	n/a
37	CTCF	chr13:86373640-86373790	HAc	cerebellar:	n/a	n/a
38	RAD21	chr13:86373265-86373872	MCF-7	breast:	n/a	n/a
39	POLR2A	chr13:86373217-86373797	SK-N-MC	brain:	n/a	n/a
40	RAD21	chr13:86373320-86373798	SK-N-SH_RA	brain:	n/a	n/a
41	RAD21	chr13:86372031-86374084	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr13:86373620-86373770	BE2_C	brain:	n/a	n/a
43	CTCF	chr13:86373474-86373818	GM12878	blood:	n/a	n/a
44	NFIC	chr13:86373179-86373946	SK-N-SH	brain:	n/a	n/a
45	RAD21	chr13:86373375-86373849	H1-hESC	embryonic stem cell:	n/a	n/a
46	SETDB1	chr13:86373491-86373939	U2OS	brain:	n/a	n/a
47	RAD21	chr13:86373418-86373848	A549	lung:	n/a	n/a
48	RAD21	chr13:86373387-86373784	IMR90	lung:	n/a	n/a

No data

Variant related genes	Relation type
SLITRK6	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1037563	chr13:85830511-86414012	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3437679	chr13:86373151-86376849	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86370800-86373800	Active TSS	Stomach Smooth Muscle	stomach
2	chr13:86371600-86373800	Active TSS	A549	lung
3	chr13:86372600-86373800	ZNF genes & repeats	Fetal Brain Male	brain
4	chr13:86372800-86373800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:86373000-86373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:86373000-86373800	Flanking Active TSS	Fetal Kidney	kidney
7	chr13:86373000-86373800	Enhancers	Stomach Mucosa	stomach
8	chr13:86373200-86373800	Enhancers	Brain Hippocampus Middle	brain
9	chr13:86373200-86373800	Enhancers	Colon Smooth Muscle	Colon
10	chr13:86373200-86373800	Enhancers	NH-A	brain
11	chr13:86373200-86374000	Enhancers	Hela-S3	cervix
12	chr13:86373400-86373800	Enhancers	Brain Angular Gyrus	brain
13	chr13:86373600-86373800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:86373600-86373800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:86373600-86373800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:86373600-86373800	Flanking Active TSS	Fetal Lung	lung
17	chr13:86373600-86373800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:86373600-86374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:86373600-86374000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:86373600-86374000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:86373600-86374000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:86373600-86374000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:86373600-86374000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:86373600-86374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:86373600-86374000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:86373600-86374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:86373600-86374000	Enhancers	NHEK	skin
28	chr13:86373600-86374600	Enhancers	HMEC	breast

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