Variant report

Variant	rs534091231
Chromosome Location	chr13:50512702-50512703
allele	A/G
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	NFYB	chr13:50512431-50512884	GM12878	blood:	n/a	n/a
2	SPI1	chr13:50512285-50513016	GM12878	blood:	n/a	n/a
3	RUNX3	chr13:50512318-50512833	GM12878	blood:	n/a	n/a
4	CREB1	chr13:50512316-50512795	GM12878	blood:	n/a	n/a
5	SPI1	chr13:50512486-50512708	K562	blood:	n/a	n/a
6	SPI1	chr13:50512347-50512843	GM12891	blood:	n/a	n/a
7	MEF2A	chr13:50512481-50512876	GM12878	blood:	n/a	n/a
8	SRF	chr13:50512490-50512797	GM12878	blood:	n/a	chr13:50512653-50512671
9	FOXM1	chr13:50512326-50512848	GM12878	blood:	n/a	n/a
10	SPI1	chr13:50512401-50512757	GM12878	blood:	n/a	n/a
11	SPI1	chr13:50512368-50512727	GM12891	blood:	n/a	n/a
12	TBP	chr13:50512440-50512891	GM12878	blood:	n/a	n/a
13	ATF2	chr13:50512307-50512772	GM12878	blood:	n/a	n/a
14	SRF	chr13:50512568-50512712	HepG2	liver:	n/a	chr13:50512653-50512671
15	SPI1	chr13:50512378-50512705	HL-60	blood:	n/a	n/a
16	MXI1	chr13:50512404-50512760	GM12878	blood:	n/a	n/a
17	TCF12	chr13:50512559-50512759	GM12878	blood:	n/a	n/a
18	SPI1	chr13:50512312-50512834	HL-60	blood:	n/a	n/a
19	FOXA2	chr13:50512630-50512868	HepG2	liver:	n/a	n/a
20	MYC	chr13:50512494-50512712	NB4	blood:	n/a	n/a
21	SRF	chr13:50512519-50512766	GM12878	blood:	n/a	chr13:50512653-50512671
22	RUNX3	chr13:50512403-50512779	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:50512326-50512760	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM13-7	chr13:50510782-50513292	NONHSAT033768
2	lnc-TRIM13-7	chr13:50511944-50513226	NONHSAT033769

Variant related genes	Relation type
SPRYD7	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1836423	chr13:50509784-50514706	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1836704	chr13:50509784-50514706	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1838605	chr13:50509784-50514706	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1834429	chr13:50509784-50536186	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2645198	chr13:50512407-50515030	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2511327	chr13:50512530-50515645	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50513000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
3	chr13:50511600-50512800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:50511600-50512800	Weak transcription	NHLF	lung
5	chr13:50511600-50513000	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:50511600-50513000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:50511600-50513000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:50511600-50513000	Weak transcription	Fetal Kidney	kidney
9	chr13:50511600-50513400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:50511600-50513400	Enhancers	Brain Anterior Caudate	brain
11	chr13:50511600-50513800	Enhancers	HepG2	liver
12	chr13:50511600-50514600	Enhancers	Fetal Intestine Large	intestine
13	chr13:50511600-50517800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:50511800-50512800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:50511800-50512800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:50511800-50513200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:50511800-50513400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:50511800-50514200	Enhancers	Fetal Intestine Small	intestine
19	chr13:50512000-50512800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr13:50512200-50512800	Enhancers	Pancreas	Pancrea
21	chr13:50512200-50513200	Weak transcription	Fetal Heart	heart
22	chr13:50512200-50514000	Enhancers	Adipose Nuclei	Adipose
23	chr13:50512400-50512800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr13:50512400-50512800	Enhancers	Fetal Muscle Leg	muscle
25	chr13:50512400-50513000	Enhancers	Colonic Mucosa	Colon
26	chr13:50512400-50513000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr13:50512600-50512800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr13:50512600-50513000	Enhancers	Liver	Liver
29	chr13:50512600-50513000	Weak transcription	Brain Germinal Matrix	brain
30	chr13:50512600-50513400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:50512600-50513400	Enhancers	Esophagus	oesophagus
32	chr13:50512600-50513400	Enhancers	Ovary	ovary
33	chr13:50512600-50514200	Enhancers	Fetal Lung	lung
34	chr13:50512600-50514400	Weak transcription	HSMMtube	muscle
35	chr13:50512600-50515600	Weak transcription	Stomach Mucosa	stomach

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