Variant report

Variant	rs571337814
Chromosome Location	chr13:111359754-111359755
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	TBP	chr13:111359554-111359799	H1-hESC	embryonic stem cell:	n/a	n/a
2	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
3	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:111359657-111359902	K562	blood:	n/a	n/a

Variant related genes	Relation type
CARS2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv3345776	chr13:111356851-111361549	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	esv3407458	chr13:111357801-111360499	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
12	esv1007915	chr13:111358695-111360090	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111358800-111359800	Flanking Active TSS	GM12878-XiMat	blood
2	chr13:111359000-111359800	Enhancers	Spleen	Spleen
3	chr13:111359200-111359800	Enhancers	Fetal Thymus	thymus
4	chr13:111359200-111359800	Enhancers	K562	blood
5	chr13:111359200-111360200	Enhancers	Liver	Liver
6	chr13:111359200-111360800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:111359200-111361000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:111359200-111363000	Weak transcription	Fetal Intestine Large	intestine
9	chr13:111359200-111363400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:111359200-111363600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:111359200-111363600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:111359200-111363600	Weak transcription	HUVEC	blood vessel
13	chr13:111359200-111363800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:111359200-111363800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:111359200-111363800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:111359200-111363800	Weak transcription	Stomach Mucosa	stomach
17	chr13:111359200-111363800	Weak transcription	HSMMtube	muscle
18	chr13:111359200-111364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:111359400-111359800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:111359400-111359800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr13:111359400-111360000	Enhancers	Primary B cells from cord blood	blood
22	chr13:111359400-111360200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:111359400-111360200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:111359400-111360200	Enhancers	A549	lung
25	chr13:111359400-111361400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr13:111359400-111363000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:111359400-111363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:111359400-111363000	Weak transcription	Fetal Intestine Small	intestine
29	chr13:111359400-111363200	Weak transcription	Fetal Kidney	kidney
30	chr13:111359400-111363400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:111359400-111363400	Weak transcription	Fetal Lung	lung
32	chr13:111359400-111363600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:111359400-111363600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr13:111359400-111363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:111359400-111363600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111359400-111363600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:111359400-111363600	Weak transcription	Brain Germinal Matrix	brain
38	chr13:111359400-111363600	Weak transcription	Colonic Mucosa	Colon
39	chr13:111359400-111363600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:111359400-111363600	Weak transcription	Fetal Brain Male	brain
41	chr13:111359400-111363600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:111359400-111363600	Weak transcription	Fetal Stomach	stomach
43	chr13:111359400-111363600	Weak transcription	Left Ventricle	heart
44	chr13:111359400-111363600	Weak transcription	Lung	lung
45	chr13:111359400-111363600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr13:111359400-111363600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:111359400-111363600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:111359400-111363600	Weak transcription	Thymus	Thymus
49	chr13:111359400-111363600	Weak transcription	NH-A	brain
50	chr13:111359400-111363600	Weak transcription	NHLF	lung

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