Variant report

Variant	rs374071911
Chromosome Location	chr13:76209289-76209290
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	RFX5	chr13:76209267-76210104	HepG2	liver:	n/a	n/a
2	BHLHE40	chr13:76209286-76211225	HepG2	liver:	n/a	chr13:76210232-76210248 chr13:76209876-76209885 chr13:76209876-76209885
3	MAX	chr13:76209217-76211130	HepG2	liver:	n/a	chr13:76209876-76209885 chr13:76209875-76209886
4	POLR2A	chr13:76209248-76211186	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv976062	chr13:76206320-76211659	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1816393	chr13:76207565-76210742	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3425803	chr13:76208851-76211849	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr13:76149800-76209600	Weak transcription	Lung	lung
4	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
6	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
8	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
9	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
12	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
19	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
22	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:76197000-76209600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:76197800-76209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:76198800-76209400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:76199800-76209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:76200200-76209400	Weak transcription	Primary T cells from cord blood	blood
28	chr13:76200200-76209400	Weak transcription	Aorta	Aorta
29	chr13:76200200-76209600	Weak transcription	Primary B cells from cord blood	blood
30	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:76200400-76209400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr13:76202400-76209400	Weak transcription	Fetal Lung	lung
34	chr13:76203200-76209600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:76203800-76209400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:76203800-76209400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr13:76205400-76209400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:76207600-76209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:76208000-76209400	Weak transcription	HMEC	breast
40	chr13:76208000-76209400	Weak transcription	NHEK	skin
41	chr13:76208000-76211600	Active TSS	Osteobl	bone
42	chr13:76208200-76209600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:76208600-76209600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:76208600-76210600	Active TSS	Placenta	Placenta
45	chr13:76208600-76211400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr13:76208600-76211800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:76208800-76209600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr13:76209000-76212200	Active TSS	HSMM	muscle

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