Variant report

Variant	rs200597103
Chromosome Location	chr3:145790064-145790065
allele	A/C/G/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	JUN	chr3:145789756-145790164	HepG2	liver:	n/a	chr3:145790042-145790051
2	JUND	chr3:145789919-145790121	H1-hESC	embryonic stem cell:	n/a	chr3:145790042-145790051
3	JUND	chr3:145789911-145790222	HepG2	liver:	n/a	chr3:145790042-145790051
4	POLR2A	chr3:145789480-145790473	A549	lung:	n/a	n/a
5	POLR2A	chr3:145788381-145790538	U87	brain:	n/a	n/a
6	POLR2A	chr3:145788806-145790500	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:145788406-145790532	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145787365..145792721-chr3:145875341..145880381,7	MCF-7	breast:

Variant related genes	Relation type
PLOD2	TF binding region
ENSG00000240032	TF binding region
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv965397	chr3:145789376-145797057	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1351503	chr3:145790062-145790064	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2431353	chr3:145790063-145790064	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2108295	chr3:145790063-145790065	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145774600-145795400	Weak transcription	Aorta	Aorta
2	chr3:145777000-145819400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:145778200-145817200	Weak transcription	Fetal Stomach	stomach
4	chr3:145779600-145820600	Weak transcription	Fetal Kidney	kidney
5	chr3:145780000-145815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:145780600-145820400	Weak transcription	Placenta	Placenta
7	chr3:145780800-145793800	Weak transcription	Ovary	ovary
8	chr3:145780800-145793800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:145780800-145819800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:145781800-145831800	Weak transcription	Psoas Muscle	Psoas
11	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
12	chr3:145784000-145811800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:145784600-145790400	Weak transcription	NHLF	lung
14	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:145784800-145794000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:145785200-145806400	Weak transcription	Colonic Mucosa	Colon
17	chr3:145785200-145819400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:145785400-145790400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:145785400-145791800	Strong transcription	HSMM	muscle
20	chr3:145785400-145796800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:145785600-145790800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr3:145785600-145790800	Weak transcription	NHDF-Ad	bronchial
23	chr3:145785600-145798600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:145786000-145790800	Strong transcription	HUVEC	blood vessel
25	chr3:145786400-145791000	Genic enhancers	A549	lung
26	chr3:145786600-145792800	Strong transcription	HepG2	liver
27	chr3:145786800-145793800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:145787000-145807200	Weak transcription	Fetal Lung	lung
29	chr3:145787200-145798400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:145787400-145793200	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:145787400-145793800	Weak transcription	Brain Anterior Caudate	brain
32	chr3:145787600-145798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:145787800-145791200	Weak transcription	Small Intestine	intestine
34	chr3:145788400-145790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:145788400-145791000	Strong transcription	NH-A	brain
36	chr3:145788400-145793000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:145788800-145790200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:145789000-145790200	Strong transcription	Left Ventricle	heart
39	chr3:145789000-145791000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:145789200-145790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:145789200-145790600	Enhancers	Adipose Nuclei	Adipose
42	chr3:145789200-145791000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:145789200-145796000	Weak transcription	HMEC	breast
44	chr3:145789200-145830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:145789400-145790200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:145789400-145791200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:145789400-145793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:145789600-145790200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:145789600-145790200	Genic enhancers	Fetal Intestine Large	intestine
50	chr3:145789600-145790200	Enhancers	Skeletal Muscle Female	skeletal muscle

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