Variant report

Variant	rs4953424
Chromosome Location	chr2:47041685-47041686
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	GATA2	chr2:47041332-47041820	HUVEC	blood vessel:	n/a	chr2:47041543-47041553 chr2:47041545-47041552 chr2:47041542-47041556 chr2:47041545-47041552 chr2:47041540-47041556 chr2:47041538-47041559 chr2:47041535-47041545 chr2:47041545-47041552
2	NFIC	chr2:47041128-47041884	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr2:47041247-47041780	SK-N-SH	brain:	n/a	chr2:47041455-47041475
4	EP300	chr2:47037776-47041932	SK-N-SH	brain:	n/a	chr2:47041533-47041547 chr2:47038862-47038876 chr2:47039929-47039943
5	PBX3	chr2:47041114-47041817	SK-N-SH	brain:	n/a	chr2:47041455-47041475

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47040061..47042804-chr2:47072959..47074539,2	MCF-7	breast:

Variant related genes	Relation type
LINC01118	TF binding region
LINC01119	TF binding region
ENSG00000239332	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs935375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935376	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47043600	Weak transcription	Spleen	Spleen
2	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:47037600-47042400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:47038000-47042600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:47038200-47042400	Enhancers	Fetal Stomach	stomach
6	chr2:47038200-47042600	Enhancers	NHDF-Ad	bronchial
7	chr2:47038200-47042800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:47038600-47042000	Enhancers	Brain Anterior Caudate	brain
9	chr2:47038600-47042000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47038600-47042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:47038600-47042400	Enhancers	Fetal Muscle Leg	muscle
12	chr2:47038600-47042400	Enhancers	Ovary	ovary
13	chr2:47038600-47042400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:47038600-47042600	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:47038600-47042600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:47038600-47042800	Enhancers	Left Ventricle	heart
17	chr2:47038600-47046400	Enhancers	Lung	lung
18	chr2:47038600-47046400	Enhancers	Right Atrium	heart
19	chr2:47038800-47041800	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:47038800-47042800	Enhancers	Fetal Heart	heart
21	chr2:47038800-47043800	Enhancers	Placenta	Placenta
22	chr2:47038800-47044000	Weak transcription	Esophagus	oesophagus
23	chr2:47038800-47046200	Enhancers	Right Ventricle	heart
24	chr2:47039200-47042000	Enhancers	Colonic Mucosa	Colon
25	chr2:47039200-47042200	Enhancers	Adipose Nuclei	Adipose
26	chr2:47039600-47041800	Enhancers	Aorta	Aorta
27	chr2:47039800-47042000	Enhancers	NHLF	lung
28	chr2:47039800-47042400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:47039800-47042400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:47039800-47042800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:47040000-47041800	Enhancers	NH-A	brain
33	chr2:47040000-47042000	Enhancers	Fetal Thymus	thymus
34	chr2:47040200-47042000	Weak transcription	Fetal Intestine Small	intestine
35	chr2:47040200-47042200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:47040200-47042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:47040200-47044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:47040400-47042200	Enhancers	Osteobl	bone
39	chr2:47040400-47042600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:47040400-47045800	Weak transcription	HMEC	breast
41	chr2:47040600-47044800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:47040600-47045000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:47040600-47045200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:47040600-47045200	Weak transcription	HSMMtube	muscle
45	chr2:47040800-47042600	Enhancers	HUVEC	blood vessel
46	chr2:47041000-47042000	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:47041200-47041800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:47041200-47041800	Enhancers	Fetal Intestine Large	intestine
49	chr2:47041200-47041800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr2:47041200-47042000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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