Variant report

Variant	rs73983604
Chromosome Location	chr2:208690696-208690697
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	chr2:208690596-208691074	SH-SY5Y	brain:	n/a	chr2:208691032-208691042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208685018..208686857-chr2:208689942..208693152,3	MCF-7	breast:
2	chr2:208687390..208689675-chr2:208690295..208692788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244567	TF binding region
ENSG00000244567	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs58524730	1.00[AMR][1000 genomes]
rs59975915	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73986306	1.00[AMR][1000 genomes]
rs73986311	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208675400-208693000	Weak transcription	Small Intestine	intestine
2	chr2:208675600-208692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:208678400-208690800	Weak transcription	Fetal Brain Female	brain
4	chr2:208678600-208691400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:208678600-208695400	Weak transcription	Fetal Brain Male	brain
6	chr2:208679000-208701400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:208679400-208693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:208680600-208694600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:208681000-208693200	Weak transcription	Hela-S3	cervix
10	chr2:208682200-208691200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:208683800-208694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:208684200-208693400	Weak transcription	Gastric	stomach
13	chr2:208684400-208694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:208684400-208701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:208684600-208691800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:208684600-208692200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:208684600-208693000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:208684600-208694400	Weak transcription	Colonic Mucosa	Colon
19	chr2:208684600-208701200	Weak transcription	HSMMtube	muscle
20	chr2:208684600-208701600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:208684800-208693200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:208684800-208693200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:208684800-208693200	Weak transcription	HMEC	breast
24	chr2:208685000-208698000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:208685200-208692600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:208685200-208701200	Weak transcription	Fetal Kidney	kidney
27	chr2:208685400-208691200	Weak transcription	Spleen	Spleen
28	chr2:208685400-208691200	Weak transcription	K562	blood
29	chr2:208685400-208691400	Enhancers	HepG2	liver
30	chr2:208685400-208691800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:208685400-208692000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:208685400-208698400	Weak transcription	Esophagus	oesophagus
33	chr2:208685400-208701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:208685400-208701200	Weak transcription	Fetal Lung	lung
35	chr2:208685600-208693000	Weak transcription	Ovary	ovary
36	chr2:208685600-208693400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:208685600-208701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:208685800-208691600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:208686000-208690800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:208686000-208691000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:208686000-208693000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:208686000-208696800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:208686400-208693200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:208687200-208693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:208687400-208690800	Strong transcription	Primary B cells from cord blood	blood
46	chr2:208687400-208693600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:208687400-208696400	Weak transcription	Dnd41	blood
48	chr2:208687600-208692200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:208687600-208694600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:208687800-208691200	Strong transcription	Fetal Intestine Small	intestine

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