Variant report

Variant	rs73097010
Chromosome Location	chr2:231372260-231372261
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	RUNX3	chr2:231372107-231372518	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SP100	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59272166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097022	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101040	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
2	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
5	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:231356400-231377000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:231357200-231377800	Weak transcription	Stomach Mucosa	stomach
9	chr2:231358400-231376600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:231358600-231377400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:231361800-231374200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:231362000-231376600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:231362000-231376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:231362200-231374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:231362200-231378600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:231362400-231378400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:231362400-231378600	Strong transcription	Primary T cells from cord blood	blood
20	chr2:231362600-231378600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:231362800-231376600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:231363000-231376600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:231363400-231372600	Strong transcription	Lung	lung
25	chr2:231363400-231372800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:231363400-231377000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:231363800-231380200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:231364200-231381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
30	chr2:231364800-231373600	Weak transcription	Esophagus	oesophagus
31	chr2:231364800-231377200	Weak transcription	Fetal Intestine Large	intestine
32	chr2:231365400-231374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:231365400-231377600	Weak transcription	Fetal Intestine Small	intestine
34	chr2:231365600-231373400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:231365600-231374400	Weak transcription	NHEK	skin
36	chr2:231365600-231376000	Weak transcription	Fetal Stomach	stomach
37	chr2:231365600-231377200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:231366200-231372600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:231366600-231374000	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:231366600-231385200	Weak transcription	HMEC	breast
41	chr2:231366800-231379800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:231367000-231373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:231367000-231378600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:231367200-231376600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:231368400-231372600	Strong transcription	Gastric	stomach
46	chr2:231368400-231372600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:231368400-231372600	Genic enhancers	GM12878-XiMat	blood
48	chr2:231368400-231374000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:231368400-231378000	Strong transcription	Spleen	Spleen
50	chr2:231368800-231372600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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