Variant report

Variant	rs73998812
Chromosome Location	chr2:231328174-231328175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16827251	1.00[ASN][1000 genomes]
rs16827283	1.00[ASN][1000 genomes]
rs2396758	1.00[ASN][1000 genomes]
rs56136530	1.00[ASN][1000 genomes]
rs72983756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095024	1.00[ASN][1000 genomes]
rs73095025	1.00[ASN][1000 genomes]
rs73095038	1.00[ASN][1000 genomes]
rs73095039	1.00[ASN][1000 genomes]
rs73095041	1.00[ASN][1000 genomes]
rs973505	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:231312400-231337000	Weak transcription	HepG2	liver
8	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
9	chr2:231315000-231328600	Weak transcription	Small Intestine	intestine
10	chr2:231315000-231330800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:231315000-231331800	Weak transcription	Psoas Muscle	Psoas
12	chr2:231319400-231330400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:231319600-231336000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:231319800-231329800	Strong transcription	NH-A	brain
15	chr2:231319800-231332200	Weak transcription	Fetal Heart	heart
16	chr2:231319800-231336600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:231319800-231336800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr2:231319800-231336800	Strong transcription	HSMM	muscle
19	chr2:231320000-231336600	Strong transcription	Osteobl	bone
20	chr2:231320600-231329600	Strong transcription	Dnd41	blood
21	chr2:231321400-231336400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:231321800-231336600	Strong transcription	Ovary	ovary
23	chr2:231321800-231338600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:231322000-231336600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:231322200-231336600	Strong transcription	Placenta	Placenta
26	chr2:231322200-231340200	Strong transcription	Liver	Liver
27	chr2:231322400-231333600	Strong transcription	GM12878-XiMat	blood
28	chr2:231322600-231336200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:231322600-231336400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:231322600-231336600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:231322600-231336600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:231322600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:231322600-231336800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:231322600-231338200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:231322800-231329600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:231322800-231332200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:231322800-231336800	Strong transcription	Adipose Nuclei	Adipose
38	chr2:231322800-231336800	Strong transcription	Fetal Thymus	thymus
39	chr2:231323000-231329600	Strong transcription	Rectal Smooth Muscle	rectum
40	chr2:231323000-231336800	Strong transcription	Thymus	Thymus
41	chr2:231323200-231330200	Strong transcription	Spleen	Spleen
42	chr2:231323200-231336400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:231323400-231335600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:231323400-231336400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:231323400-231336800	Strong transcription	Primary T cells from cord blood	blood
46	chr2:231323400-231337600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:231323800-231337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:231324000-231334800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr2:231324000-231336800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:231324200-231334600	Strong transcription	Primary B cells from peripheral blood	blood

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