Variant report

Variant	rs72811003
Chromosome Location	chr2:99441697-99441698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2090181	0.85[ASN][1000 genomes]
rs2203432	0.85[ASN][1000 genomes]
rs2871243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2871244	0.85[ASN][1000 genomes]
rs3731660	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851160	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs58560917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58676789	0.91[ASN][1000 genomes]
rs59083513	0.85[ASN][1000 genomes]
rs59313126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60496162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61042973	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61311613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61402919	0.85[ASN][1000 genomes]
rs72811004	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827717	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72827722	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72827724	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72827727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72827734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827736	0.83[ASN][1000 genomes]
rs72827739	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827740	0.85[ASN][1000 genomes]
rs72827741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827742	0.85[ASN][1000 genomes]
rs72827743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99427400-99442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
4	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:99439400-99442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:99439600-99441800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:99439600-99442800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:99439800-99441800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:99439800-99441800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:99439800-99442000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr2:99439800-99442200	Enhancers	Primary T cells from cord blood	blood
12	chr2:99439800-99442200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:99439800-99442200	Weak transcription	Esophagus	oesophagus
14	chr2:99439800-99442200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:99440000-99441800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:99440000-99442000	Weak transcription	Pancreas	Pancrea
20	chr2:99440000-99442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:99440000-99443200	Enhancers	HepG2	liver
22	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:99440200-99442000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:99440200-99442000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:99440200-99442200	Enhancers	Adipose Nuclei	Adipose
27	chr2:99440200-99444000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
29	chr2:99440400-99442000	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:99440400-99442400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:99440600-99442000	Weak transcription	Gastric	stomach
35	chr2:99440600-99442200	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:99440600-99442200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:99440600-99442400	Weak transcription	Brain Angular Gyrus	brain
38	chr2:99440600-99442800	Enhancers	Primary B cells from cord blood	blood
39	chr2:99440600-99444200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
41	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
42	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:99440600-99449600	Weak transcription	HMEC	breast
44	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:99441000-99442600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:99441000-99445200	Weak transcription	Thymus	Thymus
47	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:99441200-99441800	Enhancers	Brain Anterior Caudate	brain
49	chr2:99441200-99441800	Enhancers	Lung	lung
50	chr2:99441200-99442400	Enhancers	Left Ventricle	heart

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