Variant report

Variant	rs10182389
Chromosome Location	chr2:173207116-173207117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10182528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195587	1.00[EUR][1000 genomes]
rs10205762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468634	1.00[EUR][1000 genomes]
rs13382231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13397317	1.00[ASN][1000 genomes]
rs13397362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403893	1.00[EUR][1000 genomes]
rs13407052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410700	1.00[ASN][1000 genomes]
rs13411249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411530	1.00[EUR][1000 genomes]
rs13417240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426090	1.00[EUR][1000 genomes]
rs13432301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860144	1.00[EUR][1000 genomes]
rs28446437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28453886	1.00[EUR][1000 genomes]
rs6433352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733461	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752598	1.00[EUR][1000 genomes]
rs6753115	1.00[EUR][1000 genomes]
rs6761574	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761700	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024858	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024860	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024866	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559516	1.00[EUR][1000 genomes]
rs7570341	1.00[EUR][1000 genomes]
rs7570443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3434359	chr2:173206993-173207304	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
2	chr2:173202400-173207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:173203600-173208400	Enhancers	Fetal Intestine Large	intestine
4	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:173205200-173207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:173205200-173207400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:173205200-173209000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:173205400-173208000	Enhancers	Fetal Intestine Small	intestine
9	chr2:173205600-173209000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:173205800-173207400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:173205800-173207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:173205800-173207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:173206000-173207600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:173206000-173207800	Enhancers	Ovary	ovary
15	chr2:173206800-173207200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:173206800-173207200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:173206800-173207200	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:173206800-173207200	Enhancers	Fetal Muscle Leg	muscle
19	chr2:173206800-173207200	Enhancers	Left Ventricle	heart
20	chr2:173206800-173207200	Enhancers	Lung	lung
21	chr2:173206800-173207200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:173206800-173207200	Enhancers	Right Atrium	heart
23	chr2:173206800-173207200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:173206800-173207400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:173206800-173207800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:173206800-173207800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:173206800-173207800	Enhancers	Gastric	stomach
28	chr2:173206800-173207800	Enhancers	Small Intestine	intestine
29	chr2:173206800-173208400	Enhancers	Pancreas	Pancrea
30	chr2:173207000-173207200	Flanking Active TSS	Colonic Mucosa	Colon
31	chr2:173207000-173207200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:173207000-173207200	Bivalent Enhancer	HepG2	liver
33	chr2:173207000-173207200	Enhancers	Osteobl	bone
34	chr2:173207000-173207600	Enhancers	Spleen	Spleen
35	chr2:173207000-173207800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:173207000-173207800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:173207000-173207800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:173207000-173208000	Enhancers	Duodenum Mucosa	Duodenum

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