Variant report

Variant	rs17848721
Chromosome Location	chr2:172712810-172712811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11673831	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11675404	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11675891	0.87[AMR][1000 genomes]
rs12991441	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13016580	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13017695	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13021138	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024662	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1554259	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17427311	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17427473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17499306	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17499502	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1996424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138349	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2357062	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34108287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34221876	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34632749	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34962243	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35162284	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770459	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62182397	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182402	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62184174	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72889853	0.81[EUR][1000 genomes]
rs74173119	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs979955	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172720600	Weak transcription	Gastric	stomach
2	chr2:172690200-172721000	Weak transcription	Aorta	Aorta
3	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
5	chr2:172692200-172714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
8	chr2:172693400-172713200	Weak transcription	NH-A	brain
9	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:172693600-172713200	Weak transcription	Fetal Brain Male	brain
11	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:172693600-172734600	Weak transcription	HSMM	muscle
14	chr2:172693800-172715000	Weak transcription	NHLF	lung
15	chr2:172693800-172719000	Weak transcription	Psoas Muscle	Psoas
16	chr2:172693800-172720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:172693800-172721000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:172693800-172721000	Weak transcription	Spleen	Spleen
19	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
21	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
23	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:172694600-172720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:172694800-172714600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:172698600-172724200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:172699200-172714400	Weak transcription	Fetal Lung	lung
34	chr2:172699400-172721000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:172700200-172724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:172700200-172724400	Weak transcription	Fetal Stomach	stomach
38	chr2:172700400-172724200	Weak transcription	Fetal Brain Female	brain
39	chr2:172704200-172724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:172705000-172719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:172709600-172720400	Weak transcription	Fetal Heart	heart
46	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:172709800-172714600	Weak transcription	NHDF-Ad	bronchial
49	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:172710000-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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