Variant report

Variant	rs1996424
Chromosome Location	chr2:172678365-172678366
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172669767..172671872-chr2:172676820..172679924,3	K562	blood:

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

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

rs_ID	r²[population]
rs11673831	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11675404	0.82[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11675891	0.87[AMR][1000 genomes]
rs11695630	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12991441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13016580	0.87[CEU][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13017695	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13021138	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13024662	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1554259	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17427311	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17427473	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17499306	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17499502	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17848721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138349	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2357062	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34108287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34221876	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34632749	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34962243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35162284	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770459	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4581870	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs62182397	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62182402	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62184174	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6718013	0.81[JPT][hapmap]
rs6737308	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs72889853	0.81[EUR][1000 genomes]
rs74173119	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584187	0.81[JPT][hapmap]
rs979955	0.80[AMR][1000 genomes];0.81[EUR][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	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
6	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
11	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
14	chr2:172649000-172687400	Weak transcription	Gastric	stomach
15	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:172650400-172687600	Weak transcription	Lung	lung
20	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
21	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
22	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172655400-172687400	Weak transcription	A549	lung
24	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
25	chr2:172655600-172687400	Weak transcription	NH-A	brain
26	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:172656000-172679600	Weak transcription	Osteobl	bone
28	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
29	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
32	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
36	chr2:172664200-172687400	Weak transcription	K562	blood
37	chr2:172664400-172679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
39	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172664600-172687400	Weak transcription	NHEK	skin
41	chr2:172664800-172680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:172664800-172687600	Weak transcription	HMEC	breast
44	chr2:172665200-172681800	Weak transcription	HepG2	liver
45	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
46	chr2:172666200-172678800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:172666600-172678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172666600-172685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:172666800-172681400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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