Variant report

Variant	rs2726496
Chromosome Location	chr4:106288827-106288828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106288031..106290693-chr4:106292188..106294028,2	K562	blood:
2	chr4:106287631..106290693-chr4:106292188..106294028,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10020998	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs1125254	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs11301777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1603706	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023840	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2046880	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2264415	0.98[ASN][1000 genomes]
rs2264416	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264853	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298732	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs2636693	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2636694	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2636695	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636727	0.90[ASN][1000 genomes]
rs2636747	0.85[ASN][1000 genomes]
rs2647242	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2647252	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647255	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2647265	0.92[ASN][1000 genomes]
rs2713826	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2713844	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713845	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726456	0.97[ASN][1000 genomes]
rs2866883	0.87[CHB][hapmap]
rs34248474	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35206705	0.97[ASN][1000 genomes]
rs36112402	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3864225	0.87[CHB][hapmap]
rs4699176	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs6533199	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs6533201	0.95[CHB][hapmap]
rs6816997	0.87[CHB][hapmap]
rs72665982	0.83[ASN][1000 genomes]
rs763289	0.87[CHB][hapmap]
rs7678401	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs924282	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs924283	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9999896	0.87[CHB][hapmap];0.81[CHD][hapmap]

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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2726496	PPA2	cis	lymphoblastoid	seeQTL
rs2726496	TET2	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106253800-106343000	Weak transcription	Psoas Muscle	Psoas
2	chr4:106272600-106291600	Weak transcription	Fetal Brain Male	brain
3	chr4:106272800-106304000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:106273400-106293000	Weak transcription	Pancreas	Pancrea
5	chr4:106274400-106326800	Weak transcription	Small Intestine	intestine
6	chr4:106274800-106294400	Weak transcription	HSMM	muscle
7	chr4:106274800-106330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:106275800-106307800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:106278600-106307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:106279000-106339600	Weak transcription	HSMMtube	muscle
11	chr4:106279000-106347400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:106280000-106344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:106280600-106290600	Weak transcription	Stomach Mucosa	stomach
14	chr4:106281000-106326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:106282400-106289000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:106282600-106316800	Weak transcription	Fetal Heart	heart
17	chr4:106282600-106325800	Weak transcription	Brain Angular Gyrus	brain
18	chr4:106282600-106335600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:106283200-106290800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:106283600-106330000	Weak transcription	Right Ventricle	heart
21	chr4:106285000-106289200	Weak transcription	Osteobl	bone
22	chr4:106285000-106326000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:106285600-106289000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:106286600-106295400	Weak transcription	Hela-S3	cervix
25	chr4:106286800-106291000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:106287000-106289000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:106287000-106290800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:106287000-106291200	Strong transcription	Primary T cells from cord blood	blood
29	chr4:106287000-106291400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:106287000-106320800	Weak transcription	NH-A	brain
31	chr4:106287000-106335800	Weak transcription	Colonic Mucosa	Colon
32	chr4:106287200-106289800	ZNF genes & repeats	Dnd41	blood
33	chr4:106287200-106290000	Strong transcription	Left Ventricle	heart
34	chr4:106287200-106290200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:106287200-106290200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr4:106287200-106291200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:106287400-106290200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:106287400-106291000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:106287600-106289200	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:106287600-106290200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:106287600-106290400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:106287600-106304000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:106287600-106304800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:106287600-106335600	Weak transcription	Esophagus	oesophagus
45	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:106287800-106289000	Weak transcription	Fetal Lung	lung
47	chr4:106287800-106289200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:106287800-106291000	Strong transcription	Fetal Intestine Large	intestine
49	chr4:106287800-106291000	Strong transcription	Fetal Thymus	thymus
50	chr4:106287800-106291200	Strong transcription	Primary B cells from cord blood	blood

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