Variant report

Variant	rs2037773
Chromosome Location	chr4:101958617-101958618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1358312	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1358313	0.83[ASN][1000 genomes]
rs17124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28488364	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34422081	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41498549	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55792312	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58457068	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58656951	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62305883	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62305884	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62305885	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62305886	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62305887	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6850799	0.83[ASN][1000 genomes]
rs6851231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs72929311	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7840	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs952506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3465844	chr4:101958129-101962627	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2037773	BANK1	cis	parietal	SCAN
rs2037773	METAP1	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101936200-101967800	Weak transcription	Fetal Kidney	kidney
2	chr4:101941000-101960200	Weak transcription	Colonic Mucosa	Colon
3	chr4:101941200-101971000	Weak transcription	Psoas Muscle	Psoas
4	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:101941600-101959400	Weak transcription	HepG2	liver
7	chr4:101941800-101959200	Weak transcription	Left Ventricle	heart
8	chr4:101942000-101970200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:101942400-101960200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:101942400-101971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:101942600-101966800	Weak transcription	Gastric	stomach
12	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:101942800-101959600	Weak transcription	Lung	lung
15	chr4:101943000-101959000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:101943000-101961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:101943200-101959200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:101943200-101967400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:101943200-101967400	Weak transcription	Spleen	Spleen
20	chr4:101943400-101959000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:101943400-101964200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:101943400-101967200	Weak transcription	Fetal Brain Male	brain
23	chr4:101943600-101958800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:101943800-101958800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:101943800-101960800	Weak transcription	Esophagus	oesophagus
26	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
27	chr4:101944000-101958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:101944000-101959000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:101944000-101962000	Weak transcription	A549	lung
30	chr4:101944000-101964600	Weak transcription	NHLF	lung
31	chr4:101944400-101959200	Weak transcription	NHDF-Ad	bronchial
32	chr4:101944400-101968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:101944400-101981200	Weak transcription	Pancreas	Pancrea
34	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
35	chr4:101945400-101961000	Weak transcription	Fetal Brain Female	brain
36	chr4:101945400-101961600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:101945600-101970800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:101945800-101960400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:101945800-101970800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:101947800-101959200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:101948200-101960000	Weak transcription	Osteobl	bone
43	chr4:101949400-101959200	Weak transcription	Fetal Thymus	thymus
44	chr4:101950200-101967000	Weak transcription	Stomach Mucosa	stomach
45	chr4:101950200-101971400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:101950400-101964000	Weak transcription	HSMMtube	muscle
47	chr4:101950400-101965800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:101950400-101971400	Weak transcription	Brain Anterior Caudate	brain
49	chr4:101951800-101967200	Weak transcription	Right Ventricle	heart
50	chr4:101953400-101959000	Weak transcription	Primary hematopoietic stem cells	blood

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