Variant report

Variant	rs2057951
Chromosome Location	chr22:31730045-31730046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr22:31729990-31730397	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228839	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11089493	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11089495	1.00[CEU][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs11089496	0.85[EUR][1000 genomes]
rs1123705	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs1138706	0.85[EUR][1000 genomes]
rs11556237	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs11703005	0.87[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs11703576	0.85[EUR][1000 genomes]
rs11704523	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs12157877	1.00[CEU][hapmap]
rs16989469	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17220418	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs17820958	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1859677	0.86[ASN][1000 genomes]
rs2027982	0.83[LWK][hapmap];0.84[MKK][hapmap];0.91[YRI][hapmap]
rs2073856	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2073859	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2073860	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs2073861	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2074734	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2158779	0.82[ASN][1000 genomes]
rs2240424	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2240427	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2267168	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2283882	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2899161	0.94[CEU][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3091392	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs3761430	0.86[JPT][hapmap]
rs4293639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55837074	0.84[EUR][1000 genomes]
rs56292834	0.86[EUR][1000 genomes]
rs5749222	0.86[JPT][hapmap]
rs5749225	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5749236	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5749240	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5749252	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs5749255	0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs5749257	0.81[ASN][1000 genomes]
rs5753485	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5753494	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs5753495	0.93[JPT][hapmap]
rs5753509	0.81[JPT][hapmap]
rs5753511	0.86[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs5753516	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5753519	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5753523	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753525	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs5753526	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs5753527	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs5753535	0.86[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs5753540	0.84[JPT][hapmap]
rs5753554	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753555	0.82[ASN][1000 genomes]
rs5753556	0.82[ASN][1000 genomes]
rs5753561	0.82[ASN][1000 genomes]
rs5753566	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs5753569	0.80[ASN][1000 genomes]
rs5753572	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs5753574	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs5994386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5994387	0.98[EUR][1000 genomes]
rs5997893	0.82[JPT][hapmap]
rs5997917	0.93[CEU][hapmap]
rs5997921	1.00[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997924	0.90[EUR][1000 genomes]
rs5997937	1.00[CEU][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap]
rs5997942	0.93[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs5997948	0.93[EUR][1000 genomes]
rs5997956	0.98[EUR][1000 genomes]
rs5997959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997965	0.92[EUR][1000 genomes]
rs60459126	0.88[EUR][1000 genomes]
rs695455	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs695682	0.87[CEU][hapmap]
rs713619	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7285027	0.81[EUR][1000 genomes]
rs7285716	0.81[EUR][1000 genomes]
rs7286926	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7287715	0.87[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs7292620	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs739428	0.87[CEU][hapmap]
rs8135417	0.86[JPT][hapmap]
rs8143159	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs8595	0.93[CEU][hapmap]
rs874356	0.86[JPT][hapmap]
rs9619178	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs9621212	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs9621236	0.80[ASN][1000 genomes]
rs9680708	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2057951	SFI1	cis	cerebellum	SCAN
rs2057951	DUSP18	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
2	chr22:31716400-31735600	Strong transcription	Primary T cells from cord blood	blood
3	chr22:31717000-31731600	Strong transcription	Fetal Brain Female	brain
4	chr22:31717200-31735200	Strong transcription	Thymus	Thymus
5	chr22:31717200-31737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31717400-31730200	Strong transcription	Fetal Intestine Small	intestine
7	chr22:31717400-31733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:31717400-31734400	Strong transcription	Brain Germinal Matrix	brain
9	chr22:31717600-31736800	Strong transcription	Fetal Thymus	thymus
10	chr22:31717800-31732400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:31717800-31736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:31718000-31731600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:31718000-31732800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:31718000-31736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:31718000-31737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31718200-31735000	Strong transcription	Fetal Stomach	stomach
17	chr22:31718200-31735800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:31718200-31737600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:31718600-31735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:31718800-31732200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:31718800-31733200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31719000-31732800	Strong transcription	HepG2	liver
23	chr22:31719000-31733400	Strong transcription	Dnd41	blood
24	chr22:31719000-31733800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31719000-31736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr22:31719600-31735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:31719600-31737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:31719600-31738200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr22:31719800-31730200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:31719800-31735200	Strong transcription	Fetal Lung	lung
32	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr22:31720000-31730200	Strong transcription	Adipose Nuclei	Adipose
34	chr22:31720000-31730600	Weak transcription	K562	blood
35	chr22:31720000-31731200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:31720000-31732200	Strong transcription	Spleen	Spleen
37	chr22:31720000-31732400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr22:31720200-31732400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:31720600-31738000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:31720800-31730400	Strong transcription	Lung	lung
41	chr22:31720800-31732000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:31720800-31735400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr22:31720800-31735600	Strong transcription	GM12878-XiMat	blood
44	chr22:31720800-31737800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:31721000-31732000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr22:31721000-31732200	Strong transcription	A549	lung
47	chr22:31721000-31738000	Strong transcription	Rectal Smooth Muscle	rectum
48	chr22:31721200-31730200	Weak transcription	Right Atrium	heart
49	chr22:31721200-31732200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr22:31721200-31733800	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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