Variant report

Variant	rs737888
Chromosome Location	chr22:31611549-31611550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31610893..31612978-chr22:31616377..31617968,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1034588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1034589	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13054220	0.84[EUR][1000 genomes]
rs13056485	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs13158	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1858821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2040533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2073857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2078803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079431	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2106294	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2228619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2232170	0.85[CEU][hapmap]
rs2232176	0.85[CEU][hapmap]
rs2283879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2283881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413031	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2413032	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2413033	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2413034	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2413035	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413046	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2413047	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2413049	0.91[EUR][1000 genomes]
rs2899164	0.95[CEU][hapmap]
rs4141404	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4299418	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4603880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs4820042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820955	1.00[CEU][hapmap]
rs4820962	0.86[EUR][1000 genomes]
rs4820963	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs5749224	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749243	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5753500	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753505	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753507	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs5753601	0.95[CEU][hapmap]
rs5997893	0.90[MEX][hapmap]
rs5997902	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997912	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997933	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997939	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5997949	0.80[EUR][1000 genomes]
rs71324184	0.80[EUR][1000 genomes]
rs71331284	0.81[ASN][1000 genomes]
rs714909	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7287267	0.86[EUR][1000 genomes]
rs737684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737887	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs8135344	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8135347	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8135417	0.90[MEX][hapmap]
rs9606830	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9606831	0.86[EUR][1000 genomes]
rs9606839	0.95[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap]
rs9609254	0.84[EUR][1000 genomes]
rs9609257	0.83[EUR][1000 genomes]
rs9609264	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9609265	0.86[EUR][1000 genomes]
rs9609266	0.86[EUR][1000 genomes]
rs9609267	0.86[EUR][1000 genomes]
rs9609268	0.83[EUR][1000 genomes]
rs9621235	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs737888	SFI1	cis	Thyroid	GTEx
rs737888	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609200-31613600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:31609200-31613800	Weak transcription	Fetal Kidney	kidney
4	chr22:31609200-31613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:31609200-31613800	Weak transcription	NH-A	brain
6	chr22:31609200-31614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:31609200-31614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:31609200-31615000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:31609200-31616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:31609200-31619600	Weak transcription	Brain Substantia Nigra	brain
11	chr22:31609200-31629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:31609400-31611600	Enhancers	Liver	Liver
13	chr22:31609400-31612200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:31609400-31612400	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:31609400-31613000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:31609400-31613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:31609400-31613800	Weak transcription	NHEK	skin
18	chr22:31609400-31614600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31609400-31614600	Weak transcription	Left Ventricle	heart
20	chr22:31609400-31614800	Weak transcription	NHDF-Ad	bronchial
21	chr22:31609400-31615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:31609400-31616200	Weak transcription	A549	lung
23	chr22:31609400-31617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:31609400-31619000	Weak transcription	HSMM	muscle
25	chr22:31609400-31619600	Weak transcription	Brain Angular Gyrus	brain
26	chr22:31609400-31621800	Weak transcription	Fetal Brain Female	brain
27	chr22:31609400-31625400	Weak transcription	NHLF	lung
28	chr22:31609400-31625400	Weak transcription	Osteobl	bone
29	chr22:31609600-31612200	Weak transcription	Primary T cells from cord blood	blood
30	chr22:31609600-31612200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:31609600-31612400	Weak transcription	Esophagus	oesophagus
32	chr22:31609600-31612400	Weak transcription	Gastric	stomach
33	chr22:31609600-31612400	Active TSS	Rectal Smooth Muscle	rectum
34	chr22:31609600-31612600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:31609600-31612600	Weak transcription	Adipose Nuclei	Adipose
36	chr22:31609600-31612600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:31609600-31612600	Weak transcription	Right Atrium	heart
38	chr22:31609600-31613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:31609600-31613400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:31609600-31613400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr22:31609600-31613400	Weak transcription	Fetal Heart	heart
42	chr22:31609600-31613400	Weak transcription	K562	blood
43	chr22:31609600-31613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31609600-31613600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:31609600-31613600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr22:31609600-31613800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31609600-31613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:31609600-31613800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:31609600-31613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr22:31609600-31613800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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