Variant report

Variant	rs2108108
Chromosome Location	chr22:32181937-32181938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32170492-32188129..22:33178968-33185617	Hela-S3	cervix:
2	22:31936958-31958600..22:32170492-32188129	GM12878	blood:
3	22:32170492-32188129..22:32284948-32287956	Hela-S3	cervix:
4	22:32170492-32188129..22:32347255-32351014	K562	blood:
5	22:32170492-32188129..22:32846948-32860159	K562	blood:

Variant related genes	Relation type
ENSG00000214093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000229673	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1012068	0.81[CEU][hapmap]
rs11089527	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171042	0.80[MKK][hapmap]
rs131233	0.87[CHB][hapmap];0.82[YRI][hapmap]
rs131244	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs131245	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs131250	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs131253	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs138289	0.86[YRI][hapmap]
rs140078	0.87[CHB][hapmap];0.98[GIH][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs140081	0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs2012150	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28528942	0.82[EUR][1000 genomes]
rs3804087	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.89[MKK][hapmap];0.80[TSI][hapmap]
rs5994420	0.94[CHB][hapmap]
rs5994427	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs5994431	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5994432	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5994443	0.81[TSI][hapmap]
rs5998069	0.85[MKK][hapmap]
rs5998086	0.94[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap]
rs5998119	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5998121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998131	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998136	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62238892	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7287054	0.81[YRI][hapmap]
rs7287937	0.80[MKK][hapmap]
rs7290856	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7291918	0.80[MKK][hapmap]
rs760908	0.81[CHB][hapmap];0.81[GIH][hapmap];0.92[MKK][hapmap]
rs761746	0.86[MKK][hapmap]
rs8141214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9619234	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9621327	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9956	0.85[MKK][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2108108	ZNRF3	cis	parietal	SCAN
rs2108108	C22orf31	cis	cerebellum	SCAN
rs2108108	TCN2	cis	cerebellum	SCAN
rs2108108	YWHAH	cis	cerebellum	SCAN
rs2108108	C22orf42	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32150800-32212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32151000-32210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32151400-32217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:32152200-32184000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:32152400-32187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:32153400-32187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:32153800-32183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:32154000-32182000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:32154000-32188600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr22:32154200-32184000	Strong transcription	Liver	Liver
11	chr22:32154400-32188200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr22:32156200-32182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:32156400-32184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:32159400-32184200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:32159600-32186600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:32159600-32207600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:32163200-32185400	Weak transcription	Fetal Heart	heart
18	chr22:32164000-32182200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr22:32164600-32196000	Weak transcription	Hela-S3	cervix
20	chr22:32165000-32197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:32171200-32195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:32171200-32204200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:32171600-32183000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr22:32171600-32184600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:32171600-32185000	Weak transcription	K562	blood
26	chr22:32172000-32186000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:32172200-32182200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr22:32172200-32182200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr22:32172200-32182800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:32172800-32221000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:32173800-32182000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:32173800-32182000	Strong transcription	Fetal Brain Female	brain
34	chr22:32175200-32182000	Weak transcription	Psoas Muscle	Psoas
35	chr22:32175200-32213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:32175400-32193400	Weak transcription	HSMMtube	muscle
37	chr22:32175800-32202000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:32176000-32192400	Weak transcription	Fetal Kidney	kidney
39	chr22:32176000-32194600	Weak transcription	Fetal Brain Male	brain
40	chr22:32176000-32198600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr22:32176600-32193600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:32176800-32193800	Weak transcription	HSMM	muscle
43	chr22:32176800-32196200	Weak transcription	NHLF	lung
44	chr22:32176800-32198800	Weak transcription	A549	lung
45	chr22:32176800-32200000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr22:32177000-32190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:32177000-32193200	Weak transcription	Esophagus	oesophagus
48	chr22:32177000-32193200	Weak transcription	Right Ventricle	heart
49	chr22:32177000-32193600	Weak transcription	Pancreas	Pancrea
50	chr22:32177000-32194600	Weak transcription	Colonic Mucosa	Colon

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