Variant report

Variant	rs16872323
Chromosome Location	chr5:74134742-74134743
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	chr5:74132469..74134995-chr5:74135998..74138912,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1048167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10515192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10515194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10515199	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739122	0.83[MKK][hapmap]
rs11959570	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16872259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872362	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561738	1.00[ASN][1000 genomes]
rs3733794	0.88[MKK][hapmap]
rs55899032	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920995	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127814	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56192858	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203772	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57202395	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57549677	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58864890	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60492282	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6453079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6453082	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870806	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6877188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6881400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883061	0.88[MKK][hapmap]
rs6883278	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884843	0.85[MKK][hapmap]
rs6894177	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6898684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764630	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764643	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764647	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764648	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764650	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764654	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764655	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764656	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764657	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72764663	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764669	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764675	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764676	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764683	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764684	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764687	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764690	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72766504	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705519	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.83[EUR][1000 genomes]
rs7713812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7732440	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7732843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs957680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9686657	0.83[MKK][hapmap]
rs9765469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs16872323	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs16872323	NSA2	cis	Adipose Subcutaneous	GTEx
rs16872323	GFM2	cis	cerebellum	SCAN
rs16872323	NSA2	cis	lymphoblastoid	seeQTL
rs16872323	TINP1	cis	normal skin	skin_eQTL
rs16872323	WDR41	cis	parietal	SCAN
rs16872323	NSA2	cis	Stomach	GTEx
rs16872323	NSA2	cis	Artery Aorta	GTEx
rs16872323	TINP1	cis	multi-tissue	Pritchard
rs16872323	NSA2	cis	Thyroid	GTEx
rs16872323	NSA2	cis	lung	GTEx
rs16872323	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs16872323	ZBED3	cis	parietal	SCAN
rs16872323	NSA2	cis	Artery Tibial	GTEx
rs16872323	GFM2	cis	parietal	SCAN
rs16872323	NSA2	cis	Muscle Skeletal	GTEx
rs16872323	TINP1	cis	uninvolved skin	skin_eQTL
rs16872323	NSA2	cis	Nerve Tibial	GTEx
rs16872323	NSA2	cis	Esophagus Mucosa	GTEx
rs16872323	NSA2	cis	Esophagus Muscularis	GTEx
rs16872323	TINP1	cis	lesional skin	skin_eQTL
rs16872323	NSA2	cis	parietal	SCAN
rs16872323	NSA2	cis	Whole Blood	GTEx
rs16872323	NSA2	cis	Heart Left Ventricle	GTEx
rs16872323	NSA2	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74069000-74153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:74074800-74143400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:74095800-74146000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:74096000-74137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:74096000-74137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:74097400-74147400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:74101200-74136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:74112800-74144400	Weak transcription	A549	lung
9	chr5:74112800-74144800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:74115200-74137400	Weak transcription	Ovary	ovary
11	chr5:74116200-74146000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:74118400-74139800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:74118800-74139600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:74127400-74148000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:74128600-74135600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:74128800-74135600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:74129600-74134800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:74129600-74135200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:74129600-74137600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:74129800-74136000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:74130400-74137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:74130600-74135400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:74130600-74136000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:74130600-74147000	Weak transcription	HMEC	breast
25	chr5:74130800-74136000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:74130800-74143800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:74131000-74135600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:74131200-74136000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:74131400-74135400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr5:74131400-74137800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:74131400-74140000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:74131800-74135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:74131800-74136200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:74132000-74136200	Strong transcription	HepG2	liver
35	chr5:74132400-74142600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:74132600-74146200	Weak transcription	NHEK	skin
37	chr5:74133200-74139600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:74133800-74134800	Enhancers	Fetal Thymus	thymus
39	chr5:74133800-74135000	Strong transcription	Dnd41	blood
40	chr5:74134000-74134800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:74134000-74135000	Enhancers	Primary T cells from cord blood	blood
42	chr5:74134000-74135000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:74134000-74135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:74134200-74134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:74134200-74134800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:74134200-74134800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:74134200-74135000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:74134200-74135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:74134200-74135200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:74134200-74135200	Strong transcription	Brain Hippocampus Middle	brain

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