Variant report

Variant	rs16958970
Chromosome Location	chr16:69627793-69627794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69626084..69628621-chr16:69630498..69632392,2	MCF-7	breast:
2	chr16:69598077..69601503-chr16:69626680..69629192,3	K562	blood:
3	chr16:69598077..69601688-chr16:69626647..69629635,5	K562	blood:
4	chr16:69626497..69629815-chr16:69635575..69638165,3	K562	blood:
5	chr16:69620967..69623720-chr16:69625732..69628226,3	K562	blood:
6	chr16:69618114..69619949-chr16:69626325..69629479,3	K562	blood:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10048108	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10163235	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10454066	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[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10500551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852457	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10852458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075727	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075730	0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs11075734	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs11639947	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11641050	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11641233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11642030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11642115	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11643240	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11643530	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11646884	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11648249	0.88[ASN][1000 genomes]
rs12232410	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12447326	0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.99[ASN][1000 genomes]
rs12447883	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12449005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595869	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[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12595878	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595927	0.80[EUR][1000 genomes]
rs12596679	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs12596823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337236	0.90[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1437136	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16959025	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs16959035	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800566	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[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1865965	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2118220	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161631	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2196574	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2217950	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2361838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2361839	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3169315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3743673	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3885612	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464069	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs4497676	1.00[CEU][hapmap]
rs4985518	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs4985523	1.00[CEU][hapmap]
rs55751101	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56256040	0.80[AMR][1000 genomes]
rs56316408	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57488237	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57565297	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60010276	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60099379	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60472033	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61310815	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61460899	0.89[ASN][1000 genomes]
rs6499239	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs689455	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs689460	0.81[YRI][hapmap]
rs7186002	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7187653	1.00[CEU][hapmap]
rs7190652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194753	1.00[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs7196943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7198242	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7200935	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs72783115	0.88[ASN][1000 genomes]
rs74026882	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74029403	0.89[EUR][1000 genomes]
rs8045142	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8045682	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs8045705	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8046314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8047885	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052086	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053080	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8054000	0.91[ASN][1000 genomes]
rs8054096	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8060588	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs920191	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9788803	0.90[ASN][1000 genomes]
rs9788837	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9921045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9929720	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs9933526	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9940548	0.99[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs16958970	HPR	cis	parietal	SCAN
rs16958970	NRN1L	cis	cerebellum	SCAN
rs16958970	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs16958970	HPR	cis	cerebellum	SCAN
rs16958970	TPPP3	cis	parietal	SCAN
rs16958970	SLC7A6	cis	cerebellum	SCAN
rs16958970	FAM96B	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69602000-69633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:69602200-69628600	Weak transcription	Right Atrium	heart
3	chr16:69602200-69631600	Weak transcription	Pancreas	Pancrea
4	chr16:69602200-69643200	Weak transcription	Fetal Muscle Leg	muscle
5	chr16:69602200-69646600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:69602200-69653600	Weak transcription	Fetal Thymus	thymus
7	chr16:69602600-69628600	Weak transcription	Thymus	Thymus
8	chr16:69602600-69628800	Weak transcription	Right Ventricle	heart
9	chr16:69602600-69629600	Weak transcription	HSMMtube	muscle
10	chr16:69602600-69630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:69602600-69630800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:69602800-69627800	Weak transcription	Fetal Kidney	kidney
13	chr16:69602800-69629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:69603000-69627800	Weak transcription	Brain Substantia Nigra	brain
15	chr16:69603000-69647400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:69603200-69627800	Weak transcription	Primary B cells from cord blood	blood
17	chr16:69603200-69629600	Weak transcription	NH-A	brain
18	chr16:69603600-69629200	Weak transcription	HUVEC	blood vessel
19	chr16:69603600-69660000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:69604000-69627800	Weak transcription	Fetal Lung	lung
21	chr16:69604000-69628000	Weak transcription	Primary T cells from cord blood	blood
22	chr16:69604000-69629000	Weak transcription	NHLF	lung
23	chr16:69605400-69629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:69605400-69663200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:69605600-69660600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:69610600-69629200	Weak transcription	Aorta	Aorta
27	chr16:69610800-69628600	Weak transcription	Left Ventricle	heart
28	chr16:69610800-69630800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:69610800-69642000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:69611000-69628000	Weak transcription	Brain Angular Gyrus	brain
31	chr16:69611000-69628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:69611000-69629200	Weak transcription	HMEC	breast
33	chr16:69611200-69627800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:69611200-69645600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr16:69611600-69628000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:69611600-69628400	Weak transcription	NHDF-Ad	bronchial
37	chr16:69611600-69629000	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:69611800-69628800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:69611800-69629200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr16:69612400-69643800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:69612600-69628000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:69612600-69629000	Weak transcription	NHEK	skin
43	chr16:69614000-69643200	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:69614000-69644400	Weak transcription	Adipose Nuclei	Adipose
45	chr16:69614600-69627800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:69615600-69629200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:69617600-69653400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:69617800-69629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:69617800-69629200	Weak transcription	Hela-S3	cervix
50	chr16:69617800-69646600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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