Variant report

Variant	rs6975563
Chromosome Location	chr7:99974968-99974969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99961248..99963871-chr7:99971979..99975112,4	K562	blood:
2	chr7:99974887..99976892-chr7:99985893..99988252,2	K562	blood:
3	chr7:99974792..99977177-chr7:100024957..100027235,2	MCF-7	breast:
4	chr7:99972292..99975161-chr7:100006674..100009512,2	K562	blood:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 47 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000215	0.84[ASN][1000 genomes]
rs10085549	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059129	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1063945	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761253	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761306	1.00[ASN][1000 genomes]
rs11761426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.84[ASN][1000 genomes]
rs11765869	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766917	0.83[ASN][1000 genomes]
rs11768933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768967	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769057	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769886	0.84[ASN][1000 genomes]
rs11771241	0.84[ASN][1000 genomes]
rs11771419	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771799	1.00[ASN][1000 genomes]
rs11771936	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636980	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964242	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.84[ASN][1000 genomes]
rs2108269	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401739	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28490152	0.84[ASN][1000 genomes]
rs28495773	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660238	0.84[ASN][1000 genomes]
rs28680963	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087502	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111986	0.84[ASN][1000 genomes]
rs35986051	1.00[ASN][1000 genomes]
rs3900792	0.84[ASN][1000 genomes]
rs3991498	0.83[EUR][1000 genomes]
rs3991564	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41280971	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735533	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66632384	0.84[ASN][1000 genomes]
rs67163493	0.84[ASN][1000 genomes]
rs67315960	0.84[ASN][1000 genomes]
rs67471932	0.84[ASN][1000 genomes]
rs68116612	0.84[ASN][1000 genomes]
rs6945952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6946768	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953749	0.84[ASN][1000 genomes]
rs6955367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.84[ASN][1000 genomes]
rs6965207	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965458	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.84[ASN][1000 genomes]
rs6975660	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979910	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705866	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161745	0.85[ASN][1000 genomes]
rs73161759	0.84[ASN][1000 genomes]
rs73161762	0.84[ASN][1000 genomes]
rs73401443	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783159	0.84[ASN][1000 genomes]
rs7783550	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786844	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792525	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792959	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795656	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795805	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799894	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799901	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7799932	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803454	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:47)

SNP	Gene	Cis/trans	Tissue	Source
rs6975563	PILRB	cis	Artery Aorta	GTEx
rs6975563	PVRIG2P	cis	Heart Left Ventricle	GTEx
rs6975563	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs6975563	PILRB	cis	Artery Tibial	GTEx
rs6975563	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs6975563	PILRA	cis	Artery Aorta	GTEx
rs6975563	PILRA	cis	Artery Tibial	GTEx
rs6975563	PVRIG2P	cis	lung	GTEx
rs6975563	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs6975563	PILRB	cis	Esophagus Mucosa	GTEx
rs6975563	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs6975563	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs6975563	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs6975563	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs6975563	STAG3L5P	cis	Nerve Tibial	GTEx
rs6975563	STAG3L5P	cis	Stomach	GTEx
rs6975563	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs6975563	PILRA	cis	Esophagus Muscularis	GTEx
rs6975563	PILRB	cis	Whole Blood	GTEx
rs6975563	PILRB	cis	Muscle Skeletal	GTEx
rs6975563	PILRA	cis	Nerve Tibial	GTEx
rs6975563	PILRA	cis	Muscle Skeletal	GTEx
rs6975563	STAG3L5P	cis	Thyroid	GTEx
rs6975563	PILRB	cis	Adipose Subcutaneous	GTEx
rs6975563	PILRA	cis	Adipose Subcutaneous	GTEx
rs6975563	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs6975563	STAG3L5P	cis	lung	GTEx
rs6975563	PILRB	cis	Thyroid	GTEx
rs6975563	PVRIG2P	cis	Thyroid	GTEx
rs6975563	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs6975563	PVRIG2P	cis	Nerve Tibial	GTEx
rs6975563	PILRA	cis	Stomach	GTEx
rs6975563	PILRB	cis	lung	GTEx
rs6975563	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs6975563	STAG3L5P	cis	Artery Tibial	GTEx
rs6975563	STAG3L5P	cis	Muscle Skeletal	GTEx
rs6975563	PILRB	cis	Esophagus Muscularis	GTEx
rs6975563	PILRB	cis	Stomach	GTEx
rs6975563	PILRB	cis	Nerve Tibial	GTEx
rs6975563	PILRA	cis	Esophagus Mucosa	GTEx
rs6975563	PILRA	cis	Heart Left Ventricle	GTEx
rs6975563	STAG3L5P	cis	Artery Aorta	GTEx
rs6975563	PVRIG2P	cis	Artery Tibial	GTEx
rs6975563	PILRA	cis	Thyroid	GTEx
rs6975563	PILRB	cis	Heart Left Ventricle	GTEx
rs6975563	PVRIG2P	cis	Esophagus Muscularis	GTEx
rs6975563	PMS2P1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
3	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
5	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
8	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99964800-99977600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:99965200-99976800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:99965200-99979200	Weak transcription	Right Ventricle	heart
14	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:99969400-99982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:99969800-99977000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:99970200-99978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:99970400-99982400	Weak transcription	Hela-S3	cervix
19	chr7:99970600-99978800	Weak transcription	Primary T cells from cord blood	blood
20	chr7:99970800-99981600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:99971000-99975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:99971000-99975400	Weak transcription	Lung	lung
23	chr7:99971000-99977600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:99971000-99979600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:99971400-99976800	Weak transcription	Placenta	Placenta
26	chr7:99971400-99977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:99971400-99978000	Weak transcription	Fetal Stomach	stomach
28	chr7:99971400-99981600	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:99971600-99976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:99971600-99976400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:99972000-99975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:99972200-99977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:99972200-99984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:99972600-99976800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:99972600-99977400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:99972800-99978000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:99972800-99979800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:99972800-99987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:99972800-99994800	Weak transcription	Spleen	Spleen
41	chr7:99973000-99981600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:99973000-99999400	Weak transcription	Brain Anterior Caudate	brain
43	chr7:99973200-99975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:99973600-99987400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:99974000-99975400	Weak transcription	GM12878-XiMat	blood
46	chr7:99974000-99977400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:99974000-99980200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:99974000-99980200	Weak transcription	K562	blood
49	chr7:99974400-99976000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:99974600-99975400	Enhancers	Primary B cells from cord blood	blood

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