Variant report

Variant	rs7795805
Chromosome Location	chr7:99950408-99950409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99949920-99950466	A549	lung:	n/a	n/a
2	POLR2A	chr7:99948898-99952059	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99948893-99952138	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:99949926-99950429	K562	blood:	n/a	n/a
5	TCF3	chr7:99950184-99950548	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:99948871-99952149	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:99948844-99952197	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:99948863-99952190	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:99948842-99952278	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99950207-99950646	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:99949042-99952214	K562	blood:	n/a	n/a
12	POLR2A	chr7:99948784-99952128	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:99949566-99950682	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:99949389-99953922	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:99948891-99952177	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:99950145-99950555	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:99948896-99950957	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:99949307-99952019	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:99948789-99952284	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr7:99948866-99952179	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99949776..99952306-chr7:99953744..99955368,3	K562	blood:
2	chr7:99949872..99952951-chr7:100026343..100028648,3	K562	blood:

Variant related genes	Relation type
PILRB	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000121716	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 42 )

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

rs_ID	r²[population]
rs1000215	0.84[ASN][1000 genomes]
rs10085549	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059129	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1063945	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761253	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761306	1.00[ASN][1000 genomes]
rs11761426	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.84[ASN][1000 genomes]
rs11765869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766917	0.83[ASN][1000 genomes]
rs11768933	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768967	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769057	0.91[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	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771799	1.00[ASN][1000 genomes]
rs11771936	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636980	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964242	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.84[ASN][1000 genomes]
rs2108269	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401739	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28490152	0.84[ASN][1000 genomes]
rs28495773	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660238	0.84[ASN][1000 genomes]
rs28680963	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087502	0.91[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	0.91[EUR][1000 genomes]
rs41280971	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735533	0.91[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	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6946768	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948685	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953749	0.84[ASN][1000 genomes]
rs6955367	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.84[ASN][1000 genomes]
rs6965207	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965458	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.84[ASN][1000 genomes]
rs6975563	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975660	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979910	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705866	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	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401450	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401451	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341507	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783159	0.84[ASN][1000 genomes]
rs7783550	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786844	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792525	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792959	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795656	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799894	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799901	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7799932	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803454	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv888775	chr7:99940307-99961194	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:42)

SNP	Gene	Cis/trans	Tissue	Source
rs7795805	PILRA	cis	Muscle Skeletal	GTEx
rs7795805	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs7795805	PVRIG2P	cis	Nerve Tibial	GTEx
rs7795805	PILRA	cis	Esophagus Muscularis	GTEx
rs7795805	PILRB	cis	Esophagus Mucosa	GTEx
rs7795805	PILRB	cis	Nerve Tibial	GTEx
rs7795805	PILRB	cis	Heart Left Ventricle	GTEx
rs7795805	PVRIG2P	cis	lung	GTEx
rs7795805	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs7795805	PILRB	cis	Artery Tibial	GTEx
rs7795805	PILRA	cis	Thyroid	GTEx
rs7795805	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs7795805	PILRB	cis	lung	GTEx
rs7795805	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs7795805	PILRA	cis	Adipose Subcutaneous	GTEx
rs7795805	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs7795805	STAG3L5P	cis	lung	GTEx
rs7795805	PILRB	cis	Adipose Subcutaneous	GTEx
rs7795805	PILRB	cis	Esophagus Muscularis	GTEx
rs7795805	PILRB	cis	Artery Aorta	GTEx
rs7795805	PILRA	cis	Heart Left Ventricle	GTEx
rs7795805	STAG3L5P	cis	Artery Aorta	GTEx
rs7795805	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs7795805	PILRB	cis	Muscle Skeletal	GTEx
rs7795805	STAG3L5P	cis	Muscle Skeletal	GTEx
rs7795805	PILRB	cis	Whole Blood	GTEx
rs7795805	PILRB	cis	Thyroid	GTEx
rs7795805	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs7795805	STAG3L5P	cis	Artery Tibial	GTEx
rs7795805	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs7795805	PILRA	cis	Esophagus Mucosa	GTEx
rs7795805	PILRA	cis	Artery Aorta	GTEx
rs7795805	STAG3L5P	cis	Stomach	GTEx
rs7795805	PILRA	cis	Nerve Tibial	GTEx
rs7795805	PVRIG2P	cis	Artery Tibial	GTEx
rs7795805	PVRIG2P	cis	Thyroid	GTEx
rs7795805	PVRIG2P	cis	Heart Left Ventricle	GTEx
rs7795805	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs7795805	STAG3L5P	cis	Thyroid	GTEx
rs7795805	STAG3L5P	cis	Nerve Tibial	GTEx
rs7795805	PILRA	cis	Stomach	GTEx
rs7795805	PILRA	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99934200-99950800	Weak transcription	Small Intestine	intestine
3	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
4	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
8	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
9	chr7:99938800-99962400	Strong transcription	Dnd41	blood
10	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
11	chr7:99942600-99960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:99942800-99951000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:99942800-99963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:99942800-99966400	Strong transcription	A549	lung
16	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
18	chr7:99943000-99957200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:99943200-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:99943200-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:99943200-99965400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:99943400-99952800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:99943400-99953800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:99943400-99953800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:99943400-99954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:99943400-99955200	Strong transcription	Osteobl	bone
27	chr7:99943400-99960600	Strong transcription	Brain Angular Gyrus	brain
28	chr7:99943400-99961400	Strong transcription	Liver	Liver
29	chr7:99943400-99961600	Strong transcription	HepG2	liver
30	chr7:99943400-99962400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:99943400-99963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:99943400-99963200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
35	chr7:99943600-99951200	Strong transcription	HSMMtube	muscle
36	chr7:99943600-99959600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr7:99943600-99962200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:99943600-99962400	Strong transcription	Brain Hippocampus Middle	brain
39	chr7:99943600-99962400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr7:99943600-99962400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:99943800-99950800	Strong transcription	Thymus	Thymus
42	chr7:99943800-99954800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr7:99943800-99960000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr7:99943800-99960400	Strong transcription	NHLF	lung
45	chr7:99943800-99960600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr7:99943800-99960800	Strong transcription	Left Ventricle	heart
47	chr7:99943800-99962400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:99943800-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:99943800-99963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:99943800-99963800	Strong transcription	Placenta	Placenta

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