Variant report

Variant	rs6968343
Chromosome Location	chr7:99951380-99951381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99951261-99951843	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:99950559-99951702	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:99950463-99952202	K562	blood:	n/a	n/a
4	POLR2A	chr7:99950797-99952080	A549	lung:	n/a	n/a
5	RUNX3	chr7:99951280-99951633	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:99951356-99951871	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:99948898-99952059	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:99951358-99951554	GM12878	blood:	n/a	n/a
9	TCF3	chr7:99951314-99951558	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99948893-99952138	GM12891	blood:	n/a	n/a
11	NFIC	chr7:99951228-99951646	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:99951247-99951890	HepG2	liver:	n/a	n/a
13	BHLHE40	chr7:99951366-99951622	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:99948871-99952149	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:99948844-99952197	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:99948863-99952190	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:99948842-99952278	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:99951375-99951670	ECC-1	luminal epithelium:	n/a	n/a
19	EBF1	chr7:99951353-99951583	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:99950970-99951750	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr7:99951112-99953591	K562	blood:	n/a	n/a
22	POLR2A	chr7:99949042-99952214	K562	blood:	n/a	n/a
23	POLR2A	chr7:99951249-99951536	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:99948784-99952128	GM12892	blood:	n/a	n/a
25	EP300	chr7:99951341-99951495	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:99950701-99951861	K562	blood:	n/a	n/a
27	POLR2A	chr7:99950591-99952099	K562	blood:	n/a	n/a
28	POLR2A	chr7:99951126-99951974	Hela-S3	cervix:	n/a	n/a
29	EBF1	chr7:99951241-99951701	GM12878	blood:	n/a	n/a
30	TCF3	chr7:99951244-99951834	GM12878	blood:	n/a	chr7:99951761-99951775
31	POLR2A	chr7:99949389-99953922	HepG2	liver:	n/a	n/a
32	TCF12	chr7:99951344-99951616	GM12878	blood:	n/a	n/a
33	TCF12	chr7:99951276-99951605	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99948891-99952177	GM12891	blood:	n/a	n/a
35	POLR2A	chr7:99951299-99951666	Hela-S3	cervix:	n/a	n/a
36	RUNX3	chr7:99951244-99951633	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:99950458-99952156	K562	blood:	n/a	n/a
38	ZEB1	chr7:99951352-99951675	GM12878	blood:	n/a	chr7:99951480-99951489
39	POLR2A	chr7:99951297-99951586	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:99951025-99951695	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:99949307-99952019	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:99948789-99952284	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr7:99948866-99952179	GM12878	blood:	n/a	n/a
44	EP300	chr7:99951350-99951594	GM12878	blood:	n/a	n/a
45	ATF2	chr7:99951201-99951635	GM12878	blood:	n/a	n/a
46	POU2F2	chr7:99951216-99951599	GM12891	blood:	n/a	n/a
47	POLR2A	chr7:99951049-99952033	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99947085..99950138-chr7:99951110..99954083,3	MCF-7	breast:
2	chr7:99949776..99952306-chr7:99953744..99955368,3	K562	blood:
3	chr7:99949872..99952951-chr7:100026343..100028648,3	K562	blood:

No data

Variant related genes	Relation type
PILRB	TF binding region
ENSG00000235333	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000272752	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10246363	0.88[MKK][hapmap];1.00[YRI][hapmap]
rs10256481	1.00[AMR][1000 genomes]
rs1059126	1.00[AFR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61246011	1.00[AMR][1000 genomes]
rs61611428	1.00[AMR][1000 genomes]
rs68049253	1.00[AMR][1000 genomes]
rs6952735	1.00[ASW][hapmap];0.95[LWK][hapmap];0.86[YRI][hapmap]
rs6958977	1.00[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6967372	0.87[MKK][hapmap]
rs6970350	0.89[ASW][hapmap];1.00[AMR][1000 genomes]
rs73399595	0.97[AFR][1000 genomes]
rs73399601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401410	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401448	1.00[AMR][1000 genomes]
rs73401452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401466	1.00[AMR][1000 genomes]
rs73401469	1.00[AMR][1000 genomes]
rs73401478	1.00[AMR][1000 genomes]
rs73403324	1.00[AMR][1000 genomes]
rs7796885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6968343	PVRIG	cis	lymphoblastoid	seeQTL

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	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
3	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
7	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
8	chr7:99938800-99962400	Strong transcription	Dnd41	blood
9	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
10	chr7:99942600-99960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:99942800-99963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:99942800-99966400	Strong transcription	A549	lung
14	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
16	chr7:99943000-99957200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:99943200-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:99943200-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:99943200-99965400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:99943400-99952800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:99943400-99953800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:99943400-99953800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:99943400-99954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99943400-99955200	Strong transcription	Osteobl	bone
25	chr7:99943400-99960600	Strong transcription	Brain Angular Gyrus	brain
26	chr7:99943400-99961400	Strong transcription	Liver	Liver
27	chr7:99943400-99961600	Strong transcription	HepG2	liver
28	chr7:99943400-99962400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr7:99943400-99963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:99943400-99963200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
33	chr7:99943600-99959600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:99943600-99962200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:99943600-99962400	Strong transcription	Brain Hippocampus Middle	brain
36	chr7:99943600-99962400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:99943600-99962400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:99943800-99954800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr7:99943800-99960000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr7:99943800-99960400	Strong transcription	NHLF	lung
41	chr7:99943800-99960600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr7:99943800-99960800	Strong transcription	Left Ventricle	heart
43	chr7:99943800-99962400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:99943800-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:99943800-99963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:99943800-99963800	Strong transcription	Placenta	Placenta
47	chr7:99944000-99960200	Strong transcription	Gastric	stomach
48	chr7:99944000-99961400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:99944000-99961600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:99944000-99962400	Strong transcription	Placenta Amnion	Placenta Amnion

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