Variant report

Variant	rs1727132
Chromosome Location	chr7:99812297-99812298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:99812190-99812322	K562	blood:	n/a	n/a
2	CTCF	chr7:99812158-99812353	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:99812161-99812353	GM19240	blood:	n/a	n/a
4	RAD21	chr7:99812047-99812407	H1-hESC	embryonic stem cell:	n/a	chr7:99812208-99812215
5	POLR2A	chr7:99811114-99813826	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:99811952-99812340	GM12891	blood:	n/a	n/a
7	MAX	chr7:99812228-99812412	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:99811896-99812769	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr7:99812210-99812298	NHEK	skin:	n/a	n/a
10	MYC	chr7:99812167-99812394	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:99812212-99812310	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:99812160-99812310	GM12874	blood:	n/a	n/a
13	USF1	chr7:99812189-99812373	K562	blood:	n/a	n/a
14	MAX	chr7:99812102-99812398	K562	blood:	n/a	n/a
15	CTCF	chr7:99812155-99812345	GM12892	blood:	n/a	n/a
16	CTCF	chr7:99812029-99812394	K562	blood:	n/a	chr7:99812101-99812109
17	POLR2A	chr7:99811865-99812664	GM12891	blood:	n/a	n/a
18	CTCF	chr7:99812204-99812330	GM10266	blood:	n/a	n/a
19	POLR2A	chr7:99811937-99812458	PANC-1	pancreas:	n/a	n/a
20	CTCF	chr7:99812159-99812323	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:99812277-99812325	K562	blood:	n/a	n/a
22	POLR2A	chr7:99812168-99812853	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:99811637-99812933	GM12892	blood:	n/a	n/a
24	USF1	chr7:99812153-99812371	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:99812180-99812330	NHEK	skin:	n/a	n/a
26	MYC	chr7:99812188-99812349	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:99812229-99812313	A549	lung:	n/a	n/a
28	POLR2A	chr7:99811985-99812335	GM12878	blood:	n/a	n/a
29	CTCF	chr7:99812099-99812391	GM12878	blood:	n/a	chr7:99812101-99812109
30	CTCF	chr7:99812180-99812330	GM12872	blood:	n/a	n/a
31	POLR2A	chr7:99811847-99813112	GM12892	blood:	n/a	n/a
32	POLR2A	chr7:99811356-99812857	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:99810553-99812339	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr7:99812124-99812336	Raji	blood:	n/a	n/a
35	CTCF	chr7:99812132-99812359	MCF-7	breast:	n/a	n/a
36	POLR2A	chr7:99811112-99813917	GM12878	blood:	n/a	n/a
37	CTCF	chr7:99812178-99812355	GM12891	blood:	n/a	n/a
38	CTCF	chr7:99812148-99812352	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:99812180-99812330	MCF-7	breast:	n/a	n/a
40	CTCF	chr7:99812172-99812367	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:99812180-99812330	SAEC	small airway:	n/a	n/a
42	CTCF	chr7:99812167-99812307	HepG2	liver:	n/a	n/a
43	CTCF	chr7:99812158-99812366	MCF-7	breast:	n/a	n/a
44	FOSL2	chr7:99810989-99812412	HepG2	liver:	n/a	n/a
45	CTCF	chr7:99812162-99812351	GM19238	blood:	n/a	n/a
46	POLR2A	chr7:99811853-99812671	GM12891	blood:	n/a	n/a
47	POLR2A	chr7:99811486-99812703	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:99811922-99812309	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr7:99812240-99812390	GM12871	blood:	n/a	n/a
50	POLR2A	chr7:99811956-99812354	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99760958..99763450-chr7:99810400..99812602,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239521	TF binding region
PVRIG	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10252884	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1043915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1052482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138417	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764176	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12666107	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666425	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13230744	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1617502	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1618851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623264	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628077	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1636975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636988	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1637001	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727122	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1727123	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727125	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1727128	0.82[AFR][1000 genomes]
rs1727130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727134	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1727138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1727140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1727142	0.97[EUR][1000 genomes]
rs2005763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141160	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2257213	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272345	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2528900	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2906645	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2906646	0.82[AFR][1000 genomes]
rs2950517	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2950520	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779045	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779046	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3823642	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4729579	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55796551	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57966707	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6465764	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465765	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6948729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7788301	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811662	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs858505	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858506	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs858507	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs858508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858509	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858510	0.81[AFR][1000 genomes]
rs858511	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs858512	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858513	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858514	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs863450	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs866500	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941287	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	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
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1727132	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs1727132	GATS	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:99796400-99813000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:99796800-99816800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:99796800-99817000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:99799000-99816600	Weak transcription	Fetal Brain Female	brain
6	chr7:99801400-99826000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:99803000-99816800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:99803200-99813600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:99805200-99818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99805600-99812800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:99806000-99812400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:99806800-99819000	Weak transcription	Fetal Lung	lung
13	chr7:99807200-99828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
15	chr7:99807400-99815200	Weak transcription	Pancreas	Pancrea
16	chr7:99807600-99818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:99808000-99815200	Enhancers	Primary B cells from cord blood	blood
18	chr7:99808400-99813600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:99809000-99813400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:99809000-99817600	Weak transcription	Small Intestine	intestine
21	chr7:99809200-99813000	Enhancers	Primary T cells from cord blood	blood
22	chr7:99809200-99817600	Weak transcription	Colonic Mucosa	Colon
23	chr7:99809200-99834800	Weak transcription	HSMMtube	muscle
24	chr7:99809400-99815000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:99809400-99817600	Weak transcription	Spleen	Spleen
26	chr7:99809400-99818200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:99809600-99812400	Enhancers	Fetal Intestine Small	intestine
28	chr7:99809600-99815000	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:99809600-99815000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:99809600-99815200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:99809600-99816800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:99809600-99817600	Weak transcription	Dnd41	blood
33	chr7:99809600-99818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:99809800-99813800	Enhancers	Thymus	Thymus
35	chr7:99809800-99814400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:99809800-99815000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:99809800-99815000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:99809800-99815000	Enhancers	Fetal Thymus	thymus
39	chr7:99810000-99813000	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:99810000-99813400	Weak transcription	Fetal Stomach	stomach
41	chr7:99810000-99813600	Enhancers	GM12878-XiMat	blood
42	chr7:99810000-99814400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:99810000-99815000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:99810000-99815000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:99810600-99813800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:99810600-99813800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:99810600-99815200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
49	chr7:99810800-99816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:99811000-99813000	Weak transcription	Brain Cingulate Gyrus	brain

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