Variant report

Variant	rs34363376
Chromosome Location	chr7:65939536-65939537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65939507-65939557	HMEC	breast:	n/a
2	chr7:65939507-65939557	AG09319	gingival:	n/a
3	chr7:65939507-65939557	PrEC	prostate:	n/a
4	chr7:65939507-65939557	U87	brain:	n/a
5	chr7:65939507-65939557	GM19239	blood:	n/a
6	chr7:65939507-65939557	AG09309	skin:	n/a
7	chr7:65939507-65939557	NH-A	brain:	n/a
8	chr7:65939507-65939557	BJ	skin:	n/a
9	chr7:65939507-65939557	Caco-2	colon:	n/a
10	chr7:65939507-65939557	HNPCEpiC	eye:	n/a
11	chr7:65939507-65939557	HL-60	blood:	n/a
12	chr7:65939507-65939557	HepG2	liver:	n/a
13	chr7:65939507-65939557	T-47D	breast:	n/a
14	chr7:65939507-65939557	A549	lung:	n/a
15	chr7:65939507-65939557	GM12891	blood:	n/a
16	chr7:65939507-65939557	BE2_C	brain:	n/a
17	chr7:65939507-65939557	Hela-S3	cervix:	n/a
18	chr7:65939507-65939557	AG10803	skin:	n/a
19	chr7:65939507-65939557	HEEpiC	esophagus:	n/a
20	chr7:65939507-65939557	SK-N-MC	brain:	n/a
21	chr7:65939507-65939557	HUVEC	blood vessel:	n/a
22	chr7:65939507-65939557	HAEpiC	amniotic membrane:	n/a
23	chr7:65939507-65939557	HCT-116	colon:	n/a
24	chr7:65939507-65939557	HRCEpiC	kidney:	n/a
25	chr7:65939507-65939557	PANC-1	pancreas:	n/a
26	chr7:65939507-65939557	NHDF-neo	bronchial:	n/a
27	chr7:65939507-65939557	SK-N-SH	brain:	n/a
28	chr7:65939507-65939557	HEK293	kidney:	embryo
29	chr7:65939507-65939557	GM12878	blood:	n/a
30	chr7:65939507-65939557	HIPEpiC	eye:	n/a
31	chr7:65939507-65939557	PFSK-1	brain:	n/a
32	chr7:65939507-65939557	NB4	blood:	n/a
33	chr7:65939507-65939557	ECC-1	luminal epithelium:	n/a
34	chr7:65939507-65939557	IMR90	lung:	fetal
35	chr7:65939507-65939557	K562	blood:	n/a
36	chr7:65939507-65939557	HRE	kidney:	n/a
37	chr7:65939507-65939557	NT2-D1	testis:	n/a
38	chr7:65939507-65939557	LNCaP	prostate:	n/a
39	chr7:65939507-65939557	ovcar-3	ovarian:	n/a
40	chr7:65939507-65939557	AoSMC	blood vessel:	n/a
41	chr7:65939507-65939557	AG04450	lung:	fetal
42	chr7:65939507-65939557	SAEC	small airway:	n/a
43	chr7:65939507-65939557	GM12892	blood:	n/a
44	chr7:65939507-65939557	MCF-7	breast:	n/a
45	chr7:65939507-65939557	Hepatocyte	liver:	n/a
46	chr7:65939507-65939557	ProgFib	skin:	n/a
47	chr7:65939507-65939557	HCPEpiC	choroid plexus:	n/a
48	chr7:65939507-65939557	H1-hESC	embryonic stem cell:	embryo
49	chr7:65939507-65939557	RPTEC	kidney:	n/a
50	chr7:65939507-65939557	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
ENSG00000267941	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1267816	0.81[EUR][1000 genomes]
rs1267819	0.81[EUR][1000 genomes]
rs1267820	0.81[EUR][1000 genomes]
rs13222887	0.84[AMR][1000 genomes]
rs13224048	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13235972	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13237037	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241548	0.82[EUR][1000 genomes]
rs13242216	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1796220	0.81[EUR][1000 genomes]
rs1796228	0.81[EUR][1000 genomes]
rs2533288	0.81[EUR][1000 genomes]
rs2707831	0.81[EUR][1000 genomes]
rs2707844	0.81[EUR][1000 genomes]
rs34192067	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34700450	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34807232	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35261784	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35823062	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35825036	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36104268	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58668827	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58669269	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71563118	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73150635	0.83[ASN][1000 genomes]
rs778679	0.82[EUR][1000 genomes]
rs778691	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778693	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778701	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778704	0.91[EUR][1000 genomes];0.86[ASN][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1802195	chr7:65886451-65945211	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs34363376	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34363376	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs34363376	RP4-756H11.3	cis	lung	GTEx
rs34363376	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs34363376	GUSB	cis	Whole Blood	GTEx
rs34363376	ASL	cis	multi-tissue	Pritchard
rs34363376	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:65879200-65946000	Weak transcription	NHEK	skin
3	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
4	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
6	chr7:65906000-65940200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:65910200-65940000	Weak transcription	Placenta	Placenta
8	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
9	chr7:65912000-65944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
11	chr7:65915800-65954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:65917800-65939600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:65920600-65939600	Weak transcription	GM12878-XiMat	blood
15	chr7:65925000-65940400	Weak transcription	Brain Angular Gyrus	brain
16	chr7:65925000-65948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:65925000-65957200	Weak transcription	Dnd41	blood
18	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
19	chr7:65925400-65955400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:65925400-65957200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:65926800-65940000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:65927600-65950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
25	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:65931800-65939800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:65932400-65939800	Weak transcription	HepG2	liver
28	chr7:65932800-65940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:65934200-65939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:65934600-65942200	Weak transcription	Stomach Mucosa	stomach
31	chr7:65934600-65955200	Weak transcription	HMEC	breast
32	chr7:65935800-65957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:65936800-65942600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:65936800-65943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:65937200-65957200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:65937200-65957200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:65937200-65957600	Weak transcription	HSMMtube	muscle
38	chr7:65937400-65943000	Weak transcription	Fetal Thymus	thymus
39	chr7:65937400-65946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:65937400-65957200	Weak transcription	Right Atrium	heart
41	chr7:65937600-65940000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:65937600-65946800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:65937600-65958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:65937800-65939600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:65937800-65956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:65937800-65957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:65937800-65957800	Weak transcription	Fetal Kidney	kidney
48	chr7:65937800-65957800	Weak transcription	Small Intestine	intestine
49	chr7:65938200-65939800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:65938200-65940600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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