Variant report

Variant	rs6965571
Chromosome Location	chr7:150434472-150434473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr7:150434239-150434617	GM12878	blood:	n/a	chr7:150434436-150434451 chr7:150434439-150434448 chr7:150434439-150434453 chr7:150434438-150434451
2	SRF	chr7:150434296-150434719	GM12878	blood:	n/a	n/a
3	BHLHE40	chr7:150434401-150434601	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:150434287-150436204	GM12891	blood:	n/a	n/a
5	SPI1	chr7:150434271-150434551	GM12891	blood:	n/a	n/a
6	TBL1XR1	chr7:150434458-150434669	GM12878	blood:	n/a	n/a
7	SPI1	chr7:150434270-150434634	HL-60	blood:	n/a	n/a
8	POLR2A	chr7:150434395-150434843	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:150434050-150436345	GM12892	blood:	n/a	n/a
10	SPI1	chr7:150434172-150434664	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:150434373-150435129	GM12878	blood:	n/a	n/a
12	ELK1	chr7:150434256-150434706	GM12878	blood:	n/a	n/a
13	CUX1	chr7:150434468-150434661	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:150434332-150436034	GM12892	blood:	n/a	n/a
15	STAT5A	chr7:150434253-150435285	GM12878	blood:	n/a	n/a
16	TAF1	chr7:150434397-150434793	GM12891	blood:	n/a	n/a
17	STAT1	chr7:150434435-150434491	GM12878	blood:	n/a	n/a
18	ATF2	chr7:150434209-150435147	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:150434416-150435062	GM12878	blood:	n/a	n/a
20	ZNF384	chr7:150434245-150434636	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150434375-150434922	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:150434219-150435076	GM12878	blood:	n/a	n/a
23	TBP	chr7:150434451-150434834	GM12878	blood:	n/a	n/a
24	WRNIP1	chr7:150434271-150435212	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:150434081-150436563	GM12892	blood:	n/a	n/a
26	RUNX3	chr7:150434322-150435186	GM12878	blood:	n/a	n/a
27	SPI1	chr7:150434281-150434483	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150433739-150436135	GM12891	blood:	n/a	n/a
29	SPI1	chr7:150434181-150434851	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:150434362-150435091	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:150434323-150435508	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:150434201-150436185	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:150433977-150436489	GM12892	blood:	n/a	n/a
34	POLR2A	chr7:150434082-150436015	GM18505	blood:	n/a	n/a
35	MTA3	chr7:150433963-150436163	GM12878	blood:	n/a	n/a
36	SRF	chr7:150434317-150434526	GM12878	blood:	n/a	n/a
37	SRF	chr7:150434318-150434599	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:150434252-150435970	GM12891	blood:	n/a	n/a
39	ELF1	chr7:150434361-150434813	GM12878	blood:	n/a	n/a
40	SPI1	chr7:150434215-150434597	GM12878	blood:	n/a	n/a
41	PML	chr7:150434451-150434931	GM12878	blood:	n/a	n/a
42	SPI1	chr7:150434131-150434801	HL-60	blood:	n/a	n/a
43	EBF1	chr7:150434423-150434605	GM12878	blood:	n/a	n/a
44	SRF	chr7:150434310-150434548	GM12878	blood:	n/a	n/a
45	RCOR1	chr7:150434370-150434658	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150434471-150434521	ECC-1	luminal epithelium:	n/a
2	chr7:150434452-150434502	HepG2	liver:	n/a
3	chr7:150434471-150434521	HCT-116	colon:	n/a
4	chr7:150434452-150434502	HEK293	kidney:	embryo
5	chr7:150434471-150434521	GM12892	blood:	n/a
6	chr7:150434471-150434521	NHDF-neo	bronchial:	n/a
7	chr7:150434452-150434502	SK-N-SH	brain:	n/a
8	chr7:150434471-150434521	Jurkat	blood:	n/a
9	chr7:150434471-150434521	H1-hESC	embryonic stem cell:	embryo
10	chr7:150434471-150434521	IMR90	lung:	fetal
11	chr7:150434452-150434502	SKMC	muscle:	n/a
12	chr7:150434471-150434521	HCPEpiC	choroid plexus:	n/a
13	chr7:150434452-150434502	HCM	heart:	n/a
14	chr7:150434452-150434502	HNPCEpiC	eye:	n/a
15	chr7:150434452-150434502	HMEC	breast:	n/a
16	chr7:150434452-150434502	NH-A	brain:	n/a
17	chr7:150434452-150434502	HRCEpiC	kidney:	n/a
18	chr7:150434452-150434502	HIPEpiC	eye:	n/a
19	chr7:150434452-150434502	IMR90	lung:	fetal
20	chr7:150434471-150434521	PrEC	prostate:	n/a
21	chr7:150434471-150434521	GM12891	blood:	n/a
22	chr7:150434452-150434502	HL-60	blood:	n/a
23	chr7:150434471-150434521	HEK293	kidney:	embryo
24	chr7:150434471-150434521	HCF	heart:	n/a
25	chr7:150434471-150434521	SK-N-SH	brain:	n/a
26	chr7:150434471-150434521	NHBE	bronchial:	n/a
27	chr7:150434452-150434502	AoSMC	blood vessel:	n/a
28	chr7:150434471-150434521	A549	lung:	n/a
29	chr7:150434471-150434521	MCF-7	breast:	n/a
30	chr7:150434452-150434502	AG09309	skin:	n/a
31	chr7:150434471-150434521	HRCEpiC	kidney:	n/a
32	chr7:150434471-150434521	LNCaP	prostate:	n/a
33	chr7:150434452-150434502	PANC-1	pancreas:	n/a
34	chr7:150434471-150434521	SAEC	small airway:	n/a
35	chr7:150434471-150434521	K562	blood:	n/a
36	chr7:150434452-150434502	NHDF-neo	bronchial:	n/a
37	chr7:150434471-150434521	AG10803	skin:	n/a
38	chr7:150434452-150434502	HRE	kidney:	n/a
39	chr7:150434452-150434502	SK-N-MC	brain:	n/a
40	chr7:150434452-150434502	GM06990	blood:	n/a
41	chr7:150434452-150434502	ovcar-3	ovarian:	n/a
42	chr7:150434471-150434521	HUVEC	blood vessel:	n/a
43	chr7:150434471-150434521	ovcar-3	ovarian:	n/a
44	chr7:150434452-150434502	HEEpiC	esophagus:	n/a
45	chr7:150434471-150434521	HL-60	blood:	n/a
46	chr7:150434452-150434502	GM19239	blood:	n/a
47	chr7:150434471-150434521	T-47D	breast:	n/a
48	chr7:150434471-150434521	AG04450	lung:	fetal
49	chr7:150434452-150434502	HCPEpiC	choroid plexus:	n/a
50	chr7:150434452-150434502	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150433868..150435484-chr7:150436619..150439022,2	MCF-7	breast:

No data

Variant related genes	Relation type
GIMAP5	TF binding region
GIMAP5	CpG island
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10280499	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11769454	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973400	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173583	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058446	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58313703	1.00[ASN][1000 genomes]
rs58803836	1.00[ASN][1000 genomes]
rs59004814	1.00[ASN][1000 genomes]
rs66743416	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741069	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657879	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6965571	GIMAP4	cis	parietal	SCAN
rs6965571	TMEM176A	cis	Whole Blood	GTEx
rs6965571	ATP6V0E2	cis	parietal	SCAN
rs6965571	TMEM176B	cis	Whole Blood	GTEx
rs6965571	GIMAP5	cis	normal skin	skin_eQTL
rs6965571	GIMAP7	cis	parietal	SCAN
rs6965571	CHPF2	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150432600-150435000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:150433000-150434800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:150433600-150434800	Weak transcription	Small Intestine	intestine
4	chr7:150433800-150434600	Flanking Active TSS	Dnd41	blood
5	chr7:150433800-150435400	Active TSS	Liver	Liver
6	chr7:150433800-150436800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:150433800-150439200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:150434000-150434600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:150434000-150434800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:150434000-150435200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr7:150434000-150435800	Active TSS	Gastric	stomach
12	chr7:150434000-150435800	Active TSS	Spleen	Spleen
13	chr7:150434000-150436200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:150434000-150436800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:150434000-150436800	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:150434000-150437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150434000-150437200	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr7:150434000-150437400	Active TSS	Brain Anterior Caudate	brain
19	chr7:150434000-150437400	Active TSS	Colonic Mucosa	Colon
20	chr7:150434000-150437600	Active TSS	Lung	lung
21	chr7:150434000-150437600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:150434000-150437600	Active TSS	Right Ventricle	heart
23	chr7:150434000-150437800	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:150434000-150438000	Active TSS	Right Atrium	heart
25	chr7:150434200-150434800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:150434200-150435400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr7:150434200-150435800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:150434200-150435800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr7:150434200-150435800	Bivalent/Poised TSS	Placenta	Placenta
30	chr7:150434200-150435800	Active TSS	Pancreas	Pancrea
31	chr7:150434200-150436000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:150434200-150436000	Active TSS	Esophagus	oesophagus
33	chr7:150434200-150436200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:150434200-150437000	Active TSS	Primary T cells from cord blood	blood
35	chr7:150434200-150437200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150434200-150437200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr7:150434200-150437400	Active TSS	Primary T cells fromperipheralblood	blood
38	chr7:150434200-150437600	Active TSS	Brain Hippocampus Middle	brain
39	chr7:150434200-150437600	Active TSS	Left Ventricle	heart
40	chr7:150434200-150437600	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:150434200-150437800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:150434200-150437800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr7:150434200-150438000	Active TSS	Duodenum Mucosa	Duodenum
44	chr7:150434200-150438000	Active TSS	Psoas Muscle	Psoas
45	chr7:150434400-150434600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr7:150434400-150434600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr7:150434400-150434600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:150434400-150434600	Enhancers	Fetal Heart	heart
49	chr7:150434400-150434600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:150434400-150434600	Flanking Active TSS	Fetal Lung	lung

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