Variant report

Variant	rs6974067
Chromosome Location	chr7:150211193-150211194
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	chr7:150211152-150211202	HCT-116	colon:	n/a
2	chr7:150211152-150211202	HRPEpiC	eye:	n/a
3	chr7:150211152-150211202	HNPCEpiC	eye:	n/a
4	chr7:150211152-150211202	PANC-1	pancreas:	n/a
5	chr7:150211152-150211202	LNCaP	prostate:	n/a
6	chr7:150211152-150211202	SK-N-MC	brain:	n/a
7	chr7:150211152-150211202	SAEC	small airway:	n/a
8	chr7:150211152-150211202	K562	blood:	n/a
9	chr7:150211152-150211202	GM12892	blood:	n/a
10	chr7:150211152-150211202	SKMC	muscle:	n/a
11	chr7:150211152-150211202	IMR90	lung:	fetal
12	chr7:150211152-150211202	SK-N-SH_RA	brain:	n/a
13	chr7:150211152-150211202	AG10803	skin:	n/a
14	chr7:150211152-150211202	HAEpiC	amniotic membrane:	n/a
15	chr7:150211152-150211202	ovcar-3	ovarian:	n/a
16	chr7:150211152-150211202	GM06990	blood:	n/a
17	chr7:150211152-150211202	BJ	skin:	n/a
18	chr7:150211152-150211202	HL-60	blood:	n/a
19	chr7:150211152-150211202	CMK	blood:	n/a
20	chr7:150211152-150211202	A549	lung:	n/a
21	chr7:150211152-150211202	MCF-7	breast:	n/a
22	chr7:150211152-150211202	Caco-2	colon:	n/a
23	chr7:150211152-150211202	GM19239	blood:	n/a
24	chr7:150211152-150211202	HIPEpiC	eye:	n/a
25	chr7:150211152-150211202	HUVEC	blood vessel:	n/a
26	chr7:150211152-150211202	PFSK-1	brain:	n/a
27	chr7:150211152-150211202	HCF	heart:	n/a
28	chr7:150211152-150211202	PrEC	prostate:	n/a
29	chr7:150211152-150211202	MCF10A-Er-Src	breast:	n/a
30	chr7:150211152-150211202	HCPEpiC	choroid plexus:	n/a
31	chr7:150211152-150211202	U87	brain:	n/a
32	chr7:150211152-150211202	ProgFib	skin:	n/a
33	chr7:150211152-150211202	NB4	blood:	n/a
34	chr7:150211152-150211202	HRE	kidney:	n/a
35	chr7:150211152-150211202	AG09309	skin:	n/a
36	chr7:150211152-150211202	HEEpiC	esophagus:	n/a
37	chr7:150211152-150211202	AG04449	skin:	fetal
38	chr7:150211152-150211202	HMEC	breast:	n/a
39	chr7:150211152-150211202	GM12878	blood:	n/a
40	chr7:150211152-150211202	HCM	heart:	n/a
41	chr7:150211152-150211202	Jurkat	blood:	n/a
42	chr7:150211152-150211202	Hela-S3	cervix:	n/a
43	chr7:150211152-150211202	NHDF-neo	bronchial:	n/a
44	chr7:150211152-150211202	BE2_C	brain:	n/a
45	chr7:150211152-150211202	NT2-D1	testis:	n/a
46	chr7:150211152-150211202	SK-N-SH	brain:	n/a
47	chr7:150211152-150211202	AG04450	lung:	fetal
48	chr7:150211152-150211202	H1-hESC	embryonic stem cell:	embryo
49	chr7:150211152-150211202	T-47D	breast:	n/a
50	chr7:150211152-150211202	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
GIMAP7	CpG island
STRADBP1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10270302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703076	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4529373	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs58685328	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6973437	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789976	1.00[ASN][1000 genomes]
rs9690254	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6974067	ZNF777	cis	parietal	SCAN
rs6974067	ATP6V0E2	cis	parietal	SCAN
rs6974067	GIMAP4	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150201600-150211200	Weak transcription	Thymus	Thymus
2	chr7:150203800-150211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150210400-150211200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:150210400-150211600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:150210600-150211200	Enhancers	Adipose Nuclei	Adipose
6	chr7:150210600-150211400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:150210600-150211400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150210600-150211400	Enhancers	Fetal Thymus	thymus
9	chr7:150210600-150211600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr7:150210600-150211800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr7:150210600-150211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr7:150210800-150211200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:150210800-150211400	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:150210800-150211600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:150210800-150211600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:150211000-150211200	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:150211000-150211200	Enhancers	Spleen	Spleen
18	chr7:150211000-150211400	Enhancers	Brain Hippocampus Middle	brain
19	chr7:150211000-150211400	Enhancers	Left Ventricle	heart
20	chr7:150211000-150211400	Enhancers	Stomach Smooth Muscle	stomach
21	chr7:150211000-150211600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:150211000-150211600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr7:150211000-150211800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:150211000-150211800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:150211000-150211800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:150211000-150211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:150211000-150212000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr7:150211000-150212000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:150211000-150212000	Flanking Active TSS	Dnd41	blood
30	chr7:150211000-150212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:150211000-150213200	Active TSS	Lung	lung
32	chr7:150211000-150214600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:150211000-150214800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:150211000-150216200	Active TSS	Psoas Muscle	Psoas
35	chr7:150211000-150219000	Active TSS	Right Atrium	heart

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