Variant report

Variant	rs73163557
Chromosome Location	chr7:150416695-150416696
allele	C/T
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:1)
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	chr7:150416671-150416721	AG04450	lung:	fetal
2	chr7:150416671-150416721	HCT-116	colon:	n/a
3	chr7:150416671-150416721	AG10803	skin:	n/a
4	chr7:150416671-150416721	GM12892	blood:	n/a
5	chr7:150416671-150416721	AG09319	gingival:	n/a
6	chr7:150416671-150416721	PFSK-1	brain:	n/a
7	chr7:150416671-150416721	U87	brain:	n/a
8	chr7:150416671-150416721	HCF	heart:	n/a
9	chr7:150416671-150416721	HMEC	breast:	n/a
10	chr7:150416671-150416721	HRCEpiC	kidney:	n/a
11	chr7:150416671-150416721	RPTEC	kidney:	n/a
12	chr7:150416671-150416721	MCF-7	breast:	n/a
13	chr7:150416671-150416721	HEEpiC	esophagus:	n/a
14	chr7:150416671-150416721	HRPEpiC	eye:	n/a
15	chr7:150416671-150416721	SK-N-SH	brain:	n/a
16	chr7:150416671-150416721	K562	blood:	n/a
17	chr7:150416671-150416721	T-47D	breast:	n/a
18	chr7:150416671-150416721	AoSMC	blood vessel:	n/a
19	chr7:150416671-150416721	ECC-1	luminal epithelium:	n/a
20	chr7:150416671-150416721	H1-hESC	embryonic stem cell:	embryo
21	chr7:150416671-150416721	Hepatocyte	liver:	n/a
22	chr7:150416671-150416721	Hela-S3	cervix:	n/a
23	chr7:150416671-150416721	HepG2	liver:	n/a
24	chr7:150416671-150416721	HCPEpiC	choroid plexus:	n/a
25	chr7:150416671-150416721	IMR90	lung:	fetal
26	chr7:150416671-150416721	BE2_C	brain:	n/a
27	chr7:150416671-150416721	SK-N-SH_RA	brain:	n/a
28	chr7:150416671-150416721	PANC-1	pancreas:	n/a
29	chr7:150416671-150416721	HUVEC	blood vessel:	n/a
30	chr7:150416671-150416721	HCM	heart:	n/a
31	chr7:150416671-150416721	NH-A	brain:	n/a
32	chr7:150416671-150416721	Caco-2	colon:	n/a
33	chr7:150416671-150416721	ProgFib	skin:	n/a
34	chr7:150416671-150416721	CMK	blood:	n/a
35	chr7:150416671-150416721	BJ	skin:	n/a
36	chr7:150416671-150416721	LNCaP	prostate:	n/a
37	chr7:150416671-150416721	HRE	kidney:	n/a
38	chr7:150416671-150416721	GM19239	blood:	n/a
39	chr7:150416671-150416721	NT2-D1	testis:	n/a
40	chr7:150416671-150416721	GM12878	blood:	n/a
41	chr7:150416671-150416721	HEK293	kidney:	embryo
42	chr7:150416671-150416721	HIPEpiC	eye:	n/a
43	chr7:150416671-150416721	MCF10A-Er-Src	breast:	n/a
44	chr7:150416671-150416721	SKMC	muscle:	n/a
45	chr7:150416671-150416721	HAEpiC	amniotic membrane:	n/a
46	chr7:150416671-150416721	AG09309	skin:	n/a
47	chr7:150416671-150416721	PrEC	prostate:	n/a
48	chr7:150416671-150416721	ovcar-3	ovarian:	n/a
49	chr7:150416671-150416721	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:150416671-150416721	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150412516..150414519-chr7:150415400..150417052,2	K562	blood:

No data

Variant related genes	Relation type
GIMAP5	CpG island
ENSG00000213203	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1016193	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234910	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243000	0.86[EUR][1000 genomes]
rs10243355	0.85[EUR][1000 genomes]
rs10268452	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275039	0.86[EUR][1000 genomes]
rs10275417	0.85[EUR][1000 genomes]
rs10278670	0.84[EUR][1000 genomes]
rs2049248	0.84[EUR][1000 genomes]
rs2241021	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373845	0.86[EUR][1000 genomes]
rs2373846	0.86[EUR][1000 genomes]
rs2373847	0.86[EUR][1000 genomes]
rs4629771	0.85[EUR][1000 genomes]
rs58568453	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944136	0.86[EUR][1000 genomes]
rs6952002	0.82[ASN][1000 genomes]
rs7357320	0.84[EUR][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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150414000-150419400	Weak transcription	Fetal Lung	lung
2	chr7:150414400-150417400	Weak transcription	Esophagus	oesophagus
3	chr7:150414400-150419200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:150414400-150419600	Weak transcription	Gastric	stomach
5	chr7:150414600-150418000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:150414600-150421800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:150415200-150417800	Weak transcription	Colonic Mucosa	Colon
8	chr7:150415200-150419000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:150415200-150419200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:150415200-150419400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:150415200-150420400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
12	chr7:150415200-150424800	Weak transcription	Pancreas	Pancrea
13	chr7:150415400-150417200	Weak transcription	Lung	lung
14	chr7:150415400-150418000	Genic enhancers	Dnd41	blood
15	chr7:150415400-150419000	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:150415400-150419000	Weak transcription	Small Intestine	intestine
17	chr7:150415400-150419200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:150415600-150416800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:150415600-150418000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
20	chr7:150415600-150419600	Weak transcription	Right Ventricle	heart
21	chr7:150415800-150417000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
22	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
24	chr7:150415800-150419400	Weak transcription	Liver	Liver
25	chr7:150415800-150420800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
28	chr7:150416000-150416800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:150416000-150417000	Enhancers	Adipose Nuclei	Adipose
30	chr7:150416000-150417200	Weak transcription	Thymus	Thymus
31	chr7:150416000-150417400	Strong transcription	Primary hematopoietic stem cells	blood
32	chr7:150416000-150417400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:150416000-150417600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:150416000-150417800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr7:150416000-150419200	Weak transcription	Brain Anterior Caudate	brain
36	chr7:150416000-150419400	Strong transcription	Fetal Thymus	thymus
37	chr7:150416000-150420200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:150416200-150417000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
39	chr7:150416200-150417000	Enhancers	Spleen	Spleen
40	chr7:150416200-150417200	Weak transcription	Left Ventricle	heart
41	chr7:150416200-150418200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
42	chr7:150416200-150419000	Strong transcription	HUVEC	blood vessel
43	chr7:150416200-150420600	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:150416200-150420800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr7:150416400-150417200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:150416400-150419400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:150416400-150419400	Weak transcription	Right Atrium	heart
48	chr7:150416400-150419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:150416600-150416800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:150416600-150417000	Enhancers	Sigmoid Colon	Sigmoid Colon

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