Variant report

Variant	rs73478613
Chromosome Location	chr7:150869966-150869967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150869567..150870218-chr7:151008807..151009340,2	MCF-7	breast:
2	chr7:150659474..150661076-chr7:150869323..150870357,10	MCF-7	breast:
3	chr7:150475667..150476488-chr7:150869279..150870505,6	K562	blood:
4	chr7:150868708..150870235-chr7:150880029..150882715,2	K562	blood:
5	chr7:150869799..150870438-chr7:151000265..151000938,3	MCF-7	breast:
6	chr7:150869400..150870347-chr7:150941097..150942121,7	K562	blood:
7	chr7:150857529..150858097-chr7:150869655..150870239,2	MCF-7	breast:
8	chr7:150788232..150789119-chr7:150869345..150870245,2	K562	blood:
9	chr7:150868839..150872466-chr7:150882758..150884932,3	K562	blood:
10	chr7:150820727..150822566-chr7:150869328..150870314,21	MCF-7	breast:
11	chr7:150819273..150820409-chr7:150869428..150870253,7	MCF-7	breast:
12	chr7:150572964..150574021-chr7:150869365..150870354,3	MCF-7	breast:
13	chr7:150820657..150823052-chr7:150869308..150870350,29	K562	blood:
14	chr7:150860030..150860932-chr7:150869274..150870067,3	K562	blood:
15	chr7:150807868..150808384-chr7:150869377..150870234,2	K562	blood:
16	chr7:150595645..150596235-chr7:150869234..150870141,2	MCF-7	breast:
17	chr7:150868213..150870135-chr7:150902617..150904463,2	MCF-7	breast:
18	chr7:150837331..150838153-chr7:150869329..150870043,2	MCF-7	breast:
19	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
20	chr7:150859365..150861826-chr7:150869751..150871434,2	MCF-7	breast:
21	chr7:150820513..150821925-chr7:150868429..150870728,74	MCF-7	breast:
22	chr7:150819690..150821218-chr7:150869813..150872209,2	K562	blood:
23	chr7:150521503..150522014-chr7:150869321..150870223,2	K562	blood:
24	chr7:150822692..150823787-chr7:150869509..150870193,3	MCF-7	breast:
25	chr7:150819307..150820060-chr7:150869417..150870164,3	MCF-7	breast:
26	chr7:150856964..150857632-chr7:150869406..150870241,2	K562	blood:
27	chr7:150573002..150574576-chr7:150869374..150870431,9	K562	blood:
28	chr7:150659654..150660671-chr7:150869377..150870320,4	K562	blood:
29	chr7:150869379..150870234-chr7:150941055..150942048,8	MCF-7	breast:
30	chr7:150865510..150867888-chr7:150868111..150870105,3	MCF-7	breast:
31	chr7:150821997..150823437-chr7:150869432..150870307,6	MCF-7	breast:
32	chr7:150869179..150870329-chr7:151000054..151001183,7	K562	blood:
33	chr7:150814963..150815531-chr7:150869365..150870179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000002726	Chromatin interaction
ENSG00000146926	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10274484	0.85[EUR][1000 genomes]
rs10275136	0.81[EUR][1000 genomes]
rs10275219	0.81[EUR][1000 genomes]
rs28377077	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58304055	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59806285	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743170	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62489631	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62489634	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62489635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62489646	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62489649	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73478622	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9987066	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150865400-150870400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr7:150865600-150877800	Weak transcription	Right Atrium	heart
3	chr7:150868400-150870200	Enhancers	Fetal Heart	heart
4	chr7:150868600-150877800	Weak transcription	Left Ventricle	heart
5	chr7:150869400-150870400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr7:150869600-150870000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr7:150869600-150870200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150869600-150870200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:150869600-150870200	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr7:150869800-150870000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:150869800-150870000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
12	chr7:150869800-150870000	Bivalent Enhancer	Fetal Brain Female	brain
13	chr7:150869800-150870000	Enhancers	Spleen	Spleen
14	chr7:150869800-150870200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr7:150869800-150870200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr7:150869800-150870200	Enhancers	Pancreas	Pancrea
17	chr7:150869800-150870400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:150869800-150872000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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