Variant report

Variant	rs13247522
Chromosome Location	chr7:7763498-7763499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10486187	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17481971	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17482047	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28912681	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34609539	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35821989	0.81[ASN][1000 genomes]
rs4140935	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140936	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634522	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4720752	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725018	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432602	0.84[ASN][1000 genomes]
rs62432609	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432610	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432611	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432616	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:7743600-7772800	Weak transcription	Gastric	stomach
3	chr7:7747800-7763800	Weak transcription	Left Ventricle	heart
4	chr7:7748200-7772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:7749200-7770800	Weak transcription	Small Intestine	intestine
6	chr7:7752600-7790400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:7755400-7772800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:7756800-7765600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:7757000-7770600	Weak transcription	Pancreas	Pancrea
10	chr7:7759000-7785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:7759400-7772000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:7759400-7791200	Weak transcription	Esophagus	oesophagus
13	chr7:7759600-7766000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:7759600-7779000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:7759600-7780000	Weak transcription	Primary T cells from cord blood	blood
16	chr7:7759600-7786800	Weak transcription	Aorta	Aorta
17	chr7:7759800-7768800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:7759800-7776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:7760200-7771000	Weak transcription	HSMMtube	muscle
20	chr7:7760600-7770600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:7760800-7763800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:7760800-7763800	Weak transcription	Psoas Muscle	Psoas
23	chr7:7760800-7778400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:7760800-7785200	Weak transcription	Primary B cells from cord blood	blood
25	chr7:7761000-7777800	Weak transcription	Thymus	Thymus
26	chr7:7761600-7770800	Weak transcription	Primary B cells from peripheral blood	blood

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