Variant report

Variant	rs56345571
Chromosome Location	chr7:69901166-69901167
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17141604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141610	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141633	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141647	1.00[EUR][1000 genomes]
rs17141666	1.00[EUR][1000 genomes]
rs17141669	1.00[EUR][1000 genomes]
rs17455954	1.00[EUR][1000 genomes]
rs17489055	1.00[EUR][1000 genomes]
rs17489220	1.00[EUR][1000 genomes]
rs17489241	1.00[EUR][1000 genomes]
rs17566691	1.00[EUR][1000 genomes]
rs55836849	1.00[EUR][1000 genomes]
rs56314421	1.00[EUR][1000 genomes]
rs56404854	1.00[EUR][1000 genomes]
rs6978484	0.86[EUR][1000 genomes]
rs73448871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69871800-69908000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:69875600-69903600	Weak transcription	Spleen	Spleen
3	chr7:69889800-69908800	Weak transcription	Left Ventricle	heart
4	chr7:69894600-69903400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:69896000-69902600	Enhancers	Fetal Brain Male	brain
6	chr7:69896800-69914200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:69897400-69901400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:69898200-69918400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:69898400-69901200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:69898400-69901400	Weak transcription	Fetal Kidney	kidney
11	chr7:69899000-69901200	Weak transcription	Fetal Brain Female	brain
12	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:69899400-69901600	Enhancers	Primary T cells from cord blood	blood
14	chr7:69899800-69909800	Weak transcription	Pancreas	Pancrea
15	chr7:69899800-69918000	Weak transcription	Fetal Stomach	stomach
16	chr7:69900000-69901200	Enhancers	Dnd41	blood
17	chr7:69900400-69901800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:69900400-69901800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:69900400-69902600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:69900600-69903400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:69900600-69922800	Weak transcription	Ovary	ovary
22	chr7:69901000-69901800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:69901000-69905000	Weak transcription	GM12878-XiMat	blood
24	chr7:69901000-69918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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