Variant report

Variant	rs7714523
Chromosome Location	chr5:95092034-95092035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95069105..95072085-chr5:95091331..95096338,6	MCF-7	breast:
2	chr5:94998829..95001427-chr5:95091785..95094602,2	K562	blood:
3	chr5:94998691..95001427-chr5:95091244..95094785,4	K562	blood:
4	chr5:95081126..95084367-chr5:95088877..95092929,3	MCF-7	breast:
5	chr5:95065651..95068670-chr5:95090442..95095492,6	MCF-7	breast:
6	chr5:95087524..95090386-chr5:95090796..95092414,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17085041	0.82[AFR][1000 genomes]
rs6556878	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876866	1.00[AMR][1000 genomes]
rs7706030	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95068200-95095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:95068400-95096200	Weak transcription	Aorta	Aorta
3	chr5:95071200-95094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:95071400-95094200	Weak transcription	A549	lung
5	chr5:95071800-95096200	Weak transcription	Colonic Mucosa	Colon
6	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:95074400-95097200	Weak transcription	Spleen	Spleen
8	chr5:95074800-95094800	Weak transcription	Small Intestine	intestine
9	chr5:95075200-95111800	Weak transcription	Psoas Muscle	Psoas
10	chr5:95075800-95098600	Weak transcription	Fetal Brain Female	brain
11	chr5:95079400-95094600	Weak transcription	Lung	lung
12	chr5:95080000-95099000	Strong transcription	K562	blood
13	chr5:95082400-95095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:95082600-95092800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:95083000-95094200	Weak transcription	Right Ventricle	heart
16	chr5:95083200-95094000	Weak transcription	Right Atrium	heart
17	chr5:95083200-95094400	Strong transcription	HSMM	muscle
18	chr5:95083200-95094800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:95083200-95094800	Weak transcription	Fetal Thymus	thymus
20	chr5:95083200-95122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:95083400-95094000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr5:95084400-95094200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:95084600-95092200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:95084600-95096400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:95084800-95094400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:95084800-95094400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:95085000-95094000	Weak transcription	Fetal Heart	heart
28	chr5:95085000-95095400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:95085000-95096200	Weak transcription	Brain Substantia Nigra	brain
30	chr5:95086000-95092400	Strong transcription	Left Ventricle	heart
31	chr5:95086200-95092200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:95086600-95093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:95086600-95094000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:95086600-95094200	Weak transcription	Gastric	stomach
35	chr5:95086800-95110800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:95087400-95094200	Strong transcription	NHDF-Ad	bronchial
37	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:95088000-95092800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:95088400-95097800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:95088400-95105400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:95088600-95094000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:95088600-95094400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:95088600-95096000	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:95088600-95104800	Weak transcription	Fetal Brain Male	brain
45	chr5:95088800-95095400	Weak transcription	Thymus	Thymus
46	chr5:95089200-95094000	Strong transcription	NH-A	brain
47	chr5:95089400-95094800	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:95089800-95093000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:95089800-95093400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:95090000-95095400	Weak transcription	Colon Smooth Muscle	Colon

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