Variant report

Variant	rs7703077
Chromosome Location	chr5:68410842-68410843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68410842-68410996	Hela-S3	cervix:	n/a	n/a
2	GATA1	chr5:68410771-68411460	PBDE	blood:	n/a	chr5:68411238-68411245 chr5:68411238-68411245 chr5:68411238-68411245

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68397308..68403256-chr5:68407006..68412772,7	K562	blood:
2	chr5:68400479..68402854-chr5:68409637..68411171,2	MCF-7	breast:

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10434546	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10434547	0.86[EUR][1000 genomes]
rs10940200	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35222703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35501479	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35884229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56943665	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871891	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880864	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887331	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
4	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
6	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:68395400-68413200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:68398800-68413400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
15	chr5:68399000-68421400	Strong transcription	Osteobl	bone
16	chr5:68399000-68422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
19	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
20	chr5:68400000-68413800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:68401600-68411600	Weak transcription	Colonic Mucosa	Colon
23	chr5:68401800-68414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:68402600-68429600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:68402800-68427400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:68403000-68413600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:68403000-68425600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:68403200-68411800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:68403200-68414800	Weak transcription	Spleen	Spleen
30	chr5:68403600-68426400	Weak transcription	Small Intestine	intestine
31	chr5:68405800-68411800	Weak transcription	NHLF	lung
32	chr5:68405800-68417600	Weak transcription	Gastric	stomach
33	chr5:68405800-68421800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:68406000-68417400	Weak transcription	Brain Substantia Nigra	brain
35	chr5:68406000-68417400	Weak transcription	Pancreas	Pancrea
36	chr5:68406000-68417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:68406000-68418800	Weak transcription	Fetal Brain Male	brain
38	chr5:68406000-68419200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:68406000-68427400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:68406000-68430000	Strong transcription	Liver	Liver
41	chr5:68406200-68411400	Weak transcription	Psoas Muscle	Psoas
42	chr5:68406200-68411600	Weak transcription	Thymus	Thymus
43	chr5:68406200-68411800	Weak transcription	Brain Angular Gyrus	brain
44	chr5:68406200-68411800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:68406200-68411800	Weak transcription	HSMMtube	muscle
46	chr5:68406200-68414400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:68406200-68414600	Weak transcription	Lung	lung
48	chr5:68406200-68416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:68406200-68417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:68406200-68417400	Weak transcription	Fetal Kidney	kidney

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