Variant report

Variant	rs7704118
Chromosome Location	chr5:36683684-36683685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36683268..36685538-chr5:36688361..36690027,2	MCF-7	breast:
2	chr5:36492000..36494291-chr5:36683207..36685275,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10941313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436147	1.00[JPT][hapmap]
rs7726798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283745	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.99[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880571	chr5:36675699-36710205	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7704118	SCD5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36684200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:36658600-36684000	Weak transcription	Esophagus	oesophagus
5	chr5:36659000-36689400	Weak transcription	Osteobl	bone
6	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
7	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
8	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:36667400-36688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:36667600-36689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:36668400-36685000	Weak transcription	Fetal Intestine Large	intestine
13	chr5:36668400-36689200	Weak transcription	NHEK	skin
14	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:36670200-36684000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
17	chr5:36673600-36689400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:36673600-36689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:36674200-36690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:36674400-36689400	Weak transcription	HMEC	breast
21	chr5:36674400-36690000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:36675000-36684400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:36675200-36686200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:36676800-36689200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:36677000-36685800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:36677400-36690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:36678000-36684000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:36678000-36689400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:36678000-36690200	Weak transcription	Lung	lung
30	chr5:36678400-36684000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:36678400-36686400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:36678800-36684200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:36679000-36690200	Weak transcription	Gastric	stomach
34	chr5:36680000-36684000	Weak transcription	NHLF	lung
35	chr5:36680000-36690000	Weak transcription	Right Ventricle	heart
36	chr5:36680000-36690200	Weak transcription	Hela-S3	cervix
37	chr5:36680200-36684200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:36680800-36684000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:36680800-36684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:36680800-36685800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:36680800-36688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:36681000-36683800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:36681000-36686200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:36681800-36684800	Enhancers	Fetal Heart	heart
45	chr5:36682000-36684400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:36682200-36690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:36682400-36684000	Weak transcription	Adipose Nuclei	Adipose
48	chr5:36682400-36684000	Enhancers	Fetal Lung	lung
49	chr5:36682600-36684000	Weak transcription	Left Ventricle	heart
50	chr5:36682800-36684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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