Variant report

Variant	rs1530297
Chromosome Location	chr4:77202861-77202862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77202480..77205980-chr4:77226274..77229049,3	MCF-7	breast:
2	chr4:77068994..77070621-chr4:77200458..77203318,2	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000118804	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1036788	0.83[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11097320	0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11934863	0.83[JPT][hapmap]
rs1441916	0.88[ASN][1000 genomes]
rs1530295	0.87[ASW][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs1530296	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1530298	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1969148	0.95[ASN][1000 genomes]
rs1969149	0.96[ASN][1000 genomes]
rs4370157	0.80[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4859440	0.88[ASN][1000 genomes]
rs4859658	0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs964051	0.83[JPT][hapmap]

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	nsv461559	chr4:77192838-77204500	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594695	chr4:77192838-77204500	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1530297	FAM47E	cis	cerebellum	SCAN
rs1530297	CCDC158	cis	parietal	SCAN
rs1530297	FAM47E	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77173800-77215800	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:77186400-77204200	Weak transcription	Aorta	Aorta
3	chr4:77186600-77215000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:77192600-77212200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:77194000-77204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:77194200-77216400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:77199800-77203600	Enhancers	Liver	Liver
8	chr4:77199800-77204200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:77200800-77203000	Enhancers	Stomach Mucosa	stomach
10	chr4:77201400-77203000	Enhancers	Adipose Nuclei	Adipose
11	chr4:77201400-77203000	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:77201400-77203000	Enhancers	HepG2	liver
13	chr4:77201400-77203600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:77201400-77204400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:77201400-77205800	Enhancers	Fetal Intestine Large	intestine
16	chr4:77201600-77203000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:77201600-77204600	Enhancers	Fetal Heart	heart
18	chr4:77202400-77203600	Weak transcription	Placenta	Placenta
19	chr4:77202400-77203600	Weak transcription	Gastric	stomach
20	chr4:77202400-77204200	Weak transcription	Colonic Mucosa	Colon
21	chr4:77202400-77204200	Weak transcription	Right Atrium	heart
22	chr4:77202400-77204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:77202400-77205000	Weak transcription	Pancreas	Pancrea
24	chr4:77202400-77206200	Weak transcription	Psoas Muscle	Psoas
25	chr4:77202400-77217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:77202400-77221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:77202600-77204200	Weak transcription	Fetal Intestine Small	intestine
28	chr4:77202600-77204200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:77202800-77203000	Enhancers	Brain Substantia Nigra	brain

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