Variant report

Variant	rs12675146
Chromosome Location	chr8:98949624-98949625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98942876..98944641-chr8:98946767..98949893,3	MCF-7	breast:
2	chr8:98941087..98943572-chr8:98949558..98951176,2	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090458	0.80[EUR][1000 genomes]
rs11994638	0.80[EUR][1000 genomes]
rs12674810	0.80[EUR][1000 genomes]
rs12675608	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896467	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16896468	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16896471	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16896476	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16896503	0.80[EUR][1000 genomes]
rs16896514	0.80[EUR][1000 genomes]
rs16896518	0.80[EUR][1000 genomes]
rs16896521	0.80[EUR][1000 genomes]
rs16896531	0.80[EUR][1000 genomes]
rs1869607	0.84[EUR][1000 genomes]
rs1961270	0.80[EUR][1000 genomes]
rs2290473	0.80[EUR][1000 genomes]
rs2513844	0.87[EUR][1000 genomes]
rs34354078	0.80[EUR][1000 genomes]
rs35407519	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734381	0.84[EUR][1000 genomes]
rs4735514	0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735516	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735519	0.83[EUR][1000 genomes]
rs60346298	0.80[EUR][1000 genomes]
rs60580631	0.80[EUR][1000 genomes]
rs6980810	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7018411	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72677062	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72677068	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72677085	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72677098	0.84[EUR][1000 genomes]
rs764568	0.90[EUR][1000 genomes]
rs930817	0.88[JPT][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription 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	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12675146	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
2	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
4	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
5	chr8:98942400-98956200	Weak transcription	NHLF	lung
6	chr8:98944000-98954000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:98944800-98951600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:98944800-98956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:98945000-98953800	Weak transcription	Psoas Muscle	Psoas
11	chr8:98945000-98955400	Weak transcription	Left Ventricle	heart
12	chr8:98945200-98953800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:98945600-98950200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:98945600-98955800	Weak transcription	Gastric	stomach
15	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
16	chr8:98946200-98950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:98946200-98956000	Weak transcription	NH-A	brain
18	chr8:98946400-98950000	Weak transcription	Brain Substantia Nigra	brain
19	chr8:98946400-98950400	Weak transcription	Fetal Kidney	kidney
20	chr8:98946600-98950000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:98946600-98950000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:98946600-98950200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:98946600-98952200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:98946600-98955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:98946800-98950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:98946800-98950200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:98946800-98950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:98947000-98950000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:98947000-98950000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:98947000-98950200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:98947200-98950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:98947200-98956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:98947400-98950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:98947800-98950200	Enhancers	Fetal Muscle Leg	muscle
35	chr8:98948000-98950200	Enhancers	GM12878-XiMat	blood
36	chr8:98948400-98950000	Weak transcription	Liver	Liver
37	chr8:98948400-98950200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:98948400-98950200	Weak transcription	Pancreas	Pancrea
39	chr8:98948400-98950800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:98948400-98951400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:98948400-98953800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:98948600-98951400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:98948800-98950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:98948800-98950600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:98949000-98950600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:98949200-98949800	Enhancers	Osteobl	bone
47	chr8:98949200-98950400	Enhancers	Fetal Muscle Trunk	muscle
48	chr8:98949200-98951000	Enhancers	Fetal Lung	lung
49	chr8:98949200-98951400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:98949400-98950400	Weak transcription	Ovary	ovary

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