Variant report

Variant	rs2513844
Chromosome Location	chr8:98951063-98951064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98942233..98946263-chr8:98950230..98954228,4	MCF-7	breast:
2	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:
3	chr8:98941087..98943572-chr8:98949558..98951176,2	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11994638	0.81[EUR][1000 genomes]
rs12674810	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12675146	0.87[EUR][1000 genomes]
rs12675608	0.89[EUR][1000 genomes]
rs12680911	1.00[CEU][hapmap]
rs1378121	1.00[CEU][hapmap]
rs1470957	0.82[JPT][hapmap]
rs16892217	1.00[CEU][hapmap]
rs16896429	0.85[EUR][1000 genomes]
rs16896467	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16896468	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16896471	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16896514	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16896531	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16896564	1.00[CEU][hapmap]
rs16896600	1.00[CEU][hapmap]
rs1869607	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1961270	0.81[EUR][1000 genomes]
rs2061053	1.00[CEU][hapmap]
rs2290473	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2444878	0.82[JPT][hapmap]
rs2512032	0.82[JPT][hapmap]
rs34354078	0.81[EUR][1000 genomes]
rs35407519	0.95[EUR][1000 genomes]
rs4734381	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4735514	0.82[EUR][1000 genomes]
rs4735516	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4735519	0.83[EUR][1000 genomes]
rs60346298	0.81[EUR][1000 genomes]
rs60580631	0.81[EUR][1000 genomes]
rs6980810	0.84[EUR][1000 genomes]
rs7018411	0.87[EUR][1000 genomes]
rs72677062	0.95[EUR][1000 genomes]
rs72677068	0.95[EUR][1000 genomes]
rs72677085	0.89[EUR][1000 genomes]
rs72677098	0.84[EUR][1000 genomes]
rs7830701	1.00[CEU][hapmap]
rs7843262	1.00[CEU][hapmap]
rs897189	0.88[JPT][hapmap]

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
rs2513844	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
3	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
4	chr8:98942400-98956200	Weak transcription	NHLF	lung
5	chr8:98944000-98954000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:98944800-98951600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:98944800-98956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:98945000-98953800	Weak transcription	Psoas Muscle	Psoas
10	chr8:98945000-98955400	Weak transcription	Left Ventricle	heart
11	chr8:98945200-98953800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:98945600-98955800	Weak transcription	Gastric	stomach
13	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
14	chr8:98946200-98956000	Weak transcription	NH-A	brain
15	chr8:98946600-98952200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:98946600-98955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:98947200-98956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:98948400-98951400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:98948400-98953800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:98948600-98951400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:98949200-98951400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:98949600-98955000	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:98949600-98955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:98949800-98955800	Weak transcription	Osteobl	bone
25	chr8:98950400-98953800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:98950400-98953800	Weak transcription	Fetal Stomach	stomach
27	chr8:98950400-98955000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:98950400-98955400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:98950400-98955800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:98950400-98956200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:98950400-98956400	Weak transcription	Right Ventricle	heart
32	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
33	chr8:98950600-98951200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:98950600-98954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:98950600-98955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:98950600-98955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:98950600-98956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:98950600-98956200	Weak transcription	Fetal Heart	heart
39	chr8:98950800-98951600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:98950800-98951600	Weak transcription	Ovary	ovary
41	chr8:98950800-98952000	Weak transcription	Fetal Kidney	kidney
42	chr8:98950800-98952000	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:98950800-98953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:98950800-98955600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:98950800-98955800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:98950800-98955800	Weak transcription	Right Atrium	heart
47	chr8:98950800-98956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:98950800-98956000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:98950800-98956000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:98950800-98956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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