Variant report

Variant	rs1047950
Chromosome Location	chr8:11185096-11185097
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	chr8:11170423..11173089-chr8:11183633..11185692,2	K562	blood:
2	chr8:11140705..11143665-chr8:11184811..11187065,2	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10096194	0.80[CEU][hapmap]
rs10481454	1.00[CHB][hapmap]
rs10503420	1.00[JPT][hapmap]
rs10503421	0.83[CEU][hapmap]
rs11250130	0.93[CEU][hapmap]
rs11250131	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11774569	1.00[CHB][hapmap]
rs11777746	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781637	0.93[CEU][hapmap]
rs11782430	0.84[AMR][1000 genomes]
rs11784572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12676062	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12676613	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12681987	0.93[CEU][hapmap];0.89[YRI][hapmap]
rs13260727	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1435277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1435282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1560971	1.00[CHB][hapmap]
rs17153118	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17741537	0.82[CEU][hapmap]
rs2060456	0.82[CEU][hapmap]
rs2060459	0.82[CEU][hapmap]
rs2246606	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2249804	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2250028	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2251473	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2293860	0.82[CEU][hapmap]
rs2409756	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572371	0.89[CEU][hapmap]
rs2572382	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2572385	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2572386	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572387	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2572397	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2572398	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2572404	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2572452	0.85[CEU][hapmap]
rs2736264	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736265	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2736266	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2736268	0.83[AMR][1000 genomes]
rs2736270	0.95[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736273	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736278	0.86[AMR][1000 genomes]
rs2736280	0.82[CEU][hapmap]
rs2736282	0.85[CEU][hapmap]
rs2736283	0.85[CEU][hapmap]
rs2736288	0.86[CEU][hapmap]
rs2736290	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2736292	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2736295	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2736311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34482136	0.80[AMR][1000 genomes]
rs35418978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779891	0.82[CEU][hapmap]
rs4413734	0.82[CEU][hapmap]
rs4841525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5029571	0.82[CEU][hapmap]
rs6601582	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6601585	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7816606	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7828263	0.81[AMR][1000 genomes]
rs7832747	1.00[JPT][hapmap]
rs7839307	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1047950	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs1047950	MTMR9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11167400-11185200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11170600-11185400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
4	chr8:11176000-11185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:11176000-11189000	Weak transcription	Gastric	stomach
7	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
8	chr8:11178200-11186000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:11178800-11186200	Weak transcription	Fetal Heart	heart
12	chr8:11179000-11185400	Weak transcription	Fetal Lung	lung
13	chr8:11179400-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:11179600-11186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11179800-11186400	Weak transcription	Brain Germinal Matrix	brain
16	chr8:11179800-11188000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:11180600-11185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:11180600-11185400	Weak transcription	Brain Angular Gyrus	brain
19	chr8:11180600-11185800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:11180600-11185800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:11180600-11186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:11180600-11187000	Weak transcription	Lung	lung
23	chr8:11180600-11190200	Weak transcription	A549	lung
24	chr8:11180800-11185400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:11181000-11185200	Weak transcription	Placenta	Placenta
26	chr8:11181600-11186600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:11182200-11186600	Weak transcription	Fetal Brain Female	brain
28	chr8:11182400-11188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:11182400-11193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:11182600-11185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:11182600-11186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:11182600-11188800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:11182800-11186600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:11182800-11187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:11183000-11185200	Weak transcription	Fetal Stomach	stomach
36	chr8:11183000-11185600	Weak transcription	Spleen	Spleen
37	chr8:11183000-11186000	Weak transcription	Fetal Thymus	thymus
38	chr8:11183000-11186200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:11183000-11186400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:11183000-11186400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:11183000-11186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11183000-11186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:11183000-11186600	Weak transcription	Fetal Intestine Large	intestine
44	chr8:11183000-11186800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:11183000-11187000	Weak transcription	Thymus	Thymus
46	chr8:11183000-11187400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:11183000-11187400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:11183000-11188400	Weak transcription	Aorta	Aorta
49	chr8:11183000-11188600	Weak transcription	Ovary	ovary
50	chr8:11183000-11189000	Weak transcription	Brain Anterior Caudate	brain

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