Variant report

Variant	rs6996368
Chromosome Location	chr8:11182704-11182705
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	chr8:11177843..11179564-chr8:11181108..11182895,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10096194	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10098322	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10110557	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11250129	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11774673	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11781375	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11782706	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11784458	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784544	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991153	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994376	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13248147	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13250270	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13253016	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13253735	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13263127	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13266233	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435273	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17741537	0.81[EUR][1000 genomes]
rs17797894	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060456	0.81[EUR][1000 genomes]
rs2060457	0.81[EUR][1000 genomes]
rs2060459	0.81[EUR][1000 genomes]
rs2293855	0.84[ASN][1000 genomes]
rs2293856	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2293858	0.81[EUR][1000 genomes]
rs3174048	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34237267	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35631424	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35687566	0.80[AMR][1000 genomes]
rs35747588	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3779891	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4394351	0.81[EUR][1000 genomes]
rs4413734	0.81[EUR][1000 genomes]
rs5029571	0.81[EUR][1000 genomes]
rs58283816	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62488721	0.84[EUR][1000 genomes]
rs6601580	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985146	0.88[ASN][1000 genomes]
rs6988922	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991606	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6995404	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005469	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7008205	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7016671	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815463	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7815802	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815804	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7816601	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7816636	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7817658	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7819395	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7820895	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7828711	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7831346	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833966	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7834139	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7837036	0.89[ASN][1000 genomes]
rs7838897	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7839053	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv971285	chr8:11181086-11184863	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6996368	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs6996368	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11154200-11183800	Strong transcription	Liver	Liver
2	chr8:11154600-11183000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr8:11155000-11184000	Strong transcription	Dnd41	blood
4	chr8:11155600-11183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:11157600-11183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:11161600-11183200	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:11162000-11183400	Strong transcription	Primary T cells from cord blood	blood
8	chr8:11162200-11183200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr8:11162400-11183000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:11162400-11183000	Strong transcription	Adipose Nuclei	Adipose
11	chr8:11162400-11183200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:11162400-11183600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:11162400-11183800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:11162400-11184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:11162400-11184000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:11162400-11184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:11162600-11182800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:11162600-11184000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:11167400-11185200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:11167800-11184600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:11170600-11185400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:11170800-11183800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr8:11171000-11183000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:11171000-11184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11171000-11184200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:11171200-11183200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:11171200-11183400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
29	chr8:11172200-11183600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:11173800-11183200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:11174000-11183800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:11175400-11185000	Weak transcription	Small Intestine	intestine
33	chr8:11175800-11183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:11176000-11184200	Weak transcription	Right Ventricle	heart
35	chr8:11176000-11184400	Weak transcription	K562	blood
36	chr8:11176000-11185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:11176000-11189000	Weak transcription	Gastric	stomach
39	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
40	chr8:11177000-11183000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:11177000-11183000	Strong transcription	Primary B cells from cord blood	blood
42	chr8:11177000-11183000	Strong transcription	Fetal Thymus	thymus
43	chr8:11177000-11183000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr8:11177400-11184400	Weak transcription	NHLF	lung
45	chr8:11177800-11184400	Weak transcription	Fetal Brain Male	brain
46	chr8:11177800-11185000	Weak transcription	NH-A	brain
47	chr8:11178200-11186000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:11178600-11183000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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