Variant report

Variant	rs1964719
Chromosome Location	chr8:8709756-8709757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11249896	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1877119	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3925830	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3958877	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841054	0.83[ASN][1000 genomes]
rs7820738	0.86[ASN][1000 genomes]
rs907180	0.84[ASN][1000 genomes]
rs907181	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1964719	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
3	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:8702400-8713600	Weak transcription	Gastric	stomach
6	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
7	chr8:8703600-8713600	Weak transcription	Brain Substantia Nigra	brain
8	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:8705800-8713600	Weak transcription	Aorta	Aorta
10	chr8:8705800-8716800	Weak transcription	Dnd41	blood
11	chr8:8706000-8710600	Enhancers	Stomach Mucosa	stomach
12	chr8:8706200-8709800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:8706200-8713600	Weak transcription	Fetal Brain Female	brain
14	chr8:8706200-8714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:8706200-8717400	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:8706200-8717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:8706400-8709800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:8706400-8710200	Weak transcription	Brain Germinal Matrix	brain
19	chr8:8706400-8710600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:8706400-8710800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:8706400-8711000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:8706400-8712000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:8706400-8717600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:8706600-8715400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:8707000-8710600	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:8707000-8717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:8707200-8726600	Weak transcription	Pancreas	Pancrea
28	chr8:8707400-8709800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:8707400-8711400	Enhancers	HepG2	liver
30	chr8:8707400-8718200	Weak transcription	K562	blood
31	chr8:8707400-8721600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:8707600-8713200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:8707800-8709800	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:8707800-8709800	Enhancers	Fetal Thymus	thymus
35	chr8:8708000-8709800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:8708000-8710600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:8708200-8709800	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:8708400-8709800	Enhancers	Small Intestine	intestine
39	chr8:8708400-8710400	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:8708600-8709800	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:8708600-8710800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:8708600-8717600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:8708600-8726000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:8708800-8709800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:8708800-8709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:8709000-8709800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:8709000-8710400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:8709000-8710800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:8709000-8715400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:8709000-8717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links