Variant report

Variant	rs4481596
Chromosome Location	chr8:8704330-8704331
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	chr8:8702216..8704089-chr8:8704217..8706450,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1039915	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1039916	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11249893	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11775523	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11777085	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11784052	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12545499	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12547493	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12682352	0.81[EUR][1000 genomes]
rs13259070	0.83[EUR][1000 genomes]
rs13259216	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1510934	0.82[EUR][1000 genomes]
rs1533058	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1533059	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2409092	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2409096	0.84[EUR][1000 genomes]
rs332040	0.80[EUR][1000 genomes]
rs35039922	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35431455	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs408459	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs435953	0.81[ASN][1000 genomes]
rs437895	0.81[ASN][1000 genomes]
rs4382480	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs440788	0.86[ASN][1000 genomes]
rs4840362	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841045	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841051	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841055	0.86[ASN][1000 genomes]
rs57312668	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59046059	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60315134	0.83[EUR][1000 genomes]
rs6996376	0.83[ASN][1000 genomes]
rs7820146	0.84[EUR][1000 genomes]
rs7823757	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832968	0.81[EUR][1000 genomes]
rs7833171	0.84[EUR][1000 genomes]
rs882462	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs907181	0.81[EUR][1000 genomes]
rs907183	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4481596	SGK223	cis	Thyroid	GTEx
rs4481596	FAM86B3P	cis	Esophagus Mucosa	GTEx
rs4481596	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs4481596	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:8686600-8705600	Weak transcription	Right Atrium	heart
3	chr8:8687600-8706600	Weak transcription	Lung	lung
4	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:8692600-8707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:8699000-8705600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:8699400-8705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
9	chr8:8699800-8705800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:8700000-8705600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:8700000-8707400	Enhancers	Fetal Thymus	thymus
12	chr8:8700200-8705400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:8700200-8705400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:8700200-8706200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:8700200-8707400	Enhancers	Fetal Kidney	kidney
16	chr8:8700200-8708000	Weak transcription	Spleen	Spleen
17	chr8:8700400-8706800	Weak transcription	Esophagus	oesophagus
18	chr8:8700800-8705000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:8700800-8705600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:8701000-8705200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:8701000-8705400	Enhancers	GM12878-XiMat	blood
22	chr8:8701000-8705600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:8701000-8705800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr8:8701000-8706600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:8701000-8707800	Enhancers	Fetal Intestine Large	intestine
26	chr8:8701200-8706000	Enhancers	Colon Smooth Muscle	Colon
27	chr8:8701200-8706400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:8701400-8705600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:8701400-8705800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:8701400-8706200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:8701400-8708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:8701600-8704800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:8701600-8706000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:8701600-8706000	Enhancers	Fetal Heart	heart
35	chr8:8701600-8706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:8701800-8705200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:8701800-8705400	Enhancers	Primary T cells from cord blood	blood
38	chr8:8701800-8706000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:8701800-8706400	Enhancers	Thymus	Thymus
40	chr8:8702000-8704400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:8702000-8704800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:8702200-8704600	Enhancers	Brain Germinal Matrix	brain
43	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:8702400-8705200	Weak transcription	NHEK	skin
46	chr8:8702400-8705400	Weak transcription	Aorta	Aorta
47	chr8:8702400-8705400	Weak transcription	Stomach Mucosa	stomach
48	chr8:8702400-8705600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:8702400-8705600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:8702400-8705600	Weak transcription	Brain Angular Gyrus	brain

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