Variant report

Variant	rs560544
Chromosome Location	chr8:8637429-8637430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:
2	chr8:8636970..8637812-chr8:8846579..8847342,2	MCF-7	breast:
3	chr8:8634836..8637648-chr8:8864652..8866241,2	K562	blood:
4	chr8:8635419..8638505-chr8:8640387..8644598,4	K562	blood:
5	chr8:8637196..8637781-chr8:8800088..8800758,2	MCF-7	breast:
6	chr8:8636919..8637702-chr8:8799876..8800811,2	MCF-7	breast:
7	chr8:8636902..8637804-chr8:8750649..8751239,2	MCF-7	breast:
8	chr8:8637005..8638649-chr8:8642438..8644598,2	K562	blood:
9	chr8:8637281..8637804-chr8:8820490..8821301,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11249891	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544992	0.80[AMR][1000 genomes]
rs12547493	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12677543	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677550	0.91[ASN][1000 genomes]
rs12682352	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1705179	0.91[ASN][1000 genomes]
rs2048419	0.85[AMR][1000 genomes]
rs2271342	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2428	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476845	0.91[ASN][1000 genomes]
rs4841040	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4841042	0.82[AMR][1000 genomes]
rs484329	0.91[ASN][1000 genomes]
rs486781	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488566	0.98[ASN][1000 genomes]
rs492332	0.92[ASN][1000 genomes]
rs506386	0.91[ASN][1000 genomes]
rs506960	0.94[ASN][1000 genomes]
rs534103	0.98[ASN][1000 genomes]
rs535094	0.98[ASN][1000 genomes]
rs565203	0.98[ASN][1000 genomes]
rs575169	0.92[ASN][1000 genomes]
rs583500	0.92[ASN][1000 genomes]
rs609958	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs612246	0.92[ASN][1000 genomes]
rs614458	0.91[ASN][1000 genomes]
rs614487	0.91[ASN][1000 genomes]
rs617813	0.98[ASN][1000 genomes]
rs656070	0.89[ASN][1000 genomes]
rs657811	0.88[ASN][1000 genomes]
rs686189	0.91[ASN][1000 genomes]
rs693109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6994038	0.84[AMR][1000 genomes]
rs7832968	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs560544	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs560544	SGK223	cis	Thyroid	GTEx
rs560544	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs560544	RP11-62H7.2	cis	Thyroid	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8621400-8646200	Weak transcription	Right Atrium	heart
2	chr8:8630600-8642200	Weak transcription	Fetal Brain Female	brain
3	chr8:8630800-8639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:8630800-8641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8630800-8646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:8630800-8647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:8631000-8639600	Weak transcription	Gastric	stomach
8	chr8:8631000-8640200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:8631000-8641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:8631000-8642000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:8631000-8646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:8631000-8647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:8631000-8648400	Weak transcription	Fetal Stomach	stomach
14	chr8:8631200-8639400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:8631200-8641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:8631200-8641200	Weak transcription	Aorta	Aorta
17	chr8:8631200-8652400	Weak transcription	Ovary	ovary
18	chr8:8631400-8638200	Weak transcription	Lung	lung
19	chr8:8631400-8639400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:8631600-8640200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:8631800-8638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8633000-8639400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:8633200-8640000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:8633200-8640600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:8633200-8641200	Weak transcription	HSMMtube	muscle
26	chr8:8633800-8641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8634000-8639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:8635000-8638600	Enhancers	Fetal Thymus	thymus
29	chr8:8635200-8638800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:8635800-8639800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:8635800-8640000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:8636200-8640200	Weak transcription	Dnd41	blood
33	chr8:8636800-8638600	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:8636800-8638600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:8636800-8638600	Enhancers	Spleen	Spleen
36	chr8:8637000-8638000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:8637000-8638200	Enhancers	A549	lung
38	chr8:8637000-8638600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:8637000-8638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:8637000-8640400	Weak transcription	Fetal Kidney	kidney
41	chr8:8637200-8637600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:8637200-8637600	Enhancers	Pancreas	Pancrea
43	chr8:8637200-8637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:8637200-8637800	Enhancers	Duodenum Mucosa	Duodenum
45	chr8:8637200-8637800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:8637200-8637800	Enhancers	Fetal Brain Male	brain
47	chr8:8637200-8638000	Enhancers	Fetal Lung	lung
48	chr8:8637200-8638000	Enhancers	Fetal Muscle Leg	muscle
49	chr8:8637200-8638200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:8637200-8638200	Enhancers	Fetal Intestine Large	intestine

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