Variant report

Variant	rs7832968
Chromosome Location	chr8:8652889-8652890
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	chr8:8648185..8650191-chr8:8651639..8653893,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1039915	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1039916	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11249891	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11249893	0.81[EUR][1000 genomes]
rs11775523	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11777085	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11783966	0.92[CHB][hapmap]
rs11784052	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12544992	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12545499	0.88[EUR][1000 genomes]
rs12547493	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12677543	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12677550	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12682352	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259216	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13265731	0.92[CHB][hapmap]
rs1533058	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1533059	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2048419	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2271342	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2409091	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2409092	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2428	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs332040	0.88[CEU][hapmap]
rs35039922	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35431455	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4382480	0.84[CEU][hapmap]
rs4481596	0.81[EUR][1000 genomes]
rs4840362	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841040	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4841042	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4841044	0.92[CHB][hapmap]
rs4841045	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841051	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs486781	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs560544	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57312668	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59046059	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60315134	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs609958	0.81[AMR][1000 genomes]
rs693109	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6993494	0.92[CHB][hapmap]
rs6994038	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7006589	0.92[CHB][hapmap]
rs7823757	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882462	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs907183	0.92[CEU][hapmap]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7832968	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs7832968	RP11-62H7.2	cis	Thyroid	GTEx
rs7832968	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs7832968	FAM86B3P	cis	Esophagus Mucosa	GTEx
rs7832968	SGK223	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8653400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:8640200-8655600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8640600-8653200	Weak transcription	Gastric	stomach
5	chr8:8640600-8654800	Weak transcription	Colonic Mucosa	Colon
6	chr8:8641600-8653000	Weak transcription	Liver	Liver
7	chr8:8642800-8660000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:8644200-8655600	Weak transcription	Fetal Brain Male	brain
9	chr8:8645000-8655000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:8646600-8654600	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:8646600-8654800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:8646600-8655000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:8646600-8655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:8646600-8658000	Weak transcription	Pancreas	Pancrea
15	chr8:8647000-8654800	Weak transcription	Right Atrium	heart
16	chr8:8647200-8653200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:8647200-8653600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:8647200-8654800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:8647400-8653200	Weak transcription	Brain Germinal Matrix	brain
20	chr8:8647400-8654800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:8647600-8654400	Weak transcription	GM12878-XiMat	blood
22	chr8:8648200-8653200	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:8648600-8654400	Weak transcription	Primary B cells from cord blood	blood
24	chr8:8648600-8658000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:8648800-8654000	Strong transcription	HepG2	liver
26	chr8:8649000-8654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:8649200-8654800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:8649200-8654800	Weak transcription	Small Intestine	intestine
29	chr8:8649200-8655000	Weak transcription	HSMM	muscle
30	chr8:8649200-8657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:8649200-8657200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:8649200-8657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:8649200-8666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:8649400-8653000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:8649400-8653000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:8649400-8653000	Weak transcription	Brain Anterior Caudate	brain
37	chr8:8649400-8653000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:8649400-8653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:8649400-8653200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:8649400-8653200	Weak transcription	Right Ventricle	heart
41	chr8:8649400-8654400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:8649400-8654400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:8649400-8654800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:8649400-8657800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:8649400-8661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:8649400-8663600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:8649400-8663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr8:8649600-8653200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:8649600-8654800	Weak transcription	Spleen	Spleen
50	chr8:8649600-8657800	Weak transcription	Stomach Mucosa	stomach

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