Variant report

Variant	rs2670876
Chromosome Location	chr8:131269886-131269887
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	chr8:131263978..131265844-chr8:131269482..131272106,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10099820	1.00[JPT][hapmap]
rs10109827	1.00[JPT][hapmap]
rs11774659	0.85[YRI][hapmap]
rs16893265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16904203	1.00[JPT][hapmap]
rs16904256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2395992	0.80[ASN][1000 genomes]
rs2670881	1.00[JPT][hapmap]
rs2670882	1.00[JPT][hapmap]
rs2670886	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2670887	0.80[ASN][1000 genomes]
rs2791339	1.00[JPT][hapmap]
rs2791346	0.89[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2791354	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2994295	1.00[JPT][hapmap]
rs2994298	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes]
rs3924350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4498576	0.85[JPT][hapmap]
rs4733570	1.00[JPT][hapmap]
rs6415509	1.00[JPT][hapmap]
rs7825499	1.00[JPT][hapmap]
rs7838372	1.00[JPT][hapmap]
rs9694314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2670876	FAM84B	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131250800-131270600	Weak transcription	NH-A	brain
3	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
5	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:131257400-131281600	Weak transcription	Gastric	stomach
7	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
8	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
11	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:131261600-131270400	Weak transcription	Spleen	Spleen
16	chr8:131261600-131270400	Weak transcription	NHEK	skin
17	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:131261800-131276000	Weak transcription	K562	blood
19	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:131262200-131270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:131262400-131270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:131262800-131271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:131263200-131270600	Weak transcription	GM12878-XiMat	blood
27	chr8:131263800-131270800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
29	chr8:131264800-131271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:131265400-131270400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:131265600-131270400	Weak transcription	HSMM	muscle
32	chr8:131265600-131270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:131265600-131270600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:131265600-131271000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:131265600-131271000	Weak transcription	HMEC	breast
36	chr8:131266000-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131266400-131270400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131266400-131270400	Weak transcription	Small Intestine	intestine
39	chr8:131266400-131271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:131266800-131270600	Enhancers	Liver	Liver
41	chr8:131267000-131270600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131267000-131272200	Enhancers	HepG2	liver
43	chr8:131267400-131270400	Weak transcription	HUVEC	blood vessel
44	chr8:131267600-131275800	Weak transcription	Primary T cells from cord blood	blood
45	chr8:131267800-131271000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:131268200-131270800	Weak transcription	Adipose Nuclei	Adipose
47	chr8:131268400-131270200	Weak transcription	NHDF-Ad	bronchial
48	chr8:131268400-131270400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:131268400-131270400	Weak transcription	Brain Angular Gyrus	brain
50	chr8:131268400-131270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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