Variant report

Variant	rs2670886
Chromosome Location	chr8:131256678-131256679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131256131..131258801-chr8:131266345..131268864,3	MCF-7	breast:
2	chr8:131251770..131253963-chr8:131254539..131258197,4	K562	blood:
3	chr8:131248177..131251227-chr8:131256554..131258838,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10098244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs10099820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10103052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10104573	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10109827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13251129	1.00[YRI][hapmap]
rs13267150	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276034	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893265	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs16904203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904256	1.00[JPT][hapmap]
rs2395992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670876	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2670881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2670882	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2670887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791346	1.00[JPT][hapmap]
rs2791354	1.00[JPT][hapmap]
rs28413707	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28736405	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28857237	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994296	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2994298	1.00[JPT][hapmap]
rs3924350	1.00[JPT][hapmap]
rs4733570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6415509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs66513387	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6991855	0.82[YRI][hapmap]
rs72722357	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7813167	0.81[TSI][hapmap]
rs7825499	1.00[ASW][hapmap];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[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7828689	0.82[YRI][hapmap]
rs7828842	0.82[YRI][hapmap]
rs7832716	0.82[YRI][hapmap]
rs7836266	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7838372	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9694314	1.00[JPT][hapmap]

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
rs2670886	EPB41L2	trans	lymphoblastoid	seeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
5	chr8:131232200-131257000	Weak transcription	Lung	lung
6	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
7	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
8	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
12	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:131246400-131257000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:131247000-131257000	Weak transcription	Liver	Liver
16	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
17	chr8:131248400-131257000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:131248400-131257000	Weak transcription	Dnd41	blood
19	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:131250600-131256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:131250600-131256800	Weak transcription	NHEK	skin
24	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:131250800-131260200	Weak transcription	HMEC	breast
26	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:131250800-131270600	Weak transcription	NH-A	brain
28	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:131251200-131258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:131251600-131257000	Enhancers	Primary T cells from cord blood	blood
31	chr8:131251600-131257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:131251600-131257000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:131251600-131257000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:131251600-131257400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:131251600-131257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:131252000-131257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
41	chr8:131252400-131259800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:131252400-131260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:131252400-131260600	Weak transcription	K562	blood
44	chr8:131252600-131256800	Weak transcription	Osteobl	bone
45	chr8:131252800-131256800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:131253400-131257000	Weak transcription	Right Atrium	heart
47	chr8:131253400-131257200	Weak transcription	A549	lung
48	chr8:131253400-131257800	Weak transcription	HepG2	liver
49	chr8:131253600-131257000	Weak transcription	Gastric	stomach
50	chr8:131254000-131262200	Enhancers	Primary T cells fromperipheralblood	blood

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