Variant report

Variant	rs2945891
Chromosome Location	chr8:8155475-8155476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8151537..8155554-chr8:8160869..8164322,5	MCF-7	breast:
2	chr8:8153909..8155842-chr8:8254348..8256276,2	MCF-7	breast:
3	chr8:8152575..8156744-chr8:8165539..8169727,4	MCF-7	breast:
4	chr8:8145815..8148362-chr8:8152420..8155525,4	MCF-7	breast:
5	chr8:8154932..8157234-chrX:48930489..48933092,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243279	Chromatin interaction
ENSG00000196998	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11785239	0.86[CHB][hapmap]
rs13280304	1.00[CHB][hapmap]
rs1401390	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1543238	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs1850511	0.89[ASN][1000 genomes]
rs2030279	0.88[CHB][hapmap]
rs2176631	1.00[CHB][hapmap]
rs2921005	0.86[CHB][hapmap]
rs2921007	0.86[CHB][hapmap]
rs2921010	1.00[CHB][hapmap]
rs2945236	0.89[ASN][1000 genomes]
rs2945238	0.89[ASN][1000 genomes]
rs2945251	0.81[MEX][hapmap]
rs2945266	0.86[CHB][hapmap]
rs2945854	1.00[CHB][hapmap]
rs2945856	1.00[CHB][hapmap]
rs2945861	0.88[CHB][hapmap]
rs2945886	0.89[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs2945916	0.86[CHB][hapmap]
rs2948283	0.86[CHB][hapmap]
rs2948285	0.81[EUR][1000 genomes]
rs2948286	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2955552	0.86[CHB][hapmap]
rs2976935	0.86[CHB][hapmap]
rs2976955	0.86[CHB][hapmap]
rs2976966	1.00[CHB][hapmap]
rs2976971	0.86[CHB][hapmap]
rs2979131	1.00[CHB][hapmap]
rs2979132	1.00[CHB][hapmap]
rs2979133	1.00[CHB][hapmap]
rs2980423	0.87[EUR][1000 genomes]
rs2980426	0.81[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2980437	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs2980508	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2980512	0.84[EUR][1000 genomes]
rs35571782	0.84[EUR][1000 genomes]
rs4840932	0.86[CHB][hapmap]
rs712259	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	esv2752266	chr8:7291132-8171471	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
5	nsv869840	chr8:7786708-8167207	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1032566	chr8:8055248-8156228	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv890329	chr8:8065046-8163243	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv890330	chr8:8065046-8168413	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv3584878	chr8:8093182-8171471	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	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
12	nsv610151	chr8:8098079-8168413	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1030801	chr8:8107754-8165004	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1025515	chr8:8107958-8165004	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1033952	chr8:8108863-8169587	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv521240	chr8:8109255-8163243	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv890332	chr8:8117808-8168413	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	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
29	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
30	nsv1021826	chr8:8130644-8165574	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv539450	chr8:8130644-8165574	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv1031521	chr8:8131347-8168474	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	nsv1026495	chr8:8131347-8172960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv8284	chr8:8154363-8156688	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2945891	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs2945891	FLJ10661	cis	parietal	SCAN
rs2945891	FLJ10661	cis	cerebellum	SCAN
rs2945891	FAM86B3P	cis	Esophagus Mucosa	GTEx
rs2945891	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs2945891	C8orf13	cis	multi-tissue	Pritchard
rs2945891	MCPH1	cis	parietal	SCAN
rs2945891	CLDN23	cis	multi-tissue	Pritchard
rs2945891	SGK223	cis	Thyroid	GTEx
rs2945891	DEFB134	cis	cerebellum	SCAN
rs2945891	FLJ10661	Cis_1M	lymphoblastoid	RTeQTL
rs2945891	CTA-398F10.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2945891	MFHAS1	cis	cerebellum	SCAN
rs2945891	CTSB	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8152200-8156200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:8154200-8156000	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:8154400-8155600	Enhancers	NH-A	brain
4	chr8:8154800-8156200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:8154800-8162800	Weak transcription	Osteobl	bone
6	chr8:8154800-8167400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:8155000-8156000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:8155000-8156000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:8155000-8157400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:8155000-8163200	Weak transcription	Fetal Kidney	kidney
11	chr8:8155200-8155600	Enhancers	HepG2	liver
12	chr8:8155200-8156000	Weak transcription	Placenta	Placenta
13	chr8:8155200-8156200	Weak transcription	Fetal Lung	lung
14	chr8:8155400-8155600	Enhancers	Hela-S3	cervix
15	chr8:8155400-8156200	Weak transcription	A549	lung
16	chr8:8155400-8156600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:8155400-8156600	Weak transcription	Stomach Mucosa	stomach
18	chr8:8155400-8161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:8155400-8161200	Weak transcription	Fetal Intestine Large	intestine

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