Variant report

Variant	rs793509
Chromosome Location	chr8:8139302-8139303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10103409	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10108729	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10108735	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10112645	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1107832	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11987754	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17149727	0.86[EUR][1000 genomes]
rs17594423	0.84[EUR][1000 genomes]
rs17594870	0.86[EUR][1000 genomes]
rs17595502	0.87[EUR][1000 genomes]
rs17602960	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17603787	0.89[EUR][1000 genomes]
rs17665878	0.88[EUR][1000 genomes]
rs17666595	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2138851	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2139203	0.84[EUR][1000 genomes]
rs2139204	0.86[EUR][1000 genomes]
rs2140125	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2176630	0.86[EUR][1000 genomes]
rs28645633	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4529466	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56297116	0.85[EUR][1000 genomes]
rs58054574	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59224164	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6601686	0.90[EUR][1000 genomes]
rs66914826	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67734823	0.84[EUR][1000 genomes]
rs68174081	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6985501	0.86[EUR][1000 genomes]
rs6992091	0.85[EUR][1000 genomes]
rs7004604	0.95[EUR][1000 genomes]
rs7014953	0.85[EUR][1000 genomes]
rs712256	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs712257	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs712258	0.83[EUR][1000 genomes]
rs712260	0.87[EUR][1000 genomes]
rs7820459	0.88[EUR][1000 genomes]
rs7826987	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7836459	0.93[EUR][1000 genomes]
rs7845203	0.93[EUR][1000 genomes]
rs793504	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs793505	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs793506	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs793508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793510	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs793728	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs793762	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026126	chr8:7214599-8141431	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv429852	chr8:7235580-8145931	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
3	esv2752265	chr8:7235582-8145931	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
4	nsv429854	chr8:7235582-8145931	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
5	nsv429855	chr8:7235582-8147999	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	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
7	nsv610051	chr8:7242715-8145440	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv870085	chr8:7786708-8153368	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	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
13	nsv1034204	chr8:7935843-8145999	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1018592	chr8:7949220-8145999	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv1016780	chr8:7972326-8148289	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1026278	chr8:7977998-8141431	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1022641	chr8:7989951-8145999	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1025044	chr8:8002361-8145999	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1016286	chr8:8009192-8145999	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1026631	chr8:8018024-8145999	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv1017746	chr8:8018024-8148810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv890326	chr8:8036195-8154857	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv610146	chr8:8042902-8145440	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1028595	chr8:8055248-8145999	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1027134	chr8:8055248-8147999	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1022805	chr8:8055248-8148289	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv1031855	chr8:8055248-8148810	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	nsv1021458	chr8:8055248-8150342	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	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
30	nsv890328	chr8:8065046-8154857	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	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
32	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
33	nsv429856	chr8:8069130-8145931	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	nsv429857	chr8:8069130-8150342	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
35	esv34576	chr8:8069131-8145931	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
36	nsv429859	chr8:8069131-8145931	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
37	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
38	nsv1019795	chr8:8087144-8141431	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
39	nsv1020948	chr8:8087144-8145999	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
40	nsv1033813	chr8:8087144-8148289	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	nsv1030169	chr8:8092025-8145999	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
42	nsv1034362	chr8:8092025-8148289	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
43	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
44	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
45	nsv465440	chr8:8094406-8145440	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
46	nsv465441	chr8:8094406-8145440	Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
47	nsv465442	chr8:8094406-8145440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
48	nsv610148	chr8:8094406-8145440	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
49	nsv1015765	chr8:8094763-8145999	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
50	nsv465443	chr8:8098079-8145440	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs793509	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8128400-8140800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:8128800-8142600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8132600-8141200	Weak transcription	A549	lung
4	chr8:8137200-8143400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:8137400-8146000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:8138600-8139400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:8138600-8139400	Enhancers	NHEK	skin
8	chr8:8138600-8147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:8139000-8139400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:8139000-8139400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:8139000-8139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:8139000-8139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:8139200-8139400	Enhancers	HMEC	breast
14	chr8:8139200-8139800	Active TSS	GM12878-XiMat	blood
15	chr8:8139200-8140400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:8139200-8140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:8139200-8141000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:8139200-8141200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:8139200-8142400	Weak transcription	Fetal Lung	lung
20	chr8:8139200-8142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:8139200-8143400	Weak transcription	HUVEC	blood vessel
22	chr8:8139200-8143600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:8139200-8143800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links