Variant report

Variant	rs2670888
Chromosome Location	chr8:131260164-131260165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:131259439-131260694	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:131259695-131260552	GM12878	blood:	n/a	n/a
3	BCL11A	chr8:131259837-131260214	GM12878	blood:	n/a	n/a
4	MEF2A	chr8:131259895-131260441	GM12878	blood:	n/a	chr8:131260179-131260194 chr8:131260177-131260192 chr8:131260177-131260194
5	TBP	chr8:131259860-131260368	GM12878	blood:	n/a	n/a
6	POU2F2	chr8:131259723-131260278	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:131259708-131260328	GM12892	blood:	n/a	n/a
8	YY1	chr8:131259716-131260177	GM12878	blood:	n/a	n/a
9	EP300	chr8:131259850-131260467	GM12878	blood:	n/a	n/a
10	MAX	chr8:131259928-131260867	GM12878	blood:	n/a	n/a
11	RELA	chr8:131259780-131260698	GM19099	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
12	TAF1	chr8:131259835-131260174	GM12878	blood:	n/a	n/a
13	BATF	chr8:131259836-131260188	GM12878	blood:	n/a	n/a
14	FOXM1	chr8:131259776-131260372	GM12878	blood:	n/a	n/a
15	NFE2	chr8:131260102-131260243	GM12878	blood:	n/a	n/a
16	CHD2	chr8:131259769-131260472	GM12878	blood:	n/a	n/a
17	POU2F2	chr8:131259841-131260210	GM12878	blood:	n/a	n/a
18	BCL11A	chr8:131259882-131260203	GM12878	blood:	n/a	n/a
19	ZNF384	chr8:131259589-131260187	GM12878	blood:	n/a	n/a
20	NFYB	chr8:131259977-131260461	GM12878	blood:	n/a	chr8:131260287-131260300
21	RUNX3	chr8:131259691-131261155	GM12878	blood:	n/a	n/a
22	RELA	chr8:131259793-131261294	GM10847	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
23	NFIC	chr8:131259771-131260337	GM12878	blood:	n/a	n/a
24	EBF1	chr8:131259735-131260339	GM12878	blood:	n/a	n/a
25	RELA	chr8:131259764-131260322	GM19193	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
26	POLR2A	chr8:131259629-131261157	Raji	blood:	n/a	n/a
27	POLR2A	chr8:131259758-131260176	GM12878	blood:	n/a	n/a
28	SP1	chr8:131259834-131260331	GM12878	blood:	n/a	n/a
29	RELA	chr8:131259780-131260286	GM18526	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
30	ATF2	chr8:131259661-131260445	GM12878	blood:	n/a	n/a
31	CUX1	chr8:131259825-131260388	GM12878	blood:	n/a	n/a
32	FOXM1	chr8:131259613-131260409	GM12878	blood:	n/a	n/a
33	MXI1	chr8:131259795-131260385	GM12878	blood:	n/a	chr8:131260201-131260210
34	BCLAF1	chr8:131259742-131260345	GM12878	blood:	n/a	n/a
35	RELA	chr8:131259676-131260322	GM15510	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
36	RELA	chr8:131259723-131260557	GM12878	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
37	TBL1XR1	chr8:131259344-131260509	GM12878	blood:	n/a	n/a
38	RELA	chr8:131259659-131260282	GM18951	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
39	STAT1	chr8:131259956-131260276	GM12878	blood:	n/a	n/a
40	BCLAF1	chr8:131259753-131260282	GM12878	blood:	n/a	n/a
41	BHLHE40	chr8:131259609-131260371	GM12878	blood:	n/a	n/a
42	ZNF143	chr8:131259847-131260190	GM12878	blood:	n/a	n/a
43	NFIC	chr8:131259600-131260511	GM12878	blood:	n/a	n/a
44	EP300	chr8:131259875-131260362	GM12878	blood:	n/a	n/a
45	RELA	chr8:131259740-131261187	GM18505	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
46	MAX	chr8:131259892-131260637	GM12878	blood:	n/a	n/a
47	RELA	chr8:131259821-131260589	GM12892	blood:	n/a	chr8:131260037-131260046 chr8:131260037-131260046
48	BCL3	chr8:131259831-131260211	GM12878	blood:	n/a	n/a
49	IKZF1	chr8:131259793-131260339	GM12878	blood:	n/a	n/a
50	EP300	chr8:131259827-131260273	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10085959	0.83[AFR][1000 genomes]
rs10089819	0.83[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10091450	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097893	0.80[AFR][1000 genomes]
rs10100892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10103280	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs1031474	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1031475	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956512	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679149	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904259	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2554369	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2554372	0.82[CHB][hapmap]
rs2670885	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2670890	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2670891	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2791338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2791342	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2791343	0.84[CEU][hapmap];0.84[ASN][1000 genomes]
rs2791350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs28491737	0.80[AFR][1000 genomes]
rs28495072	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6415510	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470801	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6470804	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7002892	0.81[ASN][1000 genomes]
rs7003309	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs7004884	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7008507	0.93[ASN][1000 genomes]
rs7846376	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9297805	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
4	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
5	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
6	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
8	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:131250800-131260200	Weak transcription	HMEC	breast
10	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:131250800-131270600	Weak transcription	NH-A	brain
12	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
17	chr8:131252400-131260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:131252400-131260600	Weak transcription	K562	blood
19	chr8:131254000-131262200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:131254200-131262800	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:131254600-131262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:131254800-131262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:131255400-131265200	Weak transcription	HSMM	muscle
24	chr8:131256000-131267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:131256600-131260800	Weak transcription	NHLF	lung
26	chr8:131256600-131261600	Enhancers	Fetal Thymus	thymus
27	chr8:131256600-131268200	Weak transcription	HSMMtube	muscle
28	chr8:131257200-131262600	Weak transcription	Brain Anterior Caudate	brain
29	chr8:131257200-131264600	Weak transcription	Osteobl	bone
30	chr8:131257400-131260400	Weak transcription	Ovary	ovary
31	chr8:131257400-131260600	Weak transcription	Psoas Muscle	Psoas
32	chr8:131257400-131260600	Weak transcription	NHDF-Ad	bronchial
33	chr8:131257400-131260800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:131257400-131262400	Weak transcription	Brain Substantia Nigra	brain
35	chr8:131257400-131262600	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:131257400-131263800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:131257400-131281600	Weak transcription	Gastric	stomach
39	chr8:131257600-131265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:131258000-131260600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:131258000-131262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:131258000-131263200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
44	chr8:131258200-131260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:131258200-131260200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:131258200-131260600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:131258400-131262200	Enhancers	Right Atrium	heart
48	chr8:131258400-131267200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:131258600-131260800	Strong transcription	A549	lung
50	chr8:131258600-131261000	Weak transcription	HUVEC	blood vessel

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