Variant report

Variant	rs1946941
Chromosome Location	chr8:96102974-96102975
allele	A/G
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	POLR2A	chr8:96102528-96102979	K562	blood:	n/a	n/a
2	RUNX3	chr8:96101681-96103037	GM12878	blood:	n/a	n/a
3	STAT5A	chr8:96101823-96103030	GM12878	blood:	n/a	chr8:96101933-96101941 chr8:96102479-96102487
4	JUND	chr8:96102492-96103096	SK-N-SH	brain:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
5	RUNX3	chr8:96101697-96103225	GM12878	blood:	n/a	n/a
6	IRF1	chr8:96102264-96103114	K562	blood:	n/a	chr8:96102447-96102456 chr8:96102495-96102512
7	GATA3	chr8:96102488-96103123	SK-N-SH	brain:	n/a	chr8:96102760-96102777 chr8:96102795-96102805
8	TBL1XR1	chr8:96102471-96103012	K562	blood:	n/a	n/a
9	BACH1	chr8:96102586-96102974	K562	blood:	n/a	n/a
10	PML	chr8:96101695-96104710	GM12878	blood:	n/a	chr8:96102328-96102336
11	TCF12	chr8:96102427-96103142	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr8:96102316-96103023	K562	blood:	n/a	chr8:96102503-96102512
13	POLR2A	chr8:96102442-96103142	K562	blood:	n/a	n/a
14	JUN	chr8:96102528-96102983	K562	blood:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
15	POLR2A	chr8:96102317-96103211	GM12891	blood:	n/a	n/a
16	POLR2A	chr8:96101718-96104035	GM12878	blood:	n/a	n/a
17	MAZ	chr8:96102320-96103012	K562	blood:	n/a	n/a
18	FOS	chr8:96102581-96102977	HUVEC	blood vessel:	n/a	chr8:96102777-96102788 chr8:96102779-96102787 chr8:96102780-96102787
19	FOXM1	chr8:96101695-96103062	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:96101910-96103184	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:96102622-96103167	K562	blood:	n/a	n/a
22	RCOR1	chr8:96102210-96103004	K562	blood:	n/a	n/a
23	CUX1	chr8:96101829-96103085	K562	blood:	n/a	n/a
24	JUN	chr8:96102562-96102975	HUVEC	blood vessel:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
25	CBX3	chr8:96102165-96103174	K562	blood:	n/a	n/a
26	GATA2	chr8:96102432-96103204	K562	blood:	n/a	chr8:96102760-96102777 chr8:96102795-96102805 chr8:96102445-96102455
27	HEY1	chr8:96102829-96103198	K562	blood:	n/a	n/a
28	POLR2A	chr8:96101758-96103926	GM12878	blood:	n/a	n/a
29	CEBPD	chr8:96102462-96103186	K562	blood:	n/a	n/a
30	PBX3	chr8:96102541-96103163	SK-N-SH	brain:	n/a	n/a
31	JUN	chr8:96102286-96103040	K562	blood:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
32	POLR2A	chr8:96101812-96103861	GM12878	blood:	n/a	n/a
33	JUND	chr8:96102297-96103057	K562	blood:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
34	FOS	chr8:96102371-96102975	MCF10A-Er-Src	breast:	n/a	chr8:96102777-96102788 chr8:96102779-96102787 chr8:96102780-96102787
35	MTA3	chr8:96101699-96103239	GM12878	blood:	n/a	n/a
36	MTA3	chr8:96101666-96104592	GM12878	blood:	n/a	n/a
37	TRIM28	chr8:96102343-96103042	K562	blood:	n/a	n/a
38	POLR2A	chr8:96101622-96104629	GM12878	blood:	n/a	n/a
39	TBP	chr8:96102617-96103066	K562	blood:	n/a	n/a
40	NR2F2	chr8:96102122-96103139	K562	blood:	n/a	n/a
41	EBF1	chr8:96101795-96102988	GM12878	blood:	n/a	n/a
42	FOSL2	chr8:96102471-96103077	SK-N-SH	brain:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
43	PBX3	chr8:96102577-96103005	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr8:96102279-96103206	GM12892	blood:	n/a	n/a
45	ELF1	chr8:96102640-96102997	K562	blood:	n/a	chr8:96102795-96102808
46	POLR2A	chr8:96102306-96103194	GM12892	blood:	n/a	n/a
47	EP300	chr8:96101974-96103110	K562	blood:	n/a	n/a
48	GATA1	chr8:96102339-96103177	PBDE	blood:	n/a	chr8:96102760-96102777 chr8:96102795-96102805 chr8:96102445-96102455
49	POLR2A	chr8:96102902-96103153	GM12878	blood:	n/a	n/a
50	NFIC	chr8:96101706-96106155	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
2	chr8:96102764..96105362-chr8:96180732..96183307,2	K562	blood:
3	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
4	chr8:96092840..96095684-chr8:96102296..96104588,4	K562	blood:
5	chr8:96095732..96098927-chr8:96100479..96105447,7	K562	blood:
6	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
7	chr8:96102685..96105358-chr8:96146565..96148952,2	K562	blood:
8	chr8:96036531..96038925-chr8:96102648..96104628,2	K562	blood:
9	chr8:96078349..96080804-chr8:96101841..96104257,3	K562	blood:
10	chr8:96102212..96104143-chr8:96108955..96110574,2	K562	blood:

Variant related genes	Relation type
ENSG00000254248	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11781134	1.00[CHB][hapmap]
rs11781447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11784746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12543421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248868	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13251032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13251759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13273307	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274368	1.00[ASN][1000 genomes]
rs13276227	0.88[EUR][1000 genomes]
rs1451711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341400	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34901613	0.97[ASN][1000 genomes]
rs4236831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321970	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4323439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4329243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4540384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471513	0.94[YRI][hapmap]
rs6987762	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96098800-96103800	Weak transcription	HepG2	liver
3	chr8:96100000-96104200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:96100400-96103200	Enhancers	NHEK	skin
5	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:96100400-96113600	Weak transcription	Lung	lung
7	chr8:96100600-96103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:96100600-96106800	Weak transcription	Spleen	Spleen
9	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:96100800-96104600	Weak transcription	Placenta	Placenta
11	chr8:96100800-96104800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:96100800-96107600	Weak transcription	Hela-S3	cervix
13	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:96101800-96103000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:96101800-96103000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:96101800-96103000	Enhancers	NH-A	brain
17	chr8:96101800-96103000	Enhancers	Osteobl	bone
18	chr8:96101800-96103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:96101800-96103200	Flanking Active TSS	GM12878-XiMat	blood
20	chr8:96101800-96103200	Enhancers	HUVEC	blood vessel
21	chr8:96101800-96103400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:96101800-96104200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:96102000-96103000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:96102000-96103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96102000-96103200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:96102000-96103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:96102000-96106600	Enhancers	Primary B cells from cord blood	blood
28	chr8:96102000-96107400	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:96102200-96103000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:96102200-96103000	Enhancers	Thymus	Thymus
31	chr8:96102200-96103200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:96102200-96103600	Enhancers	Fetal Thymus	thymus
33	chr8:96102400-96103000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:96102400-96103000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:96102400-96103000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:96102400-96103000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:96102400-96103000	Enhancers	HMEC	breast
38	chr8:96102400-96103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:96102400-96103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:96102400-96103200	Enhancers	Stomach Mucosa	stomach
41	chr8:96102400-96107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:96102800-96103400	Active TSS	K562	blood
43	chr8:96102800-96105600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:96102800-96105600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:96102800-96112000	Weak transcription	A549	lung

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