Variant report

Variant	rs16927336
Chromosome Location	chr8:48439013-48439014
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	SP1	chr8:48438496-48439097	A549	lung:	n/a	chr8:48439001-48439022
2	SP1	chr8:48438610-48439137	A549	lung:	n/a	chr8:48439086-48439107 chr8:48439001-48439022
3	FOXA1	chr8:48438607-48439414	A549	lung:	n/a	n/a
4	BCL3	chr8:48438582-48439175	A549	lung:	n/a	n/a
5	NR3C1	chr8:48438439-48439376	A549	lung:	n/a	chr8:48438811-48438837 chr8:48438736-48438750
6	NR3C1	chr8:48438457-48439351	A549	lung:	n/a	chr8:48438811-48438837 chr8:48438736-48438750
7	FOXA1	chr8:48438562-48439603	A549	lung:	n/a	n/a
8	NR3C1	chr8:48438227-48439476	A549	lung:	n/a	chr8:48438811-48438837 chr8:48438736-48438750 chr8:48438418-48438427
9	NR3C1	chr8:48438997-48439329	A549	lung:	n/a	n/a
10	NR3C1	chr8:48438231-48439379	A549	lung:	n/a	chr8:48438811-48438837 chr8:48438736-48438750 chr8:48438418-48438427
11	FOXA2	chr8:48438645-48439349	A549	lung:	n/a	n/a
12	FOXA2	chr8:48438495-48439068	A549	lung:	n/a	n/a
13	EP300	chr8:48438646-48439034	SK-N-SH_RA	brain:	n/a	n/a
14	TCF12	chr8:48438374-48439485	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48424864..48427564-chr8:48437009..48439123,4	MCF-7	breast:
2	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
3	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269924	TF binding region
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs16925237	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16925242	0.83[GIH][hapmap]
rs16926041	0.83[GIH][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16926621	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs16927308	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16930142	0.94[YRI][hapmap]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	1.00[AMR][1000 genomes]
rs57274985	1.00[AMR][1000 genomes]
rs57659543	1.00[AMR][1000 genomes]
rs58572522	1.00[AMR][1000 genomes]
rs58592579	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	1.00[AMR][1000 genomes]
rs59422998	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	1.00[AMR][1000 genomes]
rs73565273	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73567511	1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AMR][1000 genomes]
rs73567594	1.00[AMR][1000 genomes]
rs73567596	1.00[AMR][1000 genomes]
rs73567597	1.00[AMR][1000 genomes]
rs73569205	1.00[AMR][1000 genomes]
rs73569208	1.00[AMR][1000 genomes]
rs73569212	1.00[AMR][1000 genomes]
rs73569216	1.00[AMR][1000 genomes]
rs73569220	1.00[AMR][1000 genomes]
rs73569223	1.00[AMR][1000 genomes]
rs73569224	1.00[AMR][1000 genomes]
rs73569227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571448	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571453	1.00[AMR][1000 genomes]
rs73571454	1.00[AMR][1000 genomes]
rs73571459	1.00[AMR][1000 genomes]
rs73571460	1.00[AMR][1000 genomes]
rs73571462	1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	1.00[AMR][1000 genomes]
rs73582860	1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
3	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
4	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
6	chr8:48434400-48439800	Enhancers	Placenta	Placenta
7	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
8	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
11	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
12	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:48434800-48439200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:48434800-48439200	Enhancers	Hela-S3	cervix
15	chr8:48434800-48439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:48434800-48439800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:48434800-48440000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:48434800-48440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:48434800-48440400	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:48434800-48440400	Enhancers	Fetal Intestine Large	intestine
23	chr8:48435000-48439400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:48435000-48440000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:48435000-48440000	Enhancers	Fetal Intestine Small	intestine
26	chr8:48435000-48440000	Enhancers	Fetal Kidney	kidney
27	chr8:48435000-48440200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:48435200-48440200	Enhancers	Primary B cells from cord blood	blood
29	chr8:48435400-48439600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:48435800-48439400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:48435800-48439600	Enhancers	Fetal Thymus	thymus
32	chr8:48435800-48439800	Enhancers	Fetal Stomach	stomach
33	chr8:48435800-48439800	Enhancers	Psoas Muscle	Psoas
34	chr8:48435800-48440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:48435800-48440400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:48436000-48439400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:48436000-48440000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:48436200-48439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48436400-48441400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:48436600-48440200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:48436600-48445400	Weak transcription	GM12878-XiMat	blood
42	chr8:48436800-48439200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:48436800-48439200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:48436800-48439200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:48436800-48439200	Enhancers	Osteobl	bone
46	chr8:48436800-48440000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:48437000-48440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:48437000-48440400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:48437200-48439400	Enhancers	NHLF	lung
50	chr8:48437200-48439600	Enhancers	Colonic Mucosa	Colon

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