Variant report

Variant	rs1265329
Chromosome Location	chr6:4805592-4805593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4804953..4807169-chr6:4808675..4810449,2	MCF-7	breast:
2	chr6:4804988..4807202-chr6:4935507..4937901,2	MCF-7	breast:
3	chr6:4800052..4801970-chr6:4804780..4807204,2	K562	blood:
4	chr6:4774443..4775951-chr6:4803509..4806203,2	MCF-7	breast:
5	chr6:4776564..4779894-chr6:4804757..4807195,3	MCF-7	breast:
6	chr6:4804785..4806447-chr6:4808370..4810719,2	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022497	0.86[AFR][1000 genomes]
rs1022498	0.86[AFR][1000 genomes]
rs1091274	1.00[ASW][hapmap];0.84[MKK][hapmap]
rs11967447	0.83[AFR][1000 genomes]
rs11967765	0.89[AFR][1000 genomes]
rs11967801	0.89[AFR][1000 genomes]
rs11967926	0.83[AFR][1000 genomes]
rs11968053	0.83[AFR][1000 genomes]
rs1265331	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2875969	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4367417	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs56740053	0.91[AFR][1000 genomes]
rs57143473	0.91[AFR][1000 genomes]
rs57484544	0.91[AFR][1000 genomes]
rs57890105	0.83[AFR][1000 genomes]
rs59852455	0.91[AFR][1000 genomes]
rs60632423	0.83[AFR][1000 genomes]
rs6911106	0.83[AFR][1000 genomes]
rs6922314	0.91[AFR][1000 genomes]
rs6936040	0.89[AFR][1000 genomes]
rs6939986	0.83[AFR][1000 genomes]
rs7744408	0.86[AFR][1000 genomes]
rs7747385	0.91[AFR][1000 genomes]
rs7748721	0.86[AFR][1000 genomes]
rs7762268	0.86[AFR][1000 genomes]
rs7764676	0.83[AFR][1000 genomes]
rs7764795	0.83[AFR][1000 genomes]
rs7765321	0.83[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap]
rs808621	1.00[ASW][hapmap];0.81[MKK][hapmap]
rs808623	1.00[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs808624	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
2	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:4795000-4806200	Weak transcription	Gastric	stomach
4	chr6:4795200-4806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:4800000-4810400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:4801000-4805600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:4801800-4811600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:4802200-4811200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:4802400-4806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:4802400-4807000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:4802400-4807400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:4802400-4810400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:4802400-4812000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:4802800-4805800	Weak transcription	Fetal Brain Male	brain
16	chr6:4802800-4806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:4803200-4806200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:4803200-4806600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:4803400-4806400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:4803400-4806800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:4803400-4807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:4803400-4814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:4803600-4806400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:4803600-4806400	Enhancers	A549	lung
25	chr6:4803600-4808400	Weak transcription	Primary T cells from cord blood	blood
26	chr6:4803600-4810800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:4803800-4806000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:4803800-4806000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:4803800-4806200	Weak transcription	Adipose Nuclei	Adipose
30	chr6:4803800-4806600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:4803800-4807000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:4803800-4810400	Weak transcription	Small Intestine	intestine
33	chr6:4804000-4805600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:4804000-4805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:4804000-4805800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:4804000-4806000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:4804000-4806200	Weak transcription	Fetal Heart	heart
38	chr6:4804000-4806200	Weak transcription	Fetal Lung	lung
39	chr6:4804000-4806200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:4804000-4806200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:4804000-4806200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr6:4804000-4807000	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:4804000-4807200	Weak transcription	Fetal Thymus	thymus
44	chr6:4804000-4809200	Weak transcription	Fetal Stomach	stomach
45	chr6:4804200-4806000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:4804400-4805800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:4804400-4807400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:4804600-4805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:4804600-4805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:4804600-4806200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links