Variant report

Variant	rs240395
Chromosome Location	chr6:75977591-75977592
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75974447..75978306-chr6:75980001..75984136,4	MCF-7	breast:
2	chr6:75975053..75977657-chr6:75987752..75989957,2	K562	blood:

Variant related genes	Relation type
ENSG00000112697	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1203210	0.90[CEU][hapmap]
rs1203215	0.83[EUR][1000 genomes]
rs12198145	1.00[CEU][hapmap]
rs12215389	1.00[CEU][hapmap]
rs1407733	0.90[CEU][hapmap]
rs1407734	0.90[CEU][hapmap]
rs1474847	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs171264	1.00[CEU][hapmap]
rs173274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967709	0.90[CEU][hapmap]
rs240363	0.90[CEU][hapmap]
rs240366	0.81[CEU][hapmap]
rs240370	0.81[EUR][1000 genomes]
rs240384	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs240394	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240399	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240408	0.87[EUR][1000 genomes]
rs240411	0.91[EUR][1000 genomes]
rs240414	1.00[CEU][hapmap]
rs240417	1.00[CEU][hapmap]
rs240418	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs240421	0.83[EUR][1000 genomes]
rs240422	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs240433	0.90[CEU][hapmap]
rs3756791	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs3777507	1.00[CEU][hapmap]
rs3777510	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs409536	0.83[EUR][1000 genomes]
rs415416	0.83[EUR][1000 genomes]
rs431116	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs436898	0.83[EUR][1000 genomes]
rs511970	1.00[CEU][hapmap]
rs588691	0.90[CEU][hapmap]
rs656182	0.83[EUR][1000 genomes]
rs743003	0.90[CEU][hapmap]
rs743004	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7768671	0.90[CEU][hapmap]
rs910523	0.90[CEU][hapmap]
rs9293997	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9443160	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv603764	chr6:75963751-76025603	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75953800-75978200	Weak transcription	Gastric	stomach
2	chr6:75953800-75982200	Weak transcription	Spleen	Spleen
3	chr6:75954200-75978000	Weak transcription	Pancreas	Pancrea
4	chr6:75954200-75978000	Weak transcription	Small Intestine	intestine
5	chr6:75954200-75978000	Weak transcription	Stomach Mucosa	stomach
6	chr6:75954200-75978200	Weak transcription	Esophagus	oesophagus
7	chr6:75954200-75978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:75954400-75977600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:75954400-75978000	Weak transcription	Right Ventricle	heart
10	chr6:75954400-75978000	Weak transcription	Hela-S3	cervix
11	chr6:75954400-75986000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:75954600-75982400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:75954800-75982200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:75954800-75988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:75960600-75981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:75961600-75978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:75962400-75977600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:75967000-75978200	Weak transcription	Aorta	Aorta
19	chr6:75967800-75988200	Weak transcription	Fetal Brain Male	brain
20	chr6:75968600-75981600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:75969400-75981400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:75969600-75983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:75969600-75992200	Weak transcription	Colonic Mucosa	Colon
24	chr6:75970000-75992400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:75970200-75978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:75970200-75982000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:75972200-75978200	Weak transcription	Left Ventricle	heart
28	chr6:75972600-75978200	Weak transcription	Ovary	ovary
29	chr6:75973000-75985200	Weak transcription	HepG2	liver
30	chr6:75973200-75982200	Weak transcription	Thymus	Thymus
31	chr6:75973200-75985000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:75973400-75978200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:75973400-75985600	Weak transcription	Lung	lung
34	chr6:75973400-75988200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:75973600-75979800	Weak transcription	HSMMtube	muscle
36	chr6:75973800-75978000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:75973800-75978000	Weak transcription	GM12878-XiMat	blood
38	chr6:75973800-75982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:75974000-75978000	Weak transcription	Psoas Muscle	Psoas
40	chr6:75974000-75978200	Weak transcription	Primary B cells from cord blood	blood
41	chr6:75974000-75980000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:75974000-75980200	Weak transcription	HSMM	muscle
43	chr6:75974000-75981600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:75974000-75982000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:75974000-75982200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:75974000-75986200	Weak transcription	K562	blood
47	chr6:75974000-75988000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:75974200-75978200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:75974200-75980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:75974200-75981400	Weak transcription	Adipose Nuclei	Adipose

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