Variant report

Variant	rs8005596
Chromosome Location	chr14:34987129-34987130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34985976..34987931-chr14:35007272..35009359,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12436083	0.91[AMR][1000 genomes]
rs4982185	0.81[EUR][1000 genomes]
rs55665158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72673450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72673453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72673462	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
14	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
17	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr14:34972200-34989800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:34975600-34988000	Weak transcription	A549	lung
3	chr14:34975600-34988200	Weak transcription	Gastric	stomach
4	chr14:34975600-34989800	Weak transcription	Pancreas	Pancrea
5	chr14:34979600-34989600	Weak transcription	Psoas Muscle	Psoas
6	chr14:34980000-34987200	Weak transcription	NH-A	brain
7	chr14:34980000-34990200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:34980600-34991200	Weak transcription	Fetal Kidney	kidney
9	chr14:34980600-34993800	Weak transcription	K562	blood
10	chr14:34980800-34987200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:34981200-34987800	Weak transcription	HSMMtube	muscle
12	chr14:34981400-34987200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:34981400-34992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:34982000-34987200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:34982000-34989600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:34982400-34987200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:34982600-34987200	Weak transcription	Small Intestine	intestine
18	chr14:34982600-34987600	Weak transcription	NHLF	lung
19	chr14:34982600-34987800	Weak transcription	NHEK	skin
20	chr14:34982600-34991600	Weak transcription	HSMM	muscle
21	chr14:34983000-34987200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:34983200-34987400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:34983200-34988200	Weak transcription	Right Ventricle	heart
24	chr14:34983200-34991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:34983200-34991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:34983600-34987200	Weak transcription	Colonic Mucosa	Colon
27	chr14:34983600-34987200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:34983600-34987800	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:34983600-34989800	Weak transcription	Hela-S3	cervix
30	chr14:34983800-34987200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:34983800-34987200	Weak transcription	Brain Anterior Caudate	brain
32	chr14:34983800-34987200	Weak transcription	Fetal Thymus	thymus
33	chr14:34983800-34987600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:34983800-34990400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:34983800-34991600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:34984000-34987200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:34984000-34987200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:34984000-34988000	Weak transcription	Fetal Brain Male	brain
39	chr14:34984200-34987600	Weak transcription	Aorta	Aorta
40	chr14:34984200-34988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:34984200-34988000	Weak transcription	GM12878-XiMat	blood
42	chr14:34984400-34988200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:34984400-34989600	Strong transcription	Fetal Intestine Small	intestine
44	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
45	chr14:34984600-35005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:34984800-34987200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:34984800-34987200	Weak transcription	NHDF-Ad	bronchial
48	chr14:34984800-34987600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:34984800-34988000	Weak transcription	Fetal Heart	heart
50	chr14:34984800-34989400	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links