Variant report

Variant	rs4899367
Chromosome Location	chr14:71201804-71201805
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	chr14:71195704..71197706-chr14:71200302..71202313,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10129307	0.89[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12879569	0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1476610	0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2023955	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2107665	0.87[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2158526	0.83[ASN][1000 genomes]
rs2158527	0.83[ASN][1000 genomes]
rs3814872	0.81[MKK][hapmap]
rs4141095	0.89[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899368	0.81[MKK][hapmap]
rs4902860	0.82[AMR][1000 genomes]
rs4902863	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs6573978	0.94[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs7152246	0.81[ASN][1000 genomes]
rs7155910	0.85[GIH][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs8006424	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011047	0.89[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
4	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
5	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
7	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney
9	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:71193400-71211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:71193600-71210200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:71193800-71209400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:71193800-71209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:71194000-71208400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
16	chr14:71194200-71209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:71194400-71210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:71194400-71213400	Weak transcription	Psoas Muscle	Psoas
19	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
20	chr14:71194600-71218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:71195600-71202200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:71195600-71209400	Strong transcription	Placenta	Placenta
24	chr14:71195600-71209600	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr14:71195600-71210000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr14:71196200-71209200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:71196200-71217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:71196400-71202000	Strong transcription	Fetal Intestine Small	intestine
29	chr14:71196400-71209400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:71196800-71206600	Weak transcription	Aorta	Aorta
31	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:71197400-71204600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:71197600-71217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:71197800-71203800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:71198400-71203000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:71198400-71209400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:71198800-71210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:71199000-71202000	Strong transcription	Esophagus	oesophagus
40	chr14:71199000-71212400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:71199400-71203800	Weak transcription	Brain Angular Gyrus	brain
42	chr14:71199400-71209000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:71199600-71205000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:71199600-71209400	Strong transcription	HMEC	breast
45	chr14:71199600-71219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:71199800-71204800	Weak transcription	Right Ventricle	heart
47	chr14:71200000-71204000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:71200000-71205000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:71200000-71210200	Strong transcription	NHEK	skin
50	chr14:71200200-71203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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