Variant report

Variant	rs8007194
Chromosome Location	chr14:69035425-69035426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69034895..69037596-chr14:69073887..69076844,4	MCF-7	breast:
2	chr14:68934627..68937001-chr14:69034855..69037345,2	MCF-7	breast:
3	chr14:69008510..69012308-chr14:69035243..69038213,3	MCF-7	breast:
4	chr14:68772189..68774802-chr14:69035242..69038239,3	MCF-7	breast:
5	chr14:68924273..68927929-chr14:69034368..69037492,4	MCF-7	breast:
6	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
7	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:
8	chr14:68925379..68928137-chr14:69035379..69037742,2	MCF-7	breast:
9	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
10	chr14:69013020..69016426-chr14:69030419..69035616,4	MCF-7	breast:
11	chr14:69034656..69036292-chr14:69039582..69041305,3	MCF-7	breast:
12	chr14:69034578..69039415-chr14:69094170..69096793,5	MCF-7	breast:
13	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:
14	chr14:68937607..68939894-chr14:69035337..69036971,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1468280	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs2525503	0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6573841	0.89[CHD][hapmap]
rs7153476	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:69029800-69036400	Weak transcription	Gastric	stomach
3	chr14:69030800-69035600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:69030800-69036400	Weak transcription	Fetal Heart	heart
5	chr14:69030800-69041600	Weak transcription	NHLF	lung
6	chr14:69031200-69036200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:69031200-69041800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:69031600-69035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:69031600-69035800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:69031800-69035600	Weak transcription	Left Ventricle	heart
11	chr14:69031800-69036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69032000-69035800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:69032000-69035800	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:69032000-69036200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:69032000-69036200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:69032200-69035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:69032400-69035800	Weak transcription	NH-A	brain
18	chr14:69032400-69036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:69032400-69041400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:69032600-69036400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:69032800-69035800	Weak transcription	Fetal Intestine Small	intestine
22	chr14:69032800-69035800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:69032800-69036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:69032800-69040800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:69033000-69035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:69033000-69039600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:69033200-69041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:69033400-69035600	Weak transcription	Esophagus	oesophagus
29	chr14:69033400-69035600	Weak transcription	Placenta	Placenta
30	chr14:69033400-69035600	Weak transcription	Lung	lung
31	chr14:69033400-69035800	Weak transcription	Fetal Kidney	kidney
32	chr14:69033400-69035800	Weak transcription	Fetal Lung	lung
33	chr14:69033400-69036000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:69033400-69036000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:69033400-69036000	Weak transcription	Right Atrium	heart
36	chr14:69033400-69036400	Weak transcription	Right Ventricle	heart
37	chr14:69033400-69036800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:69033400-69039400	Weak transcription	Spleen	Spleen
39	chr14:69033600-69035600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:69033600-69035600	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:69033600-69035600	Weak transcription	Fetal Thymus	thymus
42	chr14:69033600-69035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:69033600-69036000	Weak transcription	Psoas Muscle	Psoas
44	chr14:69033600-69036000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:69033600-69036800	Weak transcription	Ovary	ovary
46	chr14:69033600-69041600	Weak transcription	Hela-S3	cervix
47	chr14:69034400-69037800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:69034400-69038000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:69034800-69036400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:69034800-69037200	Enhancers	Stomach Mucosa	stomach

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