Variant report

Variant	rs8005773
Chromosome Location	chr14:21775816-21775817
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21768791..21773432-chr14:21775011..21777048,5	MCF-7	breast:
2	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
3	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
4	chr14:21775706..21777351-chr14:21851149..21853404,2	MCF-7	breast:
5	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
6	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
7	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
8	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
9	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
10	chr14:21698305..21701103-chr14:21775340..21777251,2	MCF-7	breast:
11	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
12	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
13	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
14	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
15	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
16	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
17	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
18	chr14:21715916..21717624-chr14:21774839..21777114,2	MCF-7	breast:
19	chr14:21770316..21772335-chr14:21774235..21777152,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092199	Chromatin interaction
ENSG00000092200	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000258441	Chromatin interaction
ENSG00000092201	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10129999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131472	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs10135556	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10151259	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17103267	0.84[CEU][hapmap]
rs17197065	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs61977469	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61977482	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7140235	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144592	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8021748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322961	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs9322965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21767600-21776600	Weak transcription	Placenta	Placenta
2	chr14:21769400-21776400	Weak transcription	Right Atrium	heart
3	chr14:21769600-21776200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:21770600-21776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:21771000-21776400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:21771600-21776600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:21774200-21776200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:21775000-21776600	Enhancers	Stomach Mucosa	stomach
9	chr14:21775200-21776000	Enhancers	HepG2	liver
10	chr14:21775200-21776200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:21775400-21776600	Enhancers	Fetal Intestine Large	intestine
12	chr14:21775600-21776000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:21775600-21776000	Enhancers	Fetal Heart	heart
14	chr14:21775600-21776200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:21775600-21776200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:21775600-21776200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:21775600-21776200	Enhancers	Liver	Liver
18	chr14:21775600-21776200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:21775600-21776200	Enhancers	A549	lung
20	chr14:21775600-21776200	Enhancers	K562	blood
21	chr14:21775600-21776400	Enhancers	Primary B cells from cord blood	blood
22	chr14:21775600-21776600	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:21775800-21776200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:21775800-21776200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:21775800-21776200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr14:21775800-21776400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:21775800-21776400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:21775800-21776400	Enhancers	Primary T cells from cord blood	blood
29	chr14:21775800-21776600	Enhancers	Fetal Intestine Small	intestine
30	chr14:21775800-21776800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:21775800-21776800	Flanking Active TSS	GM12878-XiMat	blood

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