Variant report

Variant	rs73414530
Chromosome Location	chr6:2104878-2104879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1609035..1611562-chr6:2103045..2105968,3	MCF-7	breast:
2	chr6:1604255..1605544-chr6:2104014..2105193,5	K562	blood:
3	chr6:1610117..1612459-chr6:2103517..2106482,4	MCF-7	breast:
4	chr6:2040678..2043654-chr6:2103622..2106281,2	MCF-7	breast:
5	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
6	chr6:1596571..1597477-chr6:2104218..2105175,4	K562	blood:
7	chr6:1612494..1615565-chr6:2103145..2107069,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484947	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484948	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11242727	1.00[ASN][1000 genomes]
rs11966735	1.00[ASN][1000 genomes]
rs17134626	1.00[ASN][1000 genomes]
rs17134684	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076854	1.00[ASN][1000 genomes]
rs28736862	1.00[ASN][1000 genomes]
rs35781270	1.00[ASN][1000 genomes]
rs56905405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57366578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58499654	1.00[ASN][1000 genomes]
rs59275343	1.00[ASN][1000 genomes]
rs59609802	1.00[ASN][1000 genomes]
rs59936111	1.00[ASN][1000 genomes]
rs59952501	1.00[ASN][1000 genomes]
rs61109748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930064	1.00[ASN][1000 genomes]
rs72494599	1.00[ASN][1000 genomes]
rs73410414	1.00[ASN][1000 genomes]
rs73410419	1.00[ASN][1000 genomes]
rs73410422	1.00[ASN][1000 genomes]
rs73410424	1.00[ASN][1000 genomes]
rs73410429	1.00[ASN][1000 genomes]
rs73410440	1.00[ASN][1000 genomes]
rs73410446	1.00[ASN][1000 genomes]
rs73410461	1.00[ASN][1000 genomes]
rs73412535	1.00[ASN][1000 genomes]
rs73412542	1.00[ASN][1000 genomes]
rs73412553	1.00[ASN][1000 genomes]
rs73414521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414527	1.00[ASN][1000 genomes]
rs73414537	0.87[EUR][1000 genomes]
rs73414544	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416659	1.00[ASN][1000 genomes]
rs73427457	1.00[ASN][1000 genomes]
rs73716941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73716945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1019227	chr6:2038843-2142395	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv538097	chr6:2038843-2142395	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv883387	chr6:2086679-2176239	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
14	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
15	nsv519587	chr6:2097654-2145447	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
2	chr6:2079000-2108800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2081000-2108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:2081200-2113000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:2082800-2109000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:2088800-2112200	Weak transcription	Small Intestine	intestine
8	chr6:2099400-2109200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:2102800-2105000	Enhancers	A549	lung
10	chr6:2104200-2105000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:2104400-2109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:2104400-2132000	Weak transcription	Fetal Intestine Large	intestine
13	chr6:2104600-2108800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:2104600-2108800	Weak transcription	HepG2	liver
15	chr6:2104600-2109000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:2104600-2109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:2104600-2110000	Weak transcription	Osteobl	bone
18	chr6:2104600-2110800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:2104600-2111000	Weak transcription	Hela-S3	cervix
20	chr6:2104600-2111200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:2104600-2111200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:2104600-2111200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:2104600-2112000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:2104600-2116600	Weak transcription	Dnd41	blood
25	chr6:2104600-2128200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:2104800-2109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:2104800-2110200	Weak transcription	HUVEC	blood vessel
28	chr6:2104800-2112200	Weak transcription	Left Ventricle	heart

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