Variant report

Variant	rs67771054
Chromosome Location	chr12:57349813-57349814
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57347630..57349531-chr12:57349740..57351878,2	MCF-7	breast:
2	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
3	chr12:57338428..57340285-chr12:57349754..57351660,2	MCF-7	breast:
4	chr12:57327540..57330418-chr12:57347371..57350395,3	K562	blood:
5	chr12:57327918..57330814-chr12:57348513..57351502,2	MCF-7	breast:
6	chr12:57324104..57327319-chr12:57348172..57351129,3	MCF-7	breast:
7	chr12:57081337..57084055-chr12:57347595..57351157,3	MCF-7	breast:
8	chr12:57349736..57351385-chr12:57380003..57382609,2	MCF-7	breast:
9	chr12:57319872..57321581-chr12:57347777..57350711,2	MCF-7	breast:
10	chr12:57349108..57350665-chr12:57479276..57481586,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction
ENSG00000170426	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10400412	0.94[ASN][1000 genomes]
rs10400555	0.94[ASN][1000 genomes]
rs1044939	0.86[ASN][1000 genomes]
rs10506347	0.95[EUR][1000 genomes]
rs10506350	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506351	0.86[ASN][1000 genomes]
rs1072670	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11832487	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11834851	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834856	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836517	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099695	0.97[ASN][1000 genomes]
rs12810024	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12810837	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12812499	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818342	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12824682	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827039	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1552245	0.89[ASN][1000 genomes]
rs17119301	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17119327	0.94[ASN][1000 genomes]
rs17119330	0.94[ASN][1000 genomes]
rs17119344	0.89[ASN][1000 genomes]
rs17119352	0.89[ASN][1000 genomes]
rs17119386	0.90[ASN][1000 genomes]
rs17119388	0.90[ASN][1000 genomes]
rs17119390	0.89[ASN][1000 genomes]
rs17119407	0.84[ASN][1000 genomes]
rs17119416	0.81[ASN][1000 genomes]
rs1843311	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843312	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843313	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167306	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270736	0.89[ASN][1000 genomes]
rs2270737	0.89[ASN][1000 genomes]
rs2270739	0.90[ASN][1000 genomes]
rs2279373	0.97[ASN][1000 genomes]
rs2279743	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2291855	0.94[ASN][1000 genomes]
rs2371717	0.95[ASN][1000 genomes]
rs28589663	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2888139	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34186462	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34253098	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34359134	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762603	0.81[ASN][1000 genomes]
rs34969650	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35034299	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35243318	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35493121	0.97[ASN][1000 genomes]
rs3782329	0.90[ASN][1000 genomes]
rs3782330	0.90[ASN][1000 genomes]
rs3803018	0.92[ASN][1000 genomes]
rs3894415	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4016338	0.95[ASN][1000 genomes]
rs4039	0.86[ASN][1000 genomes]
rs4143085	0.90[ASN][1000 genomes]
rs56128678	0.89[ASN][1000 genomes]
rs56270558	0.89[ASN][1000 genomes]
rs56354404	0.89[ASN][1000 genomes]
rs57056392	0.90[ASN][1000 genomes]
rs57129030	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351760	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57558853	0.94[ASN][1000 genomes]
rs58298943	0.96[ASN][1000 genomes]
rs58389529	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60258120	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60273384	0.97[ASN][1000 genomes]
rs60380217	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61504157	0.90[ASN][1000 genomes]
rs67476535	0.97[ASN][1000 genomes]
rs67844278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68126184	0.96[ASN][1000 genomes]
rs697222	0.80[ASN][1000 genomes]
rs7135297	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7136770	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71461303	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72482268	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298475	0.81[ASN][1000 genomes]
rs73114426	0.94[ASN][1000 genomes]
rs73114428	0.94[ASN][1000 genomes]
rs73114434	0.94[ASN][1000 genomes]
rs73114436	0.94[ASN][1000 genomes]
rs73114437	0.91[ASN][1000 genomes]
rs73114446	0.89[ASN][1000 genomes]
rs73114452	0.89[ASN][1000 genomes]
rs73114457	0.89[ASN][1000 genomes]
rs73114459	0.89[ASN][1000 genomes]
rs73114467	0.89[ASN][1000 genomes]
rs73114468	0.89[ASN][1000 genomes]
rs73114472	0.86[ASN][1000 genomes]
rs73116494	0.81[ASN][1000 genomes]
rs73116501	0.81[ASN][1000 genomes]
rs73131120	0.96[ASN][1000 genomes]
rs733629	0.94[ASN][1000 genomes]
rs746049	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487948	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754398	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs755221	0.89[ASN][1000 genomes]
rs7956166	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961920	0.90[ASN][1000 genomes]
rs7962771	0.81[ASN][1000 genomes]
rs7969312	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972615	0.95[ASN][1000 genomes]
rs901068	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv1043846	chr12:57323709-57377509	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv12940	chr12:57331182-57379580	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv1051116	chr12:57331370-57380365	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv10544	chr12:57331527-57352203	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv559019	chr12:57331741-57377509	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv899108	chr12:57331741-57377509	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv899109	chr12:57331741-57381259	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv436148	chr12:57331980-57377764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3394817	chr12:57334133-57378642	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS 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	10 gene(s)	inside rSNPs	diseases
12	nsv512276	chr12:57334563-57379261	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3387082	chr12:57334915-57379407	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv975650	chr12:57335427-57376693	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv2760274	chr12:57335481-57377509	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv2761077	chr12:57335481-57377509	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	nsv973962	chr12:57335927-57377803	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	nsv533666	chr12:57336297-57374437	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv559020	chr12:57338716-57351562	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	esv3693122	chr12:57338716-57369910	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv559021	chr12:57338716-57381259	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
23	nsv516039	chr12:57342188-57377509	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
24	esv13560	chr12:57344349-57352033	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57336400-57351000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:57345800-57350400	Weak transcription	Ovary	ovary
3	chr12:57346000-57354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:57346600-57350400	Weak transcription	Aorta	Aorta
5	chr12:57348400-57350000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:57348600-57350000	Enhancers	Spleen	Spleen
7	chr12:57349000-57350200	Enhancers	A549	lung
8	chr12:57349000-57350800	Enhancers	HepG2	liver
9	chr12:57349000-57352000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:57349200-57351800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:57349200-57352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:57349400-57351400	Active TSS	Liver	Liver
13	chr12:57349400-57352600	Enhancers	Esophagus	oesophagus
14	chr12:57349600-57350600	Weak transcription	HMEC	breast
15	chr12:57349800-57350200	Weak transcription	NHEK	skin

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