Variant report

Variant	rs12701363
Chromosome Location	chr7:4091816-4091817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
2	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10226642	0.89[EUR][1000 genomes]
rs10228678	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229207	0.80[ASN][1000 genomes]
rs10231929	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234405	0.80[ASN][1000 genomes]
rs10235315	0.80[ASN][1000 genomes]
rs10236620	0.80[ASN][1000 genomes]
rs10237319	1.00[ASN][1000 genomes]
rs10237488	0.80[ASN][1000 genomes]
rs10237838	0.80[ASN][1000 genomes]
rs10237842	0.80[ASN][1000 genomes]
rs10237956	0.80[ASN][1000 genomes]
rs10244597	0.80[ASN][1000 genomes]
rs10253213	1.00[ASN][1000 genomes]
rs10253393	0.80[ASN][1000 genomes]
rs10254902	1.00[ASN][1000 genomes]
rs10255116	0.80[ASN][1000 genomes]
rs10259751	0.80[ASN][1000 genomes]
rs10259896	0.80[ASN][1000 genomes]
rs10265219	0.80[ASN][1000 genomes]
rs10265937	0.80[ASN][1000 genomes]
rs10266101	0.80[ASN][1000 genomes]
rs10278187	0.80[ASN][1000 genomes]
rs10485860	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974413	1.00[ASN][1000 genomes]
rs11975100	0.80[ASN][1000 genomes]
rs11975109	0.80[ASN][1000 genomes]
rs12155028	0.80[ASN][1000 genomes]
rs12155078	1.00[ASN][1000 genomes]
rs12155314	1.00[ASN][1000 genomes]
rs12155317	0.80[ASN][1000 genomes]
rs12155501	1.00[ASN][1000 genomes]
rs12701386	0.93[ASN][1000 genomes]
rs13226987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443647	0.80[ASN][1000 genomes]
rs1562005	0.80[ASN][1000 genomes]
rs1562006	1.00[ASN][1000 genomes]
rs17134314	0.89[EUR][1000 genomes]
rs1807027	0.92[EUR][1000 genomes]
rs2342489	0.80[ASN][1000 genomes]
rs2342490	0.80[ASN][1000 genomes]
rs2342491	0.80[ASN][1000 genomes]
rs2342492	0.80[ASN][1000 genomes]
rs2342493	0.80[ASN][1000 genomes]
rs2342494	1.00[ASN][1000 genomes]
rs2342496	0.91[EUR][1000 genomes]
rs2342497	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2342498	1.00[ASN][1000 genomes]
rs28372090	1.00[ASN][1000 genomes]
rs28458813	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591614	1.00[ASN][1000 genomes]
rs28634483	0.80[ASN][1000 genomes]
rs28692591	1.00[ASN][1000 genomes]
rs2880371	0.80[ASN][1000 genomes]
rs2880372	1.00[ASN][1000 genomes]
rs28828193	0.80[ASN][1000 genomes]
rs28839269	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34241728	0.80[ASN][1000 genomes]
rs34786362	0.80[ASN][1000 genomes]
rs35018186	1.00[ASN][1000 genomes]
rs35261707	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35303581	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35750587	1.00[ASN][1000 genomes]
rs35914968	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295561	0.80[ASN][1000 genomes]
rs4442012	1.00[ASN][1000 genomes]
rs4526263	0.80[ASN][1000 genomes]
rs56249161	0.84[ASN][1000 genomes]
rs56958588	1.00[ASN][1000 genomes]
rs57171458	0.96[ASN][1000 genomes]
rs58608919	0.89[EUR][1000 genomes]
rs58704629	0.89[EUR][1000 genomes]
rs60163833	0.81[ASN][1000 genomes]
rs60562202	1.00[ASN][1000 genomes]
rs6462541	0.80[ASN][1000 genomes]
rs6462542	0.80[ASN][1000 genomes]
rs6462543	0.80[ASN][1000 genomes]
rs6462544	1.00[ASN][1000 genomes]
rs6462545	0.80[ASN][1000 genomes]
rs6462546	0.80[ASN][1000 genomes]
rs6462547	1.00[ASN][1000 genomes]
rs6462548	0.80[ASN][1000 genomes]
rs6462549	0.80[ASN][1000 genomes]
rs6462550	0.80[ASN][1000 genomes]
rs6462551	1.00[ASN][1000 genomes]
rs6462558	0.80[ASN][1000 genomes]
rs6462562	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462570	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462575	0.88[EUR][1000 genomes]
rs6462576	0.88[EUR][1000 genomes]
rs66493879	1.00[ASN][1000 genomes]
rs66731402	0.80[ASN][1000 genomes]
rs66813989	1.00[ASN][1000 genomes]
rs67819387	0.80[ASN][1000 genomes]
rs67820803	0.80[ASN][1000 genomes]
rs68189920	0.80[ASN][1000 genomes]
rs6943539	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946871	0.80[ASN][1000 genomes]
rs6950754	0.80[ASN][1000 genomes]
rs6953114	1.00[ASN][1000 genomes]
rs6953284	0.80[ASN][1000 genomes]
rs6953630	0.80[ASN][1000 genomes]
rs6954175	0.80[ASN][1000 genomes]
rs6957994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958682	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961232	0.90[EUR][1000 genomes]
rs6962042	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970189	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971090	0.89[EUR][1000 genomes]
rs6972327	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976151	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977480	1.00[ASN][1000 genomes]
rs6977489	0.80[ASN][1000 genomes]
rs71527467	1.00[ASN][1000 genomes]
rs71527468	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71535248	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73673280	0.92[ASN][1000 genomes]
rs7779616	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781059	1.00[ASN][1000 genomes]
rs7783519	0.80[ASN][1000 genomes]
rs7784928	0.86[EUR][1000 genomes]
rs7790866	0.80[ASN][1000 genomes]
rs7790918	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7791013	0.80[ASN][1000 genomes]
rs7791029	0.80[ASN][1000 genomes]
rs7791174	0.80[ASN][1000 genomes]
rs7791801	0.80[ASN][1000 genomes]
rs7794939	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797081	0.80[ASN][1000 genomes]
rs7797437	0.89[EUR][1000 genomes]
rs7799331	1.00[ASN][1000 genomes]
rs7801816	0.89[EUR][1000 genomes]
rs7801843	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801978	0.89[EUR][1000 genomes]
rs7802663	0.89[EUR][1000 genomes]
rs7803030	0.80[ASN][1000 genomes]
rs7803897	0.80[ASN][1000 genomes]
rs7804112	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805933	0.80[ASN][1000 genomes]
rs7807487	0.84[ASN][1000 genomes]
rs7810233	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810949	0.80[ASN][1000 genomes]
rs963255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691924	1.00[ASN][1000 genomes]
rs9692219	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking 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	5 gene(s)	inside rSNPs	diseases
10	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv887338	chr7:4054773-4105705	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1022794	chr7:4063874-4137968	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv538689	chr7:4063874-4137968	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1028689	chr7:4078345-4166552	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv538690	chr7:4078345-4166552	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1807382	chr7:4081250-4105936	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1798650	chr7:4081790-4105705	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1800062	chr7:4081790-4105705	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1807573	chr7:4084716-4111112	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3354830	chr7:4089826-4091974	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:4084000-4092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4087400-4096600	Weak transcription	Gastric	stomach
4	chr7:4087600-4111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:4088800-4129400	Weak transcription	Right Ventricle	heart
6	chr7:4090000-4096600	Weak transcription	Fetal Lung	lung
7	chr7:4090400-4092800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:4090600-4092800	Weak transcription	Left Ventricle	heart
9	chr7:4091000-4093200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:4091200-4092000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:4091200-4092000	Strong transcription	Aorta	Aorta
12	chr7:4091200-4093000	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:4091200-4093200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:4091200-4093200	Enhancers	Fetal Muscle Leg	muscle
15	chr7:4091200-4093200	Enhancers	Fetal Stomach	stomach
16	chr7:4091200-4093400	Strong transcription	Pancreas	Pancrea
17	chr7:4091400-4092000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:4091800-4092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4091800-4096200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:4091800-4096200	Weak transcription	Spleen	Spleen

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