Variant report

Variant	rs56294271
Chromosome Location	chr7:4114817-4114818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1004043	0.88[ASN][1000 genomes]
rs10226642	1.00[ASN][1000 genomes]
rs10229207	0.88[ASN][1000 genomes]
rs10234405	0.88[ASN][1000 genomes]
rs10235315	0.88[ASN][1000 genomes]
rs10236620	0.88[ASN][1000 genomes]
rs10237488	0.88[ASN][1000 genomes]
rs10237838	0.88[ASN][1000 genomes]
rs10237842	0.88[ASN][1000 genomes]
rs10237956	0.88[ASN][1000 genomes]
rs10244597	0.88[ASN][1000 genomes]
rs10251829	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10253393	0.88[ASN][1000 genomes]
rs10255116	0.88[ASN][1000 genomes]
rs10259751	0.88[ASN][1000 genomes]
rs10259896	0.88[ASN][1000 genomes]
rs10262417	1.00[ASN][1000 genomes]
rs10263906	0.85[ASN][1000 genomes]
rs10265219	0.88[ASN][1000 genomes]
rs10265937	0.88[ASN][1000 genomes]
rs10266101	0.88[ASN][1000 genomes]
rs10270404	1.00[ASN][1000 genomes]
rs10278187	0.88[ASN][1000 genomes]
rs11975100	0.88[ASN][1000 genomes]
rs11975109	0.88[ASN][1000 genomes]
rs11976085	0.97[ASN][1000 genomes]
rs11978101	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155028	0.88[ASN][1000 genomes]
rs12155317	0.88[ASN][1000 genomes]
rs12386617	0.85[ASN][1000 genomes]
rs12701386	0.84[EUR][1000 genomes]
rs13223359	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229520	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13241881	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443647	0.88[ASN][1000 genomes]
rs1562005	0.88[ASN][1000 genomes]
rs17134196	0.85[ASN][1000 genomes]
rs17134197	0.85[ASN][1000 genomes]
rs17134314	1.00[ASN][1000 genomes]
rs1807027	0.94[ASN][1000 genomes]
rs2342489	0.88[ASN][1000 genomes]
rs2342490	0.88[ASN][1000 genomes]
rs2342491	0.88[ASN][1000 genomes]
rs2342492	0.88[ASN][1000 genomes]
rs2342493	0.88[ASN][1000 genomes]
rs2342496	0.91[ASN][1000 genomes]
rs28634483	0.88[ASN][1000 genomes]
rs2880371	0.88[ASN][1000 genomes]
rs28828193	0.88[ASN][1000 genomes]
rs34176245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34241728	0.88[ASN][1000 genomes]
rs34656116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34786362	0.88[ASN][1000 genomes]
rs4295561	0.88[ASN][1000 genomes]
rs4391327	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526263	0.88[ASN][1000 genomes]
rs55808604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961125	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56249161	0.83[EUR][1000 genomes]
rs57367972	0.85[ASN][1000 genomes]
rs58608919	1.00[ASN][1000 genomes]
rs58704629	1.00[ASN][1000 genomes]
rs60977750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462541	0.88[ASN][1000 genomes]
rs6462542	0.88[ASN][1000 genomes]
rs6462543	0.88[ASN][1000 genomes]
rs6462545	0.88[ASN][1000 genomes]
rs6462546	0.88[ASN][1000 genomes]
rs6462548	0.88[ASN][1000 genomes]
rs6462549	0.88[ASN][1000 genomes]
rs6462550	0.88[ASN][1000 genomes]
rs6462558	0.88[ASN][1000 genomes]
rs6462564	0.91[ASN][1000 genomes]
rs6462575	1.00[ASN][1000 genomes]
rs6462576	1.00[ASN][1000 genomes]
rs6462577	0.97[ASN][1000 genomes]
rs66731402	0.88[ASN][1000 genomes]
rs67819387	0.88[ASN][1000 genomes]
rs67820803	0.88[ASN][1000 genomes]
rs68189920	0.88[ASN][1000 genomes]
rs6946871	0.88[ASN][1000 genomes]
rs6950754	0.88[ASN][1000 genomes]
rs6953284	0.88[ASN][1000 genomes]
rs6953630	0.88[ASN][1000 genomes]
rs6954175	0.88[ASN][1000 genomes]
rs6958964	0.94[ASN][1000 genomes]
rs6971090	1.00[ASN][1000 genomes]
rs6977489	0.88[ASN][1000 genomes]
rs71527466	0.85[ASN][1000 genomes]
rs7783519	0.88[ASN][1000 genomes]
rs7784928	0.92[ASN][1000 genomes]
rs7789457	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789676	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790866	0.88[ASN][1000 genomes]
rs7791013	0.88[ASN][1000 genomes]
rs7791029	0.88[ASN][1000 genomes]
rs7791174	0.88[ASN][1000 genomes]
rs7791801	0.88[ASN][1000 genomes]
rs7797081	0.88[ASN][1000 genomes]
rs7797437	1.00[ASN][1000 genomes]
rs7801112	0.91[ASN][1000 genomes]
rs7801816	0.97[ASN][1000 genomes]
rs7801852	1.00[ASN][1000 genomes]
rs7801978	1.00[ASN][1000 genomes]
rs7802663	1.00[ASN][1000 genomes]
rs7803030	0.88[ASN][1000 genomes]
rs7803897	0.88[ASN][1000 genomes]
rs7805933	0.88[ASN][1000 genomes]
rs7806125	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807206	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807325	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807506	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809492	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810949	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
19	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
20	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
21	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
22	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
23	nsv1018462	chr7:4097676-4173613	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1016507	chr7:4105420-4255439	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	1 gene(s)	inside rSNPs	diseases
25	nsv538691	chr7:4105420-4255439	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4088800-4129400	Weak transcription	Right Ventricle	heart
2	chr7:4096000-4116400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:4103000-4125600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4104800-4116400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:4105200-4117000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:4105200-4120200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:4106600-4117000	Weak transcription	Fetal Brain Female	brain
8	chr7:4107800-4120200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:4109200-4116200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:4109200-4118200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:4109600-4122000	Weak transcription	Esophagus	oesophagus
12	chr7:4109800-4116200	Weak transcription	Spleen	Spleen
13	chr7:4110200-4116200	Weak transcription	Pancreas	Pancrea
14	chr7:4110200-4116400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:4110200-4118400	Weak transcription	Gastric	stomach
16	chr7:4110200-4129400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:4110600-4116200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:4111400-4119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:4111600-4116200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4112000-4116600	Weak transcription	Fetal Stomach	stomach
21	chr7:4112200-4116400	Weak transcription	Fetal Lung	lung
22	chr7:4112400-4116400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:4112400-4116400	Weak transcription	Aorta	Aorta
24	chr7:4112400-4130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:4112600-4119600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:4113000-4118000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:4113800-4120800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:4114200-4116400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:4114200-4118600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:4114800-4115000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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