Variant report

Variant	rs4307027
Chromosome Location	chr4:69921894-69921895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10006452	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249521	0.82[EUR][1000 genomes]
rs11249522	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11249523	0.82[EUR][1000 genomes]
rs11249524	0.82[EUR][1000 genomes]
rs11249526	0.82[EUR][1000 genomes]
rs11249527	0.82[EUR][1000 genomes]
rs11249528	0.82[EUR][1000 genomes]
rs11931182	0.84[EUR][1000 genomes]
rs11932131	0.82[EUR][1000 genomes]
rs11934762	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11935886	0.80[EUR][1000 genomes]
rs11940220	0.81[EUR][1000 genomes]
rs11940316	0.80[EUR][1000 genomes]
rs12506962	0.81[EUR][1000 genomes]
rs12508257	0.81[EUR][1000 genomes]
rs12512526	0.81[EUR][1000 genomes]
rs12513195	0.81[EUR][1000 genomes]
rs12642938	0.81[EUR][1000 genomes]
rs12643840	0.82[EUR][1000 genomes]
rs12646327	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12647434	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12647681	0.81[EUR][1000 genomes]
rs12647682	0.81[EUR][1000 genomes]
rs28375964	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28712409	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34318523	0.81[EUR][1000 genomes]
rs34386959	0.81[EUR][1000 genomes]
rs34630750	0.81[EUR][1000 genomes]
rs35297888	0.82[EUR][1000 genomes]
rs3924192	0.81[EUR][1000 genomes]
rs4131317	0.82[EUR][1000 genomes]
rs4273534	0.82[EUR][1000 genomes]
rs4293848	0.81[EUR][1000 genomes]
rs4309908	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4314345	0.80[EUR][1000 genomes]
rs4337789	0.81[EUR][1000 genomes]
rs4351080	0.81[EUR][1000 genomes]
rs4356974	0.81[EUR][1000 genomes]
rs4364327	0.80[EUR][1000 genomes]
rs4371687	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4371688	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4443355	0.82[EUR][1000 genomes]
rs4446391	0.81[EUR][1000 genomes]
rs4454000	0.82[EUR][1000 genomes]
rs4455491	0.81[EUR][1000 genomes]
rs4458521	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4478248	0.82[EUR][1000 genomes]
rs4516790	0.96[ASN][1000 genomes]
rs4521414	0.80[EUR][1000 genomes]
rs4522933	0.82[EUR][1000 genomes]
rs4540108	0.82[EUR][1000 genomes]
rs4541594	0.81[EUR][1000 genomes]
rs4554144	0.81[EUR][1000 genomes]
rs4587017	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4588522	0.80[EUR][1000 genomes]
rs4632729	0.82[EUR][1000 genomes]
rs4640729	0.82[EUR][1000 genomes]
rs4642304	0.82[EUR][1000 genomes]
rs4694169	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4694171	0.82[EUR][1000 genomes]
rs4694591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694596	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4694603	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5013211	0.81[EUR][1000 genomes]
rs55757747	0.82[EUR][1000 genomes]
rs55834557	0.81[EUR][1000 genomes]
rs56217918	0.82[EUR][1000 genomes]
rs56388229	0.80[EUR][1000 genomes]
rs57216626	0.80[EUR][1000 genomes]
rs58544196	0.81[EUR][1000 genomes]
rs59415892	0.81[EUR][1000 genomes]
rs62296922	0.82[EUR][1000 genomes]
rs62296935	0.82[EUR][1000 genomes]
rs62296936	0.82[EUR][1000 genomes]
rs62296942	0.81[EUR][1000 genomes]
rs62296943	0.81[EUR][1000 genomes]
rs62296944	0.81[EUR][1000 genomes]
rs6422323	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6422324	0.82[EUR][1000 genomes]
rs6422325	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6600866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6600874	0.82[EUR][1000 genomes]
rs6600875	0.82[EUR][1000 genomes]
rs6600876	0.82[EUR][1000 genomes]
rs6600877	0.82[EUR][1000 genomes]
rs6600878	0.81[EUR][1000 genomes]
rs6600879	0.81[EUR][1000 genomes]
rs6600880	0.81[EUR][1000 genomes]
rs6600883	0.81[EUR][1000 genomes]
rs6600884	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6600885	0.81[EUR][1000 genomes]
rs6600886	0.81[EUR][1000 genomes]
rs6600887	0.81[EUR][1000 genomes]
rs6600888	0.81[EUR][1000 genomes]
rs6600890	0.81[EUR][1000 genomes]
rs6600891	0.81[EUR][1000 genomes]
rs6820734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6830368	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6843382	0.82[EUR][1000 genomes]
rs6846298	0.82[EUR][1000 genomes]
rs6851282	0.82[EUR][1000 genomes]
rs6858558	0.81[EUR][1000 genomes]
rs7375178	0.81[EUR][1000 genomes]
rs7434332	0.81[EUR][1000 genomes]
rs7437039	0.81[EUR][1000 genomes]
rs7437174	0.82[EUR][1000 genomes]
rs7438135	0.81[EUR][1000 genomes]
rs7438244	0.81[EUR][1000 genomes]
rs7439098	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7439152	0.81[EUR][1000 genomes]
rs7439326	0.81[EUR][1000 genomes]
rs7439792	0.81[EUR][1000 genomes]
rs7441750	0.80[EUR][1000 genomes]
rs7441774	0.81[EUR][1000 genomes]
rs7442453	0.81[EUR][1000 genomes]
rs7442486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657423	0.81[EUR][1000 genomes]
rs7659306	0.82[EUR][1000 genomes]
rs7662029	0.81[EUR][1000 genomes]
rs7663584	0.82[EUR][1000 genomes]
rs7668258	0.81[EUR][1000 genomes]
rs7674851	0.82[EUR][1000 genomes]
rs7676472	0.82[EUR][1000 genomes]
rs7677611	0.82[EUR][1000 genomes]
rs7678656	0.81[EUR][1000 genomes]
rs7679184	0.81[EUR][1000 genomes]
rs7679550	0.82[EUR][1000 genomes]
rs7680709	0.82[EUR][1000 genomes]
rs7681790	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7698645	0.81[EUR][1000 genomes]
rs7698846	0.81[EUR][1000 genomes]
rs7699711	0.82[EUR][1000 genomes]
rs7699955	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9999076	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69917400-69922800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:69917600-69922800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:69917600-69923000	Weak transcription	GM12878-XiMat	blood
4	chr4:69917600-69923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:69918000-69922000	Weak transcription	Liver	Liver
6	chr4:69918000-69922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:69918200-69922800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:69918800-69922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:69919400-69922800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:69919400-69923000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:69919400-69923200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:69919600-69922800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:69919600-69922800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:69919600-69923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:69919600-69924000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:69920600-69923000	Weak transcription	Fetal Kidney	kidney
17	chr4:69920600-69923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:69920600-69923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:69920600-69923400	Weak transcription	Pancreas	Pancrea
20	chr4:69920800-69923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:69921200-69922800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:69921200-69922800	Weak transcription	HSMM	muscle
23	chr4:69921200-69923400	Weak transcription	Stomach Mucosa	stomach
24	chr4:69921400-69922800	Weak transcription	HSMMtube	muscle
25	chr4:69921400-69923000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:69921400-69923200	Weak transcription	Osteobl	bone
27	chr4:69921600-69922800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:69921800-69922200	Enhancers	HepG2	liver
29	chr4:69921800-69922800	Enhancers	Cortex derived primary cultured neurospheres	brain

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