Variant report

Variant	rs10305851
Chromosome Location	chr4:148403629-148403630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:148403331-148403879	MCF10A-Er-Src	breast:	n/a	chr4:148403388-148403395
2	STAT3	chr4:148403359-148403876	MCF10A-Er-Src	breast:	n/a	chr4:148403659-148403668 chr4:148403656-148403670 chr4:148403657-148403668 chr4:148403658-148403667 chr4:148403653-148403673
3	FOS	chr4:148403363-148403836	MCF10A-Er-Src	breast:	n/a	chr4:148403388-148403395
4	STAT3	chr4:148403196-148403886	MCF10A-Er-Src	breast:	n/a	chr4:148403659-148403668 chr4:148403656-148403670 chr4:148403657-148403668 chr4:148403658-148403667 chr4:148403653-148403673
5	STAT3	chr4:148403183-148403886	MCF10A-Er-Src	breast:	n/a	chr4:148403659-148403668 chr4:148403656-148403670 chr4:148403657-148403668 chr4:148403658-148403667 chr4:148403653-148403673
6	FOS	chr4:148403503-148403755	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr4:148403520-148403824	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr4:148403413-148403901	MCF10A-Er-Src	breast:	n/a	chr4:148403659-148403668 chr4:148403656-148403670 chr4:148403657-148403668 chr4:148403658-148403667 chr4:148403653-148403673
9	STAT3	chr4:148403544-148403749	MCF10A-Er-Src	breast:	n/a	chr4:148403659-148403668 chr4:148403656-148403670 chr4:148403657-148403668 chr4:148403658-148403667 chr4:148403653-148403673
10	FOS	chr4:148403274-148403880	MCF10A-Er-Src	breast:	n/a	chr4:148403388-148403395

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148398530..148400390-chr4:148402721..148404279,2	MCF-7	breast:
2	chr4:148400285..148404582-chr4:148404756..148408817,4	K562	blood:

Variant related genes	Relation type
EDNRA	TF binding region
ENSG00000151617	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10305845	1.00[AMR][1000 genomes]
rs10305848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305853	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305859	1.00[AMR][1000 genomes]
rs10305869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305885	1.00[AMR][1000 genomes]
rs11930745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11930820	1.00[AMR][1000 genomes]
rs11933442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937200	1.00[AMR][1000 genomes]
rs11941665	1.00[AMR][1000 genomes]
rs11942203	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11942234	1.00[AMR][1000 genomes]
rs11942855	1.00[AMR][1000 genomes]
rs11944922	1.00[AMR][1000 genomes]
rs11946826	1.00[AMR][1000 genomes]
rs11947440	1.00[AMR][1000 genomes]
rs1400555	1.00[AMR][1000 genomes]
rs1517135	1.00[GIH][hapmap]
rs17023371	1.00[GIH][hapmap];0.91[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023373	1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56787274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57268018	1.00[AMR][1000 genomes]
rs57342589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57772875	1.00[AMR][1000 genomes]
rs58576007	1.00[AMR][1000 genomes]
rs58791171	1.00[AMR][1000 genomes]
rs58824158	1.00[AMR][1000 genomes]
rs59458570	1.00[AMR][1000 genomes]
rs60433830	1.00[AMR][1000 genomes]
rs6818686	1.00[AMR][1000 genomes]
rs6825558	1.00[AMR][1000 genomes]
rs72953564	1.00[AMR][1000 genomes]
rs72953576	1.00[AMR][1000 genomes]
rs72953582	1.00[AMR][1000 genomes]
rs72953588	1.00[AMR][1000 genomes]
rs72953589	1.00[AMR][1000 genomes]
rs72955634	1.00[AMR][1000 genomes]
rs72955654	1.00[AMR][1000 genomes]
rs72955655	1.00[AMR][1000 genomes]
rs72955684	1.00[AMR][1000 genomes]
rs72955687	1.00[AMR][1000 genomes]
rs72959547	1.00[AMR][1000 genomes]
rs72959554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959579	1.00[AMR][1000 genomes]
rs72959582	1.00[AMR][1000 genomes]
rs72961617	1.00[AMR][1000 genomes]
rs72961622	1.00[AMR][1000 genomes]
rs7660300	1.00[AMR][1000 genomes]
rs7684691	1.00[AMR][1000 genomes]
rs7684717	1.00[AMR][1000 genomes]
rs7684882	1.00[AMR][1000 genomes]
rs7685896	1.00[AMR][1000 genomes]
rs7685925	1.00[AMR][1000 genomes]
rs7686338	1.00[AMR][1000 genomes]
rs7686739	1.00[AMR][1000 genomes]
rs9999853	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148401200-148404000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:148401400-148404400	Active TSS	Right Ventricle	heart
3	chr4:148401400-148404600	Active TSS	Fetal Kidney	kidney
4	chr4:148401800-148404000	Bivalent/Poised TSS	Fetal Thymus	thymus
5	chr4:148401800-148404200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:148401800-148404200	Active TSS	Left Ventricle	heart
7	chr4:148401800-148404400	Active TSS	Ovary	ovary
8	chr4:148401800-148404600	Active TSS	Right Atrium	heart
9	chr4:148402000-148403800	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr4:148402000-148403800	Active TSS	HSMMtube	muscle
11	chr4:148402000-148404000	Active TSS	Fetal Heart	heart
12	chr4:148402000-148404600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:148402400-148404200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:148402600-148403800	Flanking Active TSS	NHEK	skin
15	chr4:148402600-148404000	Flanking Active TSS	HMEC	breast
16	chr4:148402800-148403800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:148402800-148404000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr4:148402800-148404000	Flanking Active TSS	NHLF	lung
19	chr4:148402800-148404200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:148402800-148404400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:148403000-148404000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
22	chr4:148403000-148404200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:148403000-148404200	Active TSS	Fetal Stomach	stomach
24	chr4:148403000-148404400	Flanking Active TSS	NH-A	brain
25	chr4:148403000-148405600	Weak transcription	Spleen	Spleen
26	chr4:148403200-148403800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:148403200-148404000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr4:148403200-148404000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr4:148403200-148404000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:148403200-148404000	Bivalent/Poised TSS	Fetal Brain Male	brain
31	chr4:148403200-148404000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr4:148403200-148404000	Weak transcription	Lung	lung
33	chr4:148403200-148404200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:148403200-148404200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:148403200-148404200	Active TSS	Gastric	stomach
36	chr4:148403200-148404200	Enhancers	Osteobl	bone
37	chr4:148403200-148404400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:148403200-148404400	Active TSS	Fetal Muscle Trunk	muscle
39	chr4:148403400-148403800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr4:148403400-148403800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr4:148403400-148403800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:148403400-148403800	Enhancers	Aorta	Aorta
43	chr4:148403400-148404000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr4:148403400-148404000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr4:148403400-148404000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148403400-148404200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr4:148403400-148404200	Active TSS	Adipose Nuclei	Adipose
48	chr4:148403400-148404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:148403400-148404400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr4:148403600-148404000	Flanking Active TSS	Fetal Lung	lung

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