Variant report

Variant	rs73049007
Chromosome Location	chr7:5602080-5602081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
2	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
3	chr7:5462745..5465078-chr7:5600446..5602403,2	MCF-7	breast:
4	chr7:5463794..5465765-chr7:5601700..5603411,2	MCF-7	breast:
5	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:
6	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:
7	chr7:5531499..5540573-chr7:5594200..5602257,20	MCF-7	breast:
8	chr7:5467506..5469291-chr7:5600592..5602270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000272953	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2080065	0.83[ASN][1000 genomes]
rs2080066	0.83[ASN][1000 genomes]
rs2098225	0.83[ASN][1000 genomes]
rs4724709	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56114241	0.83[ASN][1000 genomes]
rs73047183	0.83[ASN][1000 genomes]
rs73047193	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049003	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049011	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049012	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049016	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73049019	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73052777	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription 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 miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
10	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
11	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
13	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
14	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
15	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
16	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
17	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
18	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
20	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5601400-5602200	Flanking Active TSS	K562	blood
2	chr7:5601400-5602800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:5601400-5603400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:5601400-5603400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:5601600-5602200	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr7:5601600-5602200	Flanking Active TSS	NHLF	lung
7	chr7:5601600-5602400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:5601600-5602400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:5601600-5602400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:5601600-5602400	Flanking Active TSS	Pancreas	Pancrea
11	chr7:5601600-5602600	Active TSS	Brain Germinal Matrix	brain
12	chr7:5601600-5602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:5601600-5602800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:5601600-5602800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:5601600-5602800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:5601600-5602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:5601600-5602800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr7:5601600-5602800	Active TSS	Fetal Brain Female	brain
19	chr7:5601600-5602800	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr7:5601600-5602800	Active TSS	A549	lung
21	chr7:5601600-5603200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:5601600-5603200	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:5601600-5603400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:5601600-5603400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:5601600-5603400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:5601600-5603400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr7:5601600-5603400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:5601600-5603400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:5601600-5603400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr7:5601600-5603400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:5601600-5603400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr7:5601600-5603400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr7:5601600-5603400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr7:5601600-5603400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:5601600-5603400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:5601600-5603400	Flanking Active TSS	HMEC	breast
37	chr7:5601600-5603600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:5601600-5603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:5601600-5603600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:5601600-5603600	Flanking Active TSS	NHEK	skin
41	chr7:5601800-5602200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr7:5601800-5602200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:5601800-5602200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:5601800-5602200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:5601800-5602200	Active TSS	Aorta	Aorta
46	chr7:5601800-5602200	Flanking Active TSS	Fetal Heart	heart
47	chr7:5601800-5602200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr7:5601800-5602200	Flanking Active TSS	Gastric	stomach
49	chr7:5601800-5602200	Flanking Active TSS	Ovary	ovary
50	chr7:5601800-5602200	Flanking Active TSS	Psoas Muscle	Psoas

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