Variant report

Variant	rs73712063
Chromosome Location	chr7:100743657-100743658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100742551..100745856-chr7:100780456..100782799,3	MCF-7	breast:
2	chr7:100741030..100743914-chr7:100780572..100782381,3	K562	blood:
3	chr7:100742716..100745205-chr7:100768993..100771932,2	K562	blood:
4	chr7:100742030..100745253-chr7:100746544..100749068,3	MCF-7	breast:
5	chr7:100743492..100745258-chr7:100823374..100825550,2	K562	blood:
6	chr7:100743340..100745183-chr7:100770158..100771716,2	MCF-7	breast:
7	chr7:100743340..100745457-chr7:100777578..100780413,3	MCF-7	breast:
8	chr7:100738686..100741572-chr7:100742111..100744003,4	MCF-7	breast:
9	chr7:100742836..100744015-chr7:100835535..100836428,3	K562	blood:
10	chr7:100741837..100746865-chr7:100749791..100753773,5	MCF-7	breast:
11	chr7:100742866..100743779-chr7:100781576..100782208,2	MCF-7	breast:
12	chr7:100743496..100745503-chr7:100745542..100749053,3	K562	blood:
13	chr7:100741507..100743688-chr7:100752212..100754188,2	K562	blood:
14	chr7:100742417..100744722-chr7:100805972..100808524,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167011	Chromatin interaction
ENSG00000106366	Chromatin interaction
ENSG00000128564	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230363	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238656	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11546152	1.00[ASN][1000 genomes]
rs2227666	1.00[ASN][1000 genomes]
rs28693845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158981	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61520366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730716	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730718	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241	1.00[ASN][1000 genomes]
rs73712067	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv5874	chr7:100734048-100744472	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
19	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
2	chr7:100735000-100743800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:100736200-100745000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100738000-100745600	Enhancers	NHDF-Ad	bronchial
5	chr7:100741600-100744400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:100741600-100748600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:100741800-100743800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100741800-100743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:100742200-100743800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:100742200-100744400	Enhancers	Ovary	ovary
11	chr7:100742200-100744400	Enhancers	Right Ventricle	heart
12	chr7:100742200-100745200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:100742200-100745200	Enhancers	HMEC	breast
14	chr7:100742200-100746200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:100742400-100743800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:100742400-100743800	Enhancers	HSMM	muscle
17	chr7:100742400-100743800	Enhancers	NHEK	skin
18	chr7:100742400-100744000	Enhancers	Left Ventricle	heart
19	chr7:100742400-100744400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:100742400-100744400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:100742400-100744400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:100742400-100744400	Enhancers	Psoas Muscle	Psoas
23	chr7:100742400-100744600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:100742400-100745600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:100742400-100745600	Enhancers	HUVEC	blood vessel
26	chr7:100742400-100745600	Enhancers	NH-A	brain
27	chr7:100742400-100745600	Enhancers	NHLF	lung
28	chr7:100742400-100749200	Enhancers	Placenta	Placenta
29	chr7:100742600-100743800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:100742600-100743800	Enhancers	HSMMtube	muscle
31	chr7:100742600-100743800	Enhancers	Osteobl	bone
32	chr7:100742600-100744200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:100742600-100744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:100742600-100744400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:100742600-100744400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:100742600-100744600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:100742600-100745200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:100742600-100745400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:100742600-100745600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:100742600-100745600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:100742600-100745600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:100742800-100744000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:100742800-100744200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:100742800-100744200	Enhancers	Brain Anterior Caudate	brain
45	chr7:100742800-100744200	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:100742800-100744200	Enhancers	Colon Smooth Muscle	Colon
47	chr7:100742800-100745600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:100743000-100744000	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:100743000-100744000	Enhancers	Stomach Mucosa	stomach
50	chr7:100743000-100744200	Enhancers	Lung	lung

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