Variant report

Variant	rs28378079
Chromosome Location	chr7:100736308-100736309
allele	A/T
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	NR2F2	chr7:100736210-100736535	K562	blood:	n/a	n/a
2	NR3C1	chr7:100736221-100736586	A549	lung:	n/a	n/a
3	NR2F2	chr7:100736108-100736759	K562	blood:	n/a	n/a
4	NR3C1	chr7:100736197-100736603	A549	lung:	n/a	n/a
5	MAX	chr7:100736254-100736480	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100486587..100489014-chr7:100735698..100737931,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260336	TF binding region
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10275377	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28592167	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968925	1.00[ASN][1000 genomes]
rs6968930	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100729400-100737800	Weak transcription	Small Intestine	intestine
2	chr7:100729400-100742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:100729400-100742600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:100729400-100742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:100729400-100742800	Weak transcription	Brain Substantia Nigra	brain
6	chr7:100729600-100736600	Weak transcription	NH-A	brain
7	chr7:100729600-100742800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:100730400-100738000	Weak transcription	HepG2	liver
9	chr7:100730400-100742600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:100730600-100737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:100730600-100737200	Weak transcription	HUVEC	blood vessel
12	chr7:100730600-100737800	Weak transcription	K562	blood
13	chr7:100730600-100742800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:100730600-100742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:100730800-100738000	Weak transcription	Stomach Mucosa	stomach
16	chr7:100730800-100743200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:100731200-100736600	Weak transcription	HMEC	breast
18	chr7:100731200-100742800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:100732400-100737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:100732400-100742800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:100732400-100743000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:100732600-100742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:100732600-100742400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:100732600-100742600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:100732800-100742800	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:100733000-100736600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:100733000-100736600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:100733000-100737200	Weak transcription	A549	lung
29	chr7:100733000-100737800	Weak transcription	Psoas Muscle	Psoas
30	chr7:100733000-100741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:100733000-100742600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:100733000-100743400	Weak transcription	Right Atrium	heart
33	chr7:100733000-100743400	Weak transcription	GM12878-XiMat	blood
34	chr7:100733000-100743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:100733000-100743600	Weak transcription	Gastric	stomach
36	chr7:100733200-100742400	Weak transcription	Left Ventricle	heart
37	chr7:100733400-100737000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:100733400-100737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:100733400-100742600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:100733400-100742800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:100733400-100743200	Weak transcription	Pancreas	Pancrea
42	chr7:100733400-100743600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:100733400-100743600	Weak transcription	Esophagus	oesophagus
44	chr7:100733400-100743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:100733600-100736600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:100733600-100736600	Weak transcription	HSMMtube	muscle
47	chr7:100733600-100736600	Weak transcription	NHEK	skin
48	chr7:100733600-100736800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100733600-100736800	Weak transcription	HSMM	muscle
50	chr7:100733600-100737200	Weak transcription	Placenta Amnion	Placenta Amnion

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