Variant report

Variant	rs28473538
Chromosome Location	chr7:152560452-152560453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:152557682..152560578-chr7:152560723..152562982,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10230043	1.00[EUR][1000 genomes]
rs10235710	1.00[EUR][1000 genomes]
rs10251947	1.00[EUR][1000 genomes]
rs10255755	1.00[EUR][1000 genomes]
rs10255903	1.00[EUR][1000 genomes]
rs10259422	1.00[EUR][1000 genomes]
rs10259642	0.87[AMR][1000 genomes]
rs10259830	0.87[AMR][1000 genomes]
rs57449728	0.92[EUR][1000 genomes]
rs58836438	0.92[EUR][1000 genomes]
rs60610086	0.92[EUR][1000 genomes]
rs61646248	0.92[EUR][1000 genomes]
rs73490987	1.00[EUR][1000 genomes]
rs73493112	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv889506	chr7:152521953-152631037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1019335	chr7:152546243-152676615	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv539209	chr7:152546243-152676615	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv508491	chr7:152558615-152588232	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:152527600-152564800	Weak transcription	A549	lung
4	chr7:152539200-152563800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:152540600-152560600	Weak transcription	HepG2	liver
6	chr7:152541000-152563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:152541000-152568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:152544600-152561600	Weak transcription	Fetal Kidney	kidney
9	chr7:152547200-152563600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:152548200-152562600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:152548400-152564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:152550000-152566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:152550800-152560600	Weak transcription	Fetal Intestine Large	intestine
14	chr7:152550800-152563600	Weak transcription	Thymus	Thymus
15	chr7:152551800-152560800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:152551800-152564000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:152551800-152566600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:152552000-152562000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:152552000-152562200	Weak transcription	Pancreas	Pancrea
20	chr7:152552000-152562400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:152552000-152562600	Weak transcription	Aorta	Aorta
22	chr7:152552000-152564000	Weak transcription	Ovary	ovary
23	chr7:152552000-152564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:152552000-152565600	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:152552000-152566400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:152552000-152566400	Weak transcription	Fetal Brain Female	brain
27	chr7:152552200-152565800	Weak transcription	HSMMtube	muscle
28	chr7:152552600-152562800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:152552600-152564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:152553600-152564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:152553600-152564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:152553600-152567000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:152553800-152560800	Weak transcription	Adipose Nuclei	Adipose
34	chr7:152553800-152562200	Weak transcription	Gastric	stomach
35	chr7:152553800-152562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:152553800-152564800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:152553800-152565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:152553800-152565800	Weak transcription	Esophagus	oesophagus
39	chr7:152553800-152566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:152553800-152568000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:152553800-152568400	Weak transcription	Left Ventricle	heart
42	chr7:152553800-152569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:152553800-152569400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:152554000-152560600	Weak transcription	Liver	Liver
45	chr7:152554200-152571000	Weak transcription	Fetal Stomach	stomach
46	chr7:152554400-152562000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:152554600-152563800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:152554600-152564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:152554600-152569200	Weak transcription	Right Ventricle	heart
50	chr7:152554800-152566000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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