Variant report

Variant	rs73409513
Chromosome Location	chr7:99541717-99541718
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99536487..99537988-chr7:99540630..99543406,2	K562	blood:
2	chr7:99535893..99538781-chr7:99539632..99543406,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17161888	1.00[AMR][1000 genomes]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73393662	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv607930	chr7:99525241-99602191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv888772	chr7:99533178-99602191	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99532400-99548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:99541000-99541800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:99541000-99542000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:99541000-99542000	Enhancers	HepG2	liver
5	chr7:99541000-99542200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:99541000-99542800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:99541000-99543200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99541200-99541800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr7:99541200-99541800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:99541200-99542000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:99541200-99542400	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:99541400-99541800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:99541400-99541800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:99541400-99541800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:99541400-99541800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr7:99541400-99541800	Enhancers	Brain Hippocampus Middle	brain
17	chr7:99541400-99542000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:99541400-99542000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:99541400-99542000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:99541400-99542000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:99541400-99542200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:99541400-99542200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:99541400-99542600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr7:99541600-99541800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:99541600-99541800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:99541600-99541800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:99541600-99541800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:99541600-99541800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:99541600-99541800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr7:99541600-99541800	Enhancers	Right Atrium	heart
31	chr7:99541600-99541800	Enhancers	GM12878-XiMat	blood
32	chr7:99541600-99542000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:99541600-99542000	Bivalent Enhancer	Primary T cells from cord blood	blood
34	chr7:99541600-99542000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:99541600-99542000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:99541600-99542200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:99541600-99542200	Enhancers	Brain Substantia Nigra	brain
38	chr7:99541600-99542200	Enhancers	Spleen	Spleen
39	chr7:99541600-99542600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:99541600-99542600	Enhancers	Primary B cells from cord blood	blood

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