Variant report

Variant	rs7198588
Chromosome Location	chr16:77270144-77270145
allele	A/C
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77269656..77270610-chr16:77471829..77472511,2	MCF-7	breast:
2	chr16:77269601..77270543-chr16:78127747..78128804,5	MCF-7	breast:
3	chr16:77269609..77270743-chr16:77617331..77618809,19	MCF-7	breast:
4	chr16:77269675..77270630-chr16:77694031..77695259,6	MCF-7	breast:
5	chr16:77269674..77270537-chr16:77630372..77631796,5	MCF-7	breast:
6	chr16:77269653..77270243-chr16:77410066..77410842,2	MCF-7	breast:
7	chr16:77269710..77270493-chr16:77407930..77408448,2	MCF-7	breast:
8	chr16:77269940..77270623-chr16:77616328..77616995,3	K562	blood:
9	chr16:77269244..77270388-chr16:78133563..78134543,4	MCF-7	breast:
10	chr16:77269847..77270615-chr16:78036552..78037506,3	MCF-7	breast:
11	chr16:77269742..77270569-chr16:77620970..77621576,2	K562	blood:
12	chr16:77269714..77270636-chr16:78005192..78006113,3	MCF-7	breast:
13	chr16:77269587..77270650-chr16:77693914..77694941,6	MCF-7	breast:
14	chr16:77269595..77270510-chr16:78004909..78005878,4	K562	blood:
15	chr16:77269829..77270541-chr16:78156421..78156984,2	MCF-7	breast:
16	chr16:77269442..77270538-chr16:77616365..77617604,8	MCF-7	breast:
17	chr16:77269962..77270537-chr16:77619167..77620058,2	MCF-7	breast:
18	chr16:77269122..77270769-chr16:77617508..77619193,29	K562	blood:
19	chr16:77269705..77270364-chr16:77617639..77618395,2	MCF-7	breast:
20	chr16:77269758..77270518-chr16:77334286..77335046,2	MCF-7	breast:
21	chr16:77269912..77270651-chr16:77440233..77440965,2	MCF-7	breast:
22	chr16:77269648..77270617-chr16:77633407..77634157,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186153	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019565	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11149971	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11544783	0.90[ASN][1000 genomes]
rs11860898	0.82[ASN][1000 genomes]
rs11863718	0.90[ASN][1000 genomes]
rs12931673	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329731	1.00[ASN][1000 genomes]
rs13329816	1.00[ASN][1000 genomes]
rs13330279	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13330367	1.00[ASN][1000 genomes]
rs13332812	1.00[ASN][1000 genomes]
rs13336198	0.90[ASN][1000 genomes]
rs13337994	1.00[ASN][1000 genomes]
rs13339324	0.90[ASN][1000 genomes]
rs1428838	1.00[ASN][1000 genomes]
rs1428839	1.00[ASN][1000 genomes]
rs2017197	0.90[ASN][1000 genomes]
rs28539358	1.00[ASN][1000 genomes]
rs61746433	0.90[ASN][1000 genomes]
rs6564417	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184776	0.82[ASN][1000 genomes]
rs7188241	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719053	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7198006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201284	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7203467	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs73627401	1.00[ASN][1000 genomes]
rs73633620	1.00[ASN][1000 genomes]
rs73633624	1.00[ASN][1000 genomes]
rs73633633	1.00[ASN][1000 genomes]
rs73633644	1.00[ASN][1000 genomes]
rs73633647	1.00[ASN][1000 genomes]
rs73633654	1.00[ASN][1000 genomes]
rs73633661	1.00[ASN][1000 genomes]
rs7501191	1.00[ASN][1000 genomes]
rs8048478	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9924958	0.90[ASN][1000 genomes]
rs9929722	1.00[ASN][1000 genomes]
rs9931082	0.90[ASN][1000 genomes]
rs9931400	1.00[ASN][1000 genomes]
rs9935921	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936182	1.00[ASN][1000 genomes]
rs9937408	1.00[ASN][1000 genomes]
rs9937693	1.00[ASN][1000 genomes]
rs9938871	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065343	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542965	chr16:76927295-77279747	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv524636	chr16:77258592-77297193	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77261400-77270200	Weak transcription	A549	lung
2	chr16:77262400-77271200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:77268200-77270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:77269200-77270200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:77269600-77270200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:77269600-77270200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr16:77269600-77270200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:77269800-77270200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:77269800-77270200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr16:77269800-77270200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:77269800-77270200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr16:77269800-77270200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr16:77269800-77270200	Enhancers	Fetal Muscle Trunk	muscle
14	chr16:77269800-77270200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:77269800-77270400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:77269800-77270400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:77269800-77270400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:77269800-77270400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr16:77269800-77270400	Enhancers	Brain Anterior Caudate	brain
20	chr16:77269800-77270400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:77269800-77270400	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr16:77269800-77270400	Enhancers	Fetal Thymus	thymus
23	chr16:77269800-77270400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:77269800-77270400	Enhancers	NH-A	brain
25	chr16:77269800-77270600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr16:77269800-77270600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:77269800-77270600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr16:77269800-77270600	Enhancers	Adipose Nuclei	Adipose
29	chr16:77269800-77270600	Enhancers	Brain Cingulate Gyrus	brain
30	chr16:77269800-77270600	Enhancers	Dnd41	blood
31	chr16:77269800-77270600	Enhancers	HUVEC	blood vessel
32	chr16:77270000-77270200	Enhancers	Colon Smooth Muscle	Colon
33	chr16:77270000-77270400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr16:77270000-77270400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:77270000-77270400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:77270000-77270400	Active TSS	Brain Germinal Matrix	brain
37	chr16:77270000-77270600	Active TSS	Stomach Smooth Muscle	stomach

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