Variant report

Variant	rs2550900
Chromosome Location	chr16:75526247-75526248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75521011..75523844-chr16:75524605..75527828,4	MCF-7	breast:
2	chr16:75505434..75506225-chr16:75525498..75526266,4	MCF-7	breast:
3	chr16:75495811..75498525-chr16:75525539..75527505,2	MCF-7	breast:
4	chr16:75505256..75507400-chr16:75525903..75527940,2	MCF-7	breast:
5	chr16:75465026..75467989-chr16:75524514..75527095,2	MCF-7	breast:
6	chr16:75498448..75499224-chr16:75525475..75526337,2	MCF-7	breast:
7	chr16:75525799..75526656-chr16:75550606..75551571,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes]
rs1626987	0.84[ASN][1000 genomes]
rs16940260	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940348	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940362	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940444	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16940961	1.00[AMR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes]
rs16941301	1.00[AMR][1000 genomes]
rs16941409	1.00[AMR][1000 genomes]
rs16941516	1.00[AMR][1000 genomes]
rs16942032	1.00[AMR][1000 genomes]
rs2164246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550321	1.00[ASN][1000 genomes]
rs2550322	1.00[ASN][1000 genomes]
rs2550889	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550892	0.92[ASN][1000 genomes]
rs2550893	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2550897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2550898	0.92[ASN][1000 genomes]
rs2550901	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550902	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550903	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550905	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550914	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550915	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2641803	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2641807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650406	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2650410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2650411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650413	1.00[ASN][1000 genomes]
rs2650415	1.00[ASN][1000 genomes]
rs2738800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2738806	1.00[ASN][1000 genomes]
rs55714466	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55862257	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56030666	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56321575	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60919196	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7194333	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72563121	1.00[AMR][1000 genomes]
rs73610805	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74024796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027420	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027421	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027424	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027425	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027427	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027428	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027431	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027432	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027433	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027436	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027439	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027441	0.86[EUR][1000 genomes]
rs74027443	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8192515	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs920037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS 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	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' 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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75514000-75528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:75514000-75528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:75520400-75528200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:75521000-75527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:75521200-75527000	Enhancers	GM12878-XiMat	blood
6	chr16:75521200-75528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:75522000-75527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75522400-75528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:75524600-75528000	Enhancers	Brain Substantia Nigra	brain
10	chr16:75525400-75526400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr16:75525400-75527800	Enhancers	Brain Hippocampus Middle	brain
12	chr16:75525600-75526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:75525600-75526400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:75525600-75526400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:75525600-75526400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr16:75525600-75526400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:75525600-75526400	Enhancers	Brain Angular Gyrus	brain
18	chr16:75525600-75526400	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:75525600-75526400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:75525600-75526400	Enhancers	HMEC	breast
21	chr16:75525600-75526600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr16:75525600-75526800	Enhancers	Brain Anterior Caudate	brain
23	chr16:75525600-75526800	Enhancers	Hela-S3	cervix
24	chr16:75525600-75528200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:75525800-75526400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:75525800-75526400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:75525800-75526400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:75525800-75526400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr16:75525800-75526600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr16:75525800-75526600	Enhancers	Placenta	Placenta
31	chr16:75525800-75527000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:75526000-75526400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:75526000-75526400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr16:75526000-75526400	Enhancers	NHEK	skin
35	chr16:75526200-75526400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:75526200-75526400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:75526200-75528000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:75526200-75528400	Weak transcription	Pancreas	Pancrea
39	chr16:75526200-75529000	Weak transcription	A549	lung

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