Variant report

Variant	rs2550320
Chromosome Location	chr16:75531925-75531926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75530551..75532986-chr16:75540003..75542944,2	K562	blood:

Extended variants
information (count: 87 )
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]
rs16940348	1.00[AMR][1000 genomes]
rs16940362	1.00[AMR][1000 genomes]
rs16940444	1.00[AMR][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]
rs2550321	1.00[ASN][1000 genomes]
rs2550322	1.00[ASN][1000 genomes]
rs2550889	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2550892	0.92[ASN][1000 genomes]
rs2550893	0.92[ASN][1000 genomes]
rs2550897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2550898	0.92[ASN][1000 genomes]
rs2550900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550901	1.00[ASN][1000 genomes]
rs2550902	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550905	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2550906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550907	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2550915	0.87[AFR][1000 genomes]
rs2641803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2641807	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2650406	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2650410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2650411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650413	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650415	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650416	0.83[EUR][1000 genomes]
rs2738800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2738806	1.00[ASN][1000 genomes]
rs55714466	1.00[AMR][1000 genomes]
rs55862257	1.00[AMR][1000 genomes]
rs56030666	1.00[AMR][1000 genomes]
rs56321575	1.00[AMR][1000 genomes]
rs60919196	1.00[AMR][1000 genomes]
rs7194333	1.00[AMR][1000 genomes]
rs72563121	1.00[AMR][1000 genomes]
rs73610805	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74024796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027409	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027420	1.00[AMR][1000 genomes]
rs74027421	1.00[AMR][1000 genomes]
rs74027424	1.00[AMR][1000 genomes]
rs74027425	1.00[AMR][1000 genomes]
rs74027427	1.00[AMR][1000 genomes]
rs74027428	1.00[AMR][1000 genomes]
rs74027431	1.00[AMR][1000 genomes]
rs74027432	1.00[AMR][1000 genomes]
rs74027433	1.00[AMR][1000 genomes]
rs74027436	1.00[AMR][1000 genomes]
rs74027439	1.00[AMR][1000 genomes]
rs74027443	1.00[AMR][1000 genomes]
rs8192515	1.00[AMR][1000 genomes]
rs920037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
18	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	20 gene(s)	inside rSNPs	diseases
21	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	esv3509911	chr16:75531267-75573060	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
24	esv3509912	chr16:75531267-75573060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75529400-75532200	Weak transcription	Aorta	Aorta
2	chr16:75529400-75532200	Weak transcription	Pancreas	Pancrea
3	chr16:75529400-75532200	Weak transcription	HMEC	breast
4	chr16:75529400-75532200	Weak transcription	HSMM	muscle
5	chr16:75529400-75533600	Weak transcription	Left Ventricle	heart
6	chr16:75529400-75535200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:75529400-75535600	Weak transcription	Brain Substantia Nigra	brain
8	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:75529600-75533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:75529600-75535400	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:75529600-75541800	Weak transcription	Right Atrium	heart
12	chr16:75529800-75532200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:75529800-75532200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:75529800-75532200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:75529800-75532200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:75529800-75537800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:75529800-75550200	Weak transcription	Spleen	Spleen
18	chr16:75530000-75532400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:75530800-75533800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:75531200-75532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:75531200-75532800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr16:75531200-75532800	Enhancers	Brain Hippocampus Middle	brain
23	chr16:75531400-75532800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:75531600-75532400	Enhancers	Fetal Muscle Leg	muscle
25	chr16:75531600-75532800	Enhancers	Fetal Heart	heart
26	chr16:75531800-75532400	Weak transcription	Hela-S3	cervix
27	chr16:75531800-75532600	Enhancers	Brain Anterior Caudate	brain
28	chr16:75531800-75532600	Enhancers	Stomach Smooth Muscle	stomach

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