Variant report

Variant	rs61237574
Chromosome Location	chr16:31136856-31136857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31136256-31138072	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:31136133-31138095	K562	blood:	n/a	n/a
3	POLR2A	chr16:31136792-31137699	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr16:31133712-31138654	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:31136188-31138126	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31135331..31138957-chr16:31191389..31193517,3	K562	blood:
2	chr16:31125394..31127010-chr16:31134629..31136872,2	K562	blood:
3	chr16:31135331..31138307-chr16:31191290..31193517,3	K562	blood:
4	chr16:31135542..31139152-chr16:31197024..31199898,3	K562	blood:

Variant related genes	Relation type
KAT8	TF binding region
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13331793	1.00[AMR][1000 genomes]
rs13339393	1.00[AMR][1000 genomes]
rs17878259	0.82[AFR][1000 genomes]
rs28428182	1.00[AMR][1000 genomes]
rs28637378	1.00[AMR][1000 genomes]
rs34107331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34259949	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34831291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34889904	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56196402	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59076556	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015066	1.00[AMR][1000 genomes]
rs74015068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[AMR][1000 genomes]
rs9922051	1.00[AMR][1000 genomes]
rs9933960	1.00[AMR][1000 genomes]
rs9940181	1.00[AMR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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 miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31137200	Weak transcription	Stomach Mucosa	stomach
2	chr16:31130400-31139000	Strong transcription	Fetal Thymus	thymus
3	chr16:31130400-31139800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr16:31130400-31140400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr16:31130400-31145000	Strong transcription	Fetal Brain Female	brain
6	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:31130600-31138600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:31130600-31138600	Strong transcription	Fetal Intestine Small	intestine
9	chr16:31130600-31138800	Strong transcription	Fetal Intestine Large	intestine
10	chr16:31130600-31139000	Strong transcription	Fetal Muscle Leg	muscle
11	chr16:31130600-31139600	Strong transcription	Adipose Nuclei	Adipose
12	chr16:31130600-31140600	Weak transcription	Right Atrium	heart
13	chr16:31130600-31144400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr16:31130600-31144800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:31130600-31144800	Strong transcription	Thymus	Thymus
16	chr16:31130600-31145000	Weak transcription	Fetal Heart	heart
17	chr16:31130600-31145200	Strong transcription	Fetal Stomach	stomach
18	chr16:31130800-31139400	Strong transcription	Primary T cells from cord blood	blood
19	chr16:31130800-31143800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr16:31130800-31144200	Strong transcription	Liver	Liver
21	chr16:31130800-31145000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31131200-31140600	Weak transcription	Psoas Muscle	Psoas
23	chr16:31131400-31138800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr16:31131400-31138800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr16:31132000-31139000	Strong transcription	Placenta	Placenta
26	chr16:31132200-31138400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:31132200-31138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr16:31132200-31138800	Weak transcription	Small Intestine	intestine
29	chr16:31132400-31137000	Weak transcription	Esophagus	oesophagus
30	chr16:31132400-31138600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:31132400-31145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:31132400-31146000	Weak transcription	Hela-S3	cervix
33	chr16:31132800-31138200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:31133000-31137000	Weak transcription	Brain Angular Gyrus	brain
35	chr16:31133000-31137800	Weak transcription	Pancreas	Pancrea
36	chr16:31133000-31140600	Weak transcription	HSMMtube	muscle
37	chr16:31133200-31138200	Weak transcription	Aorta	Aorta
38	chr16:31133400-31137800	Weak transcription	NHLF	lung
39	chr16:31133800-31137000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:31133800-31137200	Weak transcription	Colonic Mucosa	Colon
41	chr16:31133800-31137400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:31133800-31138400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr16:31133800-31138400	Weak transcription	A549	lung
44	chr16:31133800-31138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr16:31133800-31139000	Weak transcription	HepG2	liver
46	chr16:31133800-31140200	Weak transcription	HMEC	breast
47	chr16:31133800-31141400	Weak transcription	NHDF-Ad	bronchial
48	chr16:31133800-31146200	Weak transcription	Fetal Brain Male	brain
49	chr16:31134000-31137000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:31134000-31137400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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