Variant report

Variant	rs73615082
Chromosome Location	chr16:75680495-75680496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75680471-75680663	GM12878	blood:	n/a	n/a
2	MXI1	chr16:75680338-75684517	SK-N-SH	brain:	n/a	n/a
3	HEY1	chr16:75680474-75681013	K562	blood:	n/a	n/a
4	POLR2A	chr16:75680181-75680750	HepG2	liver:	n/a	n/a
5	HCFC1	chr16:75680408-75682898	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75466586..75469509-chr16:75679295..75683235,4	K562	blood:
2	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
3	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
4	chr16:75548080..75552218-chr16:75679936..75683385,4	K562	blood:
5	chr16:75680135..75682966-chr16:77223241..77226200,3	MCF-7	breast:
6	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:
7	chr16:75634260..75637164-chr16:75680044..75681999,3	K562	blood:
8	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:

No data

Variant related genes	Relation type
KARS	TF binding region
TERF2IP	TF binding region
ENSG00000065457	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11149845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11866630	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16940813	0.93[EUR][1000 genomes]
rs16942256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16942274	0.81[EUR][1000 genomes]
rs2242408	0.84[EUR][1000 genomes]
rs2453141	0.82[EUR][1000 genomes]
rs2550883	0.82[EUR][1000 genomes]
rs2550884	0.82[EUR][1000 genomes]
rs2550888	0.84[EUR][1000 genomes]
rs7187847	0.97[EUR][1000 genomes]
rs7205042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8053257	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75659200-75680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75669800-75680600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:75675600-75680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:75675600-75680600	Weak transcription	Aorta	Aorta
5	chr16:75677400-75680600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:75678000-75680600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:75678800-75680600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:75679000-75680600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr16:75679000-75680600	Enhancers	Small Intestine	intestine
10	chr16:75679200-75680600	Enhancers	Left Ventricle	heart
11	chr16:75679400-75680600	Enhancers	Primary hematopoietic stem cells	blood
12	chr16:75679400-75680600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:75679400-75680600	Enhancers	Gastric	stomach
14	chr16:75679400-75680600	Enhancers	Pancreas	Pancrea
15	chr16:75679400-75680800	Flanking Active TSS	GM12878-XiMat	blood
16	chr16:75679600-75680600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:75679600-75680600	Enhancers	Primary B cells from cord blood	blood
18	chr16:75679600-75680600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr16:75679600-75680600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr16:75679600-75680600	Enhancers	Colon Smooth Muscle	Colon
21	chr16:75679600-75680600	Weak transcription	Fetal Intestine Large	intestine
22	chr16:75679600-75680600	Enhancers	Lung	lung
23	chr16:75679600-75680600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr16:75679600-75680800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr16:75679600-75681000	Enhancers	Spleen	Spleen
26	chr16:75679600-75681000	Flanking Active TSS	Hela-S3	cervix
27	chr16:75679800-75680600	Enhancers	Primary B cells from peripheral blood	blood
28	chr16:75679800-75681000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr16:75679800-75684600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr16:75680000-75680600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr16:75680000-75680600	Enhancers	Brain Substantia Nigra	brain
32	chr16:75680000-75680800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:75680000-75680800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:75680000-75680800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr16:75680000-75680800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr16:75680000-75681000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:75680000-75681000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr16:75680000-75681200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr16:75680000-75683800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:75680000-75683800	Active TSS	A549	lung
41	chr16:75680000-75684400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr16:75680000-75684800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr16:75680200-75680600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:75680200-75680600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:75680200-75680600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr16:75680200-75680600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:75680200-75680600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:75680200-75680600	Active TSS	Colonic Mucosa	Colon
49	chr16:75680200-75680600	Enhancers	Esophagus	oesophagus
50	chr16:75680200-75680600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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