Variant report

Variant	rs72802307
Chromosome Location	chr16:75187771-75187772
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75186746..75189106-chr16:75203648..75206218,2	K562	blood:
2	chr16:75181690..75184068-chr16:75186243..75191762,6	K562	blood:
3	chr16:75181494..75185436-chr16:75186655..75190835,7	MCF-7	breast:
4	chr16:75181690..75184635-chr16:75186243..75190483,4	K562	blood:
5	chr16:75185577..75187771-chr16:75192664..75195328,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11538267	1.00[ASN][1000 genomes]
rs11640206	1.00[ASN][1000 genomes]
rs11641289	1.00[ASN][1000 genomes]
rs11642025	1.00[ASN][1000 genomes]
rs12933939	1.00[ASN][1000 genomes]
rs2081214	1.00[ASN][1000 genomes]
rs34871232	1.00[ASN][1000 genomes]
rs4888359	1.00[ASN][1000 genomes]
rs56041903	1.00[ASN][1000 genomes]
rs7184887	1.00[ASN][1000 genomes]
rs7195528	1.00[ASN][1000 genomes]
rs72800346	1.00[AFR][1000 genomes]
rs72802316	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047117	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	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
4	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
6	esv2761914	chr16:75152826-75190708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
8	esv1791872	chr16:75167579-75189792	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75183200-75188800	Weak transcription	Spleen	Spleen
2	chr16:75183200-75189000	Weak transcription	Lung	lung
3	chr16:75183200-75201400	Weak transcription	Gastric	stomach
4	chr16:75183200-75202800	Weak transcription	Pancreas	Pancrea
5	chr16:75183400-75188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:75183400-75188800	Weak transcription	HSMMtube	muscle
7	chr16:75183400-75189000	Weak transcription	Osteobl	bone
8	chr16:75183400-75193400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:75183400-75197600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:75183400-75199400	Weak transcription	Stomach Mucosa	stomach
11	chr16:75183400-75200600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:75183400-75200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:75183400-75200600	Weak transcription	Colonic Mucosa	Colon
14	chr16:75183400-75200600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:75183400-75200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:75183400-75200800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:75183400-75202200	Weak transcription	Right Ventricle	heart
18	chr16:75183600-75189000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:75183600-75189000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:75183600-75192800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:75183600-75193800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:75183600-75200800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:75183600-75206800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:75183800-75188000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:75183800-75197600	Weak transcription	Hela-S3	cervix
26	chr16:75183800-75200000	Weak transcription	NHLF	lung
27	chr16:75184000-75188000	ZNF genes & repeats	Dnd41	blood
28	chr16:75184000-75188800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:75184000-75200600	Weak transcription	Small Intestine	intestine
30	chr16:75184000-75201000	Weak transcription	Colon Smooth Muscle	Colon
31	chr16:75184400-75189600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr16:75184400-75196400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr16:75184600-75187800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr16:75184600-75208200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:75185000-75188200	Weak transcription	Placenta	Placenta
36	chr16:75185000-75188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:75185000-75188800	Weak transcription	Left Ventricle	heart
38	chr16:75185000-75190600	Weak transcription	Ovary	ovary
39	chr16:75185000-75193000	Weak transcription	Aorta	Aorta
40	chr16:75185000-75197600	Weak transcription	Esophagus	oesophagus
41	chr16:75185000-75200600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:75185800-75191800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:75186200-75187800	ZNF genes & repeats	Fetal Lung	lung
44	chr16:75186200-75188000	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr16:75186200-75189400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr16:75186200-75189400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr16:75186200-75193000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr16:75186200-75197400	Strong transcription	Fetal Thymus	thymus
49	chr16:75186400-75187800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:75186400-75187800	ZNF genes & repeats	Brain Substantia Nigra	brain

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