Variant report

Variant	rs72798700
Chromosome Location	chr16:75037985-75037986
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75036566..75038696-chr16:75039244..75042157,2	MCF-7	breast:
2	chr16:75036551..75039191-chr16:75121275..75123985,2	K562	blood:
3	chr16:75029906..75041710-chr16:75135762..75151574,68	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186187	Chromatin interaction
ENSG00000247033	Chromatin interaction
ENSG00000166816	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514386	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs71386227	1.00[AFR][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798683	1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	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
7	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv906908	chr16:75025548-75123994	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75033600-75040000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:75034600-75046000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:75034800-75044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:75034800-75045600	Weak transcription	Colonic Mucosa	Colon
5	chr16:75034800-75046600	Weak transcription	Aorta	Aorta
6	chr16:75035000-75043400	Weak transcription	Fetal Intestine Small	intestine
7	chr16:75035000-75044800	Weak transcription	Lung	lung
8	chr16:75035000-75045000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:75035000-75045400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:75035000-75045400	Weak transcription	Pancreas	Pancrea
11	chr16:75035000-75045600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:75035000-75045600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:75035000-75045600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:75035000-75046000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:75035000-75046600	Weak transcription	Fetal Kidney	kidney
16	chr16:75035000-75055000	Weak transcription	Esophagus	oesophagus
17	chr16:75035000-75074400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:75035400-75038400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:75035400-75040200	Enhancers	Fetal Heart	heart
20	chr16:75035400-75045400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:75035400-75045400	Weak transcription	A549	lung
22	chr16:75035400-75050800	Weak transcription	Liver	Liver
23	chr16:75035600-75038200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:75035600-75044200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:75035600-75044200	Weak transcription	Osteobl	bone
26	chr16:75035600-75045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:75035600-75046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:75035800-75038200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:75036000-75038000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:75036000-75038800	Enhancers	Fetal Brain Male	brain
31	chr16:75036000-75039200	Strong transcription	Primary T cells from cord blood	blood
32	chr16:75036000-75039600	Enhancers	Placenta	Placenta
33	chr16:75036000-75053400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:75036200-75038000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:75036200-75038000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:75036200-75038000	Weak transcription	NH-A	brain
37	chr16:75036200-75038200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:75036200-75038200	Enhancers	NHLF	lung
39	chr16:75036200-75038400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:75036200-75038400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:75036200-75045400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr16:75036400-75038200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr16:75036400-75041200	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:75036400-75045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:75036600-75038200	Weak transcription	Fetal Brain Female	brain
46	chr16:75036600-75038800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:75036600-75038800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:75036600-75039000	Strong transcription	Fetal Stomach	stomach
49	chr16:75036600-75039000	Genic enhancers	Thymus	Thymus
50	chr16:75036600-75044000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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