Variant report

Variant	rs72798641
Chromosome Location	chr16:74952326-74952327
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74950852..74952880-chr16:74954374..74957152,3	K562	blood:
2	chr16:74948415..74949953-chr16:74950893..74952684,2	K562	blood:
3	chr16:74947124..74949915-chr16:74951184..74954053,2	K562	blood:
4	chr16:74950290..74953644-chr16:74954606..74958589,7	MCF-7	breast:
5	chr16:74938799..74940789-chr16:74951920..74954706,2	K562	blood:

Variant related genes	Relation type
ENSG00000103091	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72798647	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74937000-74956000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:74939600-74953000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:74939800-74952800	Strong transcription	HepG2	liver
5	chr16:74939800-74958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:74940000-74958600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:74940200-74952800	Strong transcription	NH-A	brain
8	chr16:74940200-74955800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:74940400-74953000	Strong transcription	Brain Cingulate Gyrus	brain
10	chr16:74940400-74955800	Strong transcription	Brain Anterior Caudate	brain
11	chr16:74940400-74956600	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:74940400-74957000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:74940800-74956600	Strong transcription	Fetal Brain Female	brain
14	chr16:74941800-74958600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:74945000-74955800	Strong transcription	Left Ventricle	heart
16	chr16:74945200-74953000	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr16:74945200-74958600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:74945400-74952600	Strong transcription	NHDF-Ad	bronchial
19	chr16:74945800-74953000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:74946000-74957200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr16:74946200-74953200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:74946400-74955200	Weak transcription	NHLF	lung
23	chr16:74946400-74955400	Weak transcription	Fetal Heart	heart
24	chr16:74947000-74957400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:74947200-74958200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr16:74947400-74956000	Strong transcription	Ovary	ovary
27	chr16:74947400-74957800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:74947600-74952800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:74947600-74955600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:74947600-74955600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:74947600-74955800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:74947600-74958600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:74947800-74954200	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:74947800-74955400	Weak transcription	Psoas Muscle	Psoas
35	chr16:74947800-74956000	Weak transcription	Stomach Mucosa	stomach
36	chr16:74947800-74957000	Strong transcription	Dnd41	blood
37	chr16:74947800-74958600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:74947800-74958800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr16:74947800-74959200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:74947800-74963800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr16:74947800-74967800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:74948000-74953400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:74948000-74954000	Strong transcription	Lung	lung
44	chr16:74948000-74956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:74948000-74956400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:74948000-74956600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:74948000-74957000	Strong transcription	Adipose Nuclei	Adipose
48	chr16:74948000-74958000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:74948000-74958600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr16:74948200-74953600	Strong transcription	Placenta	Placenta

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