Variant report

Variant	rs72672916
Chromosome Location	chr14:45530290-45530291
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45501888..45504415-chr14:45528561..45531517,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72672912	1.00[AFR][1000 genomes]
rs72672913	1.00[AFR][1000 genomes]
rs72672919	0.85[AMR][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	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
8	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
3	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
4	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
6	chr14:45508000-45540000	Weak transcription	K562	blood
7	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
9	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:45509200-45543400	Weak transcription	Lung	lung
14	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
16	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
17	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
18	chr14:45509200-45553000	Weak transcription	Gastric	stomach
19	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
20	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:45516000-45530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:45516200-45531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:45516200-45534600	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:45516200-45538800	Weak transcription	Ovary	ovary
25	chr14:45516200-45539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
27	chr14:45516400-45530800	Weak transcription	Colonic Mucosa	Colon
28	chr14:45516400-45533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:45516400-45534600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:45516400-45539400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:45516400-45552600	Weak transcription	NH-A	brain
32	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
33	chr14:45516800-45552600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:45519400-45539800	Weak transcription	HUVEC	blood vessel
35	chr14:45520800-45535000	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:45521400-45542000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:45521800-45534600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:45522200-45541200	Weak transcription	Adipose Nuclei	Adipose
39	chr14:45522400-45534800	Weak transcription	Osteobl	bone
40	chr14:45522800-45534600	Weak transcription	Left Ventricle	heart
41	chr14:45524200-45537600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:45524200-45552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:45524600-45533800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:45524600-45545200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:45524600-45545200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:45524600-45552400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:45524600-45552600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:45524800-45538800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:45524800-45541000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:45524800-45541200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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