Variant report

Variant	rs72704952
Chromosome Location	chr9:14653104-14653105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
2	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
3	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
4	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
5	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11788056	1.00[AFR][1000 genomes]
rs11789042	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793517	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11795087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4124592	1.00[ASN][1000 genomes]
rs56107681	1.00[ASN][1000 genomes]
rs56239390	1.00[ASN][1000 genomes]
rs72702962	1.00[AFR][1000 genomes]
rs72702994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72702995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72702999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72704924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709584	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv521363	chr9:14566406-14691897	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892608	chr9:14589173-14689088	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2755661	chr9:14615367-14660700	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv892610	chr9:14622952-14654900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv892611	chr9:14635546-14676174	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv466260	chr9:14639666-14662459	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv613643	chr9:14639666-14662459	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1033392	chr9:14643651-14657693	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
2	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
5	chr9:14605600-14654800	Weak transcription	HSMM	muscle
6	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
8	chr9:14619400-14653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:14619400-14654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:14619600-14654800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:14626800-14655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:14629400-14654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:14629400-14655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:14630000-14654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr9:14630400-14654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:14631000-14654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:14631000-14654800	Weak transcription	Brain Anterior Caudate	brain
18	chr9:14631000-14654800	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
20	chr9:14631200-14653600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:14631200-14653600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:14631200-14653600	Weak transcription	Adipose Nuclei	Adipose
23	chr9:14631400-14653600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:14631600-14653600	Weak transcription	Left Ventricle	heart
25	chr9:14631800-14654000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:14632600-14654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr9:14633400-14653800	Weak transcription	Fetal Lung	lung
28	chr9:14634200-14654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:14634400-14653600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:14634400-14654000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:14634600-14654000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:14634600-14654200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:14634600-14654400	Weak transcription	Fetal Intestine Large	intestine
35	chr9:14634600-14654800	Weak transcription	Right Ventricle	heart
36	chr9:14634600-14659000	Weak transcription	Fetal Stomach	stomach
37	chr9:14634600-14692400	Weak transcription	Gastric	stomach
38	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
39	chr9:14635600-14653800	Weak transcription	Brain Germinal Matrix	brain
40	chr9:14635800-14653600	Weak transcription	GM12878-XiMat	blood
41	chr9:14635800-14659800	Weak transcription	Ovary	ovary
42	chr9:14636000-14653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:14636000-14653600	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:14636400-14653200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr9:14637000-14653600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:14637200-14653400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:14638400-14654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:14639400-14653200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:14639600-14653600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:14641000-14653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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