Variant report

Variant	rs60721875
Chromosome Location	chr14:32047630-32047631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32039155..32042058-chr14:32047091..32049607,2	K562	blood:
2	chr14:32045847..32047973-chr14:32058333..32059909,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57193303	1.00[AFR][1000 genomes]
rs58506726	1.00[AFR][1000 genomes]
rs58828441	1.00[AFR][1000 genomes]
rs59745890	1.00[AFR][1000 genomes]
rs60729654	1.00[AFR][1000 genomes]
rs61011580	1.00[AFR][1000 genomes]
rs74040821	1.00[AFR][1000 genomes]
rs74040828	1.00[AFR][1000 genomes]
rs74040875	1.00[AFR][1000 genomes]
rs74040878	1.00[AFR][1000 genomes]
rs74040886	1.00[AFR][1000 genomes]
rs74040889	1.00[AFR][1000 genomes]
rs74043612	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32031000-32048000	Weak transcription	Esophagus	oesophagus
2	chr14:32031000-32054400	Weak transcription	Pancreas	Pancrea
3	chr14:32031400-32050000	Weak transcription	Fetal Brain Female	brain
4	chr14:32031400-32052800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:32031400-32069400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:32031400-32069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:32031600-32049600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:32031600-32061200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:32031600-32069200	Weak transcription	Fetal Intestine Small	intestine
10	chr14:32031800-32048000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:32031800-32050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:32031800-32051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:32031800-32051600	Weak transcription	Liver	Liver
14	chr14:32031800-32068200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:32031800-32069400	Weak transcription	A549	lung
16	chr14:32036200-32047800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:32037400-32069400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:32037400-32071200	Weak transcription	HSMM	muscle
19	chr14:32037600-32047800	Weak transcription	Dnd41	blood
20	chr14:32037600-32069400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:32037800-32047800	Weak transcription	Osteobl	bone
22	chr14:32037800-32050000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:32040400-32048000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:32040600-32047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:32040600-32051800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:32042000-32048000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:32042400-32052200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:32042600-32052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:32042800-32050200	Weak transcription	GM12878-XiMat	blood
30	chr14:32042800-32068800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:32042800-32075600	Weak transcription	Primary T cells from cord blood	blood
32	chr14:32046200-32048200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:32046200-32050800	Weak transcription	Fetal Stomach	stomach
34	chr14:32046200-32051000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:32046200-32110600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:32046400-32049800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:32046400-32052000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:32046400-32062800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:32046400-32073400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:32046600-32048600	Enhancers	Aorta	Aorta
41	chr14:32046600-32054400	Weak transcription	NHEK	skin
42	chr14:32046600-32069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:32046800-32048000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:32046800-32048400	Enhancers	Colon Smooth Muscle	Colon
45	chr14:32046800-32048400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:32046800-32048400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:32046800-32048400	Enhancers	NHDF-Ad	bronchial
48	chr14:32046800-32049000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:32046800-32049000	Enhancers	Ovary	ovary
50	chr14:32046800-32049000	Enhancers	Skeletal Muscle Female	skeletal muscle

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