Variant report

Variant	rs73585979
Chromosome Location	chr14:21511212-21511213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21510788..21513433-chr14:21515904..21517988,2	K562	blood:
2	chr14:21510788..21513106-chr14:21516290..21517988,2	K562	blood:
3	chr14:21510764..21512661-chr14:21574565..21576762,2	K562	blood:
4	chr14:21456794..21459241-chr14:21511016..21512746,2	MCF-7	breast:
5	chr14:21502778..21505418-chr14:21509371..21512527,3	K562	blood:

Variant related genes	Relation type
ENSG00000178107	Chromatin interaction
ENSG00000206150	Chromatin interaction
ENSG00000165792	Chromatin interaction
ENSG00000165795	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2771314	1.00[AMR][1000 genomes]
rs2771357	1.00[AMR][1000 genomes]
rs73571930	1.00[AMR][1000 genomes]
rs73586029	1.00[AMR][1000 genomes]
rs74036595	1.00[AMR][1000 genomes]
rs74037713	1.00[AMR][1000 genomes]
rs74037714	1.00[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	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
4	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1039369	chr14:21499054-21530301	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21495400-21514200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21502000-21536600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21506600-21513400	Enhancers	Placenta	Placenta
4	chr14:21506800-21512400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:21507800-21517600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:21508000-21511400	Enhancers	Liver	Liver
7	chr14:21508200-21511400	Weak transcription	Stomach Mucosa	stomach
8	chr14:21508400-21511600	Weak transcription	Fetal Intestine Large	intestine
9	chr14:21508400-21511600	Weak transcription	Fetal Intestine Small	intestine
10	chr14:21508400-21513400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:21508400-21523600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:21508600-21511400	Weak transcription	Fetal Kidney	kidney
13	chr14:21508800-21511600	Weak transcription	K562	blood
14	chr14:21508800-21512600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:21509400-21511400	Enhancers	NHDF-Ad	bronchial
16	chr14:21509600-21511600	Enhancers	Hela-S3	cervix
17	chr14:21509600-21511800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:21509600-21512200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:21509600-21513000	Enhancers	Lung	lung
20	chr14:21509600-21513000	Enhancers	Pancreas	Pancrea
21	chr14:21509600-21513400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:21509600-21514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:21509800-21511400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:21509800-21512600	Enhancers	Brain Hippocampus Middle	brain
25	chr14:21509800-21512800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:21509800-21513200	Enhancers	Psoas Muscle	Psoas
27	chr14:21510000-21511800	Flanking Active TSS	NHEK	skin
28	chr14:21510000-21512000	Enhancers	Right Ventricle	heart
29	chr14:21510000-21512600	Enhancers	Brain Angular Gyrus	brain
30	chr14:21510200-21512800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:21510400-21511400	Weak transcription	Osteobl	bone
32	chr14:21510400-21511600	Flanking Active TSS	HMEC	breast
33	chr14:21510400-21512200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:21510400-21512800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr14:21510400-21512800	Enhancers	Right Atrium	heart
36	chr14:21510400-21513400	Enhancers	Left Ventricle	heart
37	chr14:21510400-21513400	Enhancers	Spleen	Spleen
38	chr14:21510600-21511400	Enhancers	Brain Anterior Caudate	brain
39	chr14:21510600-21511600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:21510600-21511600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:21510600-21512200	Enhancers	HepG2	liver
42	chr14:21510600-21512800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:21510600-21513400	Enhancers	Adipose Nuclei	Adipose
44	chr14:21510600-21513400	Enhancers	Fetal Heart	heart
45	chr14:21510800-21511800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:21510800-21513200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:21511000-21511400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:21511000-21511400	Flanking Active TSS	HSMMtube	muscle
49	chr14:21511000-21511800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:21511000-21511800	Enhancers	Cortex derived primary cultured neurospheres	brain

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