Variant report

Variant	rs59619763
Chromosome Location	chr5:14214826-14214827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14139699..14141424-chr5:14213975..14216525,2	MCF-7	breast:
2	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
3	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16903265	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56140232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61665335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748679	0.96[AFR][1000 genomes]
rs73748685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748688	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751311	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
2	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
4	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14205800-14215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
9	chr5:14209000-14218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:14210200-14216800	Weak transcription	Placenta	Placenta
11	chr5:14210400-14215000	Enhancers	Fetal Intestine Small	intestine
12	chr5:14210400-14216600	Weak transcription	Fetal Stomach	stomach
13	chr5:14210600-14216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:14210600-14216800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:14210600-14217000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:14210600-14217000	Weak transcription	Pancreas	Pancrea
17	chr5:14210600-14217000	Weak transcription	Spleen	Spleen
18	chr5:14211400-14215000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:14211400-14216200	Weak transcription	Hela-S3	cervix
20	chr5:14212200-14216600	Weak transcription	Fetal Brain Female	brain
21	chr5:14212200-14218000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:14212400-14218400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:14212400-14219000	Genic enhancers	HSMM	muscle
24	chr5:14212600-14215200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:14212800-14216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:14212800-14216800	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:14213000-14216800	Weak transcription	Adipose Nuclei	Adipose
28	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:14213200-14215000	Enhancers	A549	lung
30	chr5:14213200-14215200	Weak transcription	HUVEC	blood vessel
31	chr5:14213200-14215600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:14213200-14216200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:14213200-14216200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:14213200-14216200	Weak transcription	Fetal Heart	heart
35	chr5:14213200-14216200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:14213200-14217800	Weak transcription	Stomach Mucosa	stomach
37	chr5:14213200-14218200	Enhancers	Thymus	Thymus
38	chr5:14213400-14216200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:14213400-14217000	Weak transcription	Right Ventricle	heart
40	chr5:14213400-14217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:14213400-14217600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:14213800-14215400	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:14213800-14217400	Weak transcription	Primary T cells from cord blood	blood
44	chr5:14214000-14215200	Weak transcription	NHDF-Ad	bronchial
45	chr5:14214000-14216600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:14214000-14217200	Weak transcription	Brain Anterior Caudate	brain
47	chr5:14214000-14217600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:14214200-14215000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:14214200-14216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:14214200-14216000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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