Variant report

Variant	rs697558
Chromosome Location	chr5:14271680-14271681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14155881..14158811-chr5:14267142..14271683,5	MCF-7	breast:
2	chr5:13986931..13990201-chr5:14268952..14272276,3	MCF-7	breast:
3	chr5:14143084..14145343-chr5:14271406..14275667,4	MCF-7	breast:
4	chr5:14238457..14240756-chr5:14270238..14271962,2	MCF-7	breast:
5	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11133785	0.83[EUR][1000 genomes]
rs16903375	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903389	0.95[EUR][1000 genomes]
rs1697168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697170	0.97[EUR][1000 genomes]
rs2463803	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58383010	0.95[EUR][1000 genomes]
rs60768136	0.83[EUR][1000 genomes]
rs62344973	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.83[EUR][1000 genomes]
rs62346588	1.00[EUR][1000 genomes]
rs62346590	0.95[EUR][1000 genomes]
rs6879505	0.95[EUR][1000 genomes]
rs6887831	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]
rs697559	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710935	0.83[EUR][1000 genomes]
rs7731443	0.83[EUR][1000 genomes]
rs7732548	1.00[EUR][1000 genomes]
rs773764	1.00[EUR][1000 genomes]
rs773765	1.00[EUR][1000 genomes]
rs773766	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14272200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
4	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
5	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:14267000-14272600	Enhancers	HepG2	liver
7	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
8	chr5:14269000-14271800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:14269000-14272400	Enhancers	Liver	Liver
10	chr5:14269200-14280000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
12	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
13	chr5:14269400-14273800	Genic enhancers	HSMM	muscle
14	chr5:14270200-14272600	Enhancers	Fetal Heart	heart
15	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14270400-14271800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:14270400-14271800	Genic enhancers	Osteobl	bone
18	chr5:14270400-14272200	Weak transcription	K562	blood
19	chr5:14270400-14272600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:14270400-14273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:14270400-14276200	Weak transcription	Psoas Muscle	Psoas
22	chr5:14270400-14276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:14270400-14276400	Weak transcription	Left Ventricle	heart
24	chr5:14270400-14277600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:14270400-14278200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:14270400-14279800	Weak transcription	Ovary	ovary
27	chr5:14270400-14280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:14270400-14280400	Weak transcription	Placenta	Placenta
29	chr5:14270400-14280400	Weak transcription	Fetal Thymus	thymus
30	chr5:14270400-14280600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:14270400-14280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:14270400-14280600	Weak transcription	Lung	lung
33	chr5:14270400-14283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:14270400-14284400	Weak transcription	Colonic Mucosa	Colon
35	chr5:14270400-14284600	Weak transcription	Brain Germinal Matrix	brain
36	chr5:14270400-14284800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:14270400-14284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:14270400-14289400	Weak transcription	Gastric	stomach
42	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
45	chr5:14270600-14274600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:14270600-14279800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:14270800-14274600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:14270800-14276200	Weak transcription	Brain Anterior Caudate	brain
49	chr5:14270800-14276200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:14270800-14276600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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