Variant report

Variant	rs1893713
Chromosome Location	chr4:99500333-99500334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99494205..99497159-chr4:99499484..99501729,2	MCF-7	breast:
2	chr4:99499694..99502354-chr4:99504624..99508480,3	K562	blood:

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

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

rs_ID	r²[population]
rs10021234	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10023449	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10029405	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11097622	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11940430	0.90[ASN][1000 genomes]
rs1358546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1358547	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534554	0.80[ASN][1000 genomes]
rs1573478	0.80[ASN][1000 genomes]
rs2866016	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699354	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6532751	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7678323	0.89[ASN][1000 genomes]
rs883619	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9996851	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
3	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
4	chr4:99490600-99501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
6	chr4:99490800-99509000	Weak transcription	HSMM	muscle
7	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
8	chr4:99492600-99501800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:99493200-99501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:99493600-99500400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:99493600-99501400	Weak transcription	Fetal Thymus	thymus
12	chr4:99496000-99502000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:99496000-99502000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:99496200-99500400	Weak transcription	Fetal Brain Male	brain
15	chr4:99496200-99501400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:99496200-99501400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:99496200-99502200	Weak transcription	Primary T cells from cord blood	blood
18	chr4:99496400-99503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:99496800-99504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:99498600-99500400	Enhancers	NHLF	lung
22	chr4:99498600-99500800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:99498600-99502600	Enhancers	Fetal Muscle Leg	muscle
24	chr4:99498600-99503200	Enhancers	Brain Substantia Nigra	brain
25	chr4:99498600-99503800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:99498600-99508000	Enhancers	Brain Anterior Caudate	brain
27	chr4:99498800-99500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99498800-99501000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr4:99498800-99501600	Enhancers	NHDF-Ad	bronchial
30	chr4:99498800-99503400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:99498800-99504000	Enhancers	Fetal Stomach	stomach
32	chr4:99498800-99507800	Enhancers	Brain Hippocampus Middle	brain
33	chr4:99499000-99502400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:99499200-99500600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:99499200-99504000	Enhancers	Brain Germinal Matrix	brain
36	chr4:99499400-99501200	Weak transcription	Fetal Heart	heart
37	chr4:99499400-99501200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:99499400-99501400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:99499400-99501400	Weak transcription	Osteobl	bone
40	chr4:99499400-99501800	Weak transcription	Stomach Mucosa	stomach
41	chr4:99499400-99503000	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:99499600-99500400	Enhancers	Fetal Muscle Trunk	muscle
43	chr4:99499600-99500800	Enhancers	Brain Angular Gyrus	brain
44	chr4:99499600-99501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:99499600-99501400	Enhancers	Ovary	ovary
46	chr4:99499600-99501600	Weak transcription	Fetal Lung	lung
47	chr4:99499800-99500400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:99499800-99500600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:99499800-99500600	Enhancers	NHEK	skin
50	chr4:99499800-99501000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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