Variant report

Variant	rs62323629
Chromosome Location	chr4:99499616-99499617
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	chr4:99494205..99497159-chr4:99499484..99501729,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10026446	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489125	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528548	0.81[AMR][1000 genomes]
rs1547382	0.91[ASN][1000 genomes]
rs17027799	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57541793	0.83[ASN][1000 genomes]
rs62323626	0.91[ASN][1000 genomes]
rs62323627	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62323632	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323633	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950152	0.81[AMR][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:66 , 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	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:99488200-99500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:99490600-99501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:99490800-99499800	Weak transcription	Right Atrium	heart
8	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
9	chr4:99490800-99509000	Weak transcription	HSMM	muscle
10	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
11	chr4:99492600-99499800	Weak transcription	Spleen	Spleen
12	chr4:99492600-99500200	Weak transcription	Fetal Brain Female	brain
13	chr4:99492600-99501800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:99493200-99501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:99493600-99500400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:99493600-99501400	Weak transcription	Fetal Thymus	thymus
17	chr4:99495200-99500200	Weak transcription	HMEC	breast
18	chr4:99495800-99499800	Weak transcription	NHEK	skin
19	chr4:99496000-99502000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:99496000-99502000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:99496200-99499800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:99496200-99500000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:99496200-99500400	Weak transcription	Fetal Brain Male	brain
24	chr4:99496200-99501400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:99496200-99501400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:99496200-99502200	Weak transcription	Primary T cells from cord blood	blood
27	chr4:99496400-99503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:99496600-99499800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:99496800-99504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:99498600-99500200	Enhancers	Fetal Kidney	kidney
32	chr4:99498600-99500400	Enhancers	NHLF	lung
33	chr4:99498600-99500800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:99498600-99502600	Enhancers	Fetal Muscle Leg	muscle
35	chr4:99498600-99503200	Enhancers	Brain Substantia Nigra	brain
36	chr4:99498600-99503800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:99498600-99508000	Enhancers	Brain Anterior Caudate	brain
38	chr4:99498800-99500200	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:99498800-99500200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:99498800-99500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:99498800-99501000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:99498800-99501600	Enhancers	NHDF-Ad	bronchial
43	chr4:99498800-99503400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:99498800-99504000	Enhancers	Fetal Stomach	stomach
45	chr4:99498800-99507800	Enhancers	Brain Hippocampus Middle	brain
46	chr4:99499000-99500200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:99499000-99502400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:99499200-99500600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:99499200-99504000	Enhancers	Brain Germinal Matrix	brain
50	chr4:99499400-99499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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