Variant report

Variant	rs72968480
Chromosome Location	chr3:119125497-119125498
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	chr3:119119325..119121330-chr3:119125075..119127881,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs34746912	1.00[AMR][1000 genomes]
rs3968056	1.00[AMR][1000 genomes]
rs56659708	1.00[AMR][1000 genomes]
rs61324063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6782742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72655924	1.00[AMR][1000 genomes]
rs72655931	1.00[AMR][1000 genomes]
rs72956724	1.00[AMR][1000 genomes]
rs72966441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970322	1.00[AMR][1000 genomes];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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
10	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:119099000-119126200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
13	chr3:119102600-119133200	Weak transcription	NHLF	lung
14	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:119105400-119130000	Weak transcription	Fetal Brain Male	brain
16	chr3:119106400-119131200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:119108400-119125600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:119109400-119130800	Strong transcription	Osteobl	bone
21	chr3:119110200-119128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:119110400-119132200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:119111800-119128000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:119111800-119128800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:119111800-119128800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:119111800-119129200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:119111800-119132600	Weak transcription	Thymus	Thymus
29	chr3:119112000-119132600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:119112000-119132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:119112200-119128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:119112200-119128400	Weak transcription	Liver	Liver
34	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
35	chr3:119112400-119132800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
38	chr3:119114600-119132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:119116400-119132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:119116600-119133400	Strong transcription	Left Ventricle	heart
41	chr3:119118600-119133200	Weak transcription	Fetal Intestine Large	intestine
42	chr3:119118800-119129400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:119119800-119126200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:119120200-119125800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:119120600-119126200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:119120800-119125800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:119121000-119127000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr3:119121200-119128800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:119121200-119129200	Weak transcription	Brain Anterior Caudate	brain

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