Variant report

Variant	rs72990347
Chromosome Location	chr3:141302578-141302579
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141301255..141303348-chr3:141304484..141306146,2	K562	blood:
2	chr3:141300234..141304209-chr3:141304484..141307292,3	K562	blood:

Variant related genes	Relation type
ENSG00000155903	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58449157	1.00[AMR][1000 genomes]
rs72988323	1.00[AMR][1000 genomes]
rs72990332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794809	chr3:141290177-141304631	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:141255200-141304800	Weak transcription	Ovary	ovary
4	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
6	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
7	chr3:141272600-141319200	Strong transcription	Dnd41	blood
8	chr3:141275800-141320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
10	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:141277800-141312000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
13	chr3:141288000-141312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:141288200-141320000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:141288400-141316400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:141288600-141302800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:141288600-141308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:141288600-141316400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr3:141289000-141311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:141289000-141316600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:141289200-141309000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:141289200-141316400	Strong transcription	Fetal Thymus	thymus
23	chr3:141293800-141319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:141294800-141319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:141295000-141319200	Weak transcription	Esophagus	oesophagus
26	chr3:141295200-141320000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:141295400-141314000	Weak transcription	Colonic Mucosa	Colon
28	chr3:141295600-141319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:141295600-141320000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:141295800-141303600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:141295800-141313000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:141295800-141316400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:141295800-141320800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:141296000-141316000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:141296200-141309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:141296400-141303800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:141296400-141307000	Strong transcription	Liver	Liver
38	chr3:141296400-141307600	Strong transcription	HSMM	muscle
39	chr3:141296600-141307400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:141296600-141312200	Strong transcription	Primary B cells from cord blood	blood
41	chr3:141296800-141307600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:141296800-141307800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:141296800-141310800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:141296800-141316400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:141296800-141316600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:141297000-141302800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:141297000-141303000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:141297000-141303000	Strong transcription	Fetal Lung	lung
49	chr3:141297000-141308000	Strong transcription	Placenta	Placenta
50	chr3:141297000-141313600	Strong transcription	Primary T cells from cord blood	blood

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