Variant report

Variant	rs72938804
Chromosome Location	chr3:49205815-49205816
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	chr3:49170314..49172544-chr3:49203627..49206396,2	K562	blood:
2	chr3:49204930..49207200-chr3:49449603..49451351,2	K562	blood:

Variant related genes	Relation type
ENSG00000172037	Chromatin interaction
ENSG00000067560	Chromatin interaction
ENSG00000145022	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28533514	1.00[AMR][1000 genomes]
rs59249086	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913304	1.00[AMR][1000 genomes]
rs72922906	1.00[AMR][1000 genomes]
rs72922911	1.00[AMR][1000 genomes]
rs72922921	1.00[AMR][1000 genomes]
rs72932027	1.00[AMR][1000 genomes]
rs72934235	1.00[AMR][1000 genomes]
rs72934780	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936885	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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49204200-49207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:49204200-49208000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:49204200-49208000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:49204200-49208000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:49204200-49208200	Weak transcription	HMEC	breast
6	chr3:49204400-49206000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:49204400-49207200	Weak transcription	K562	blood
8	chr3:49204400-49207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:49204400-49207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:49204400-49207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:49204400-49207600	Weak transcription	Fetal Kidney	kidney
12	chr3:49204400-49207800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:49204400-49207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:49204400-49207800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:49204400-49207800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:49204400-49207800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:49204400-49207800	Weak transcription	Fetal Lung	lung
18	chr3:49204400-49207800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:49204400-49207800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:49204400-49208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:49204400-49208000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:49204400-49208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:49204400-49208000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:49204400-49208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:49204400-49208000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:49204400-49208000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:49204400-49208000	Weak transcription	Adipose Nuclei	Adipose
28	chr3:49204400-49208000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:49204400-49208000	Weak transcription	NHDF-Ad	bronchial
30	chr3:49204400-49208000	Weak transcription	NHLF	lung
31	chr3:49204400-49208000	Weak transcription	Osteobl	bone
32	chr3:49204400-49208200	Weak transcription	Primary T cells from cord blood	blood
33	chr3:49204400-49208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:49204400-49208200	Weak transcription	Right Ventricle	heart
35	chr3:49204400-49208200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:49204400-49208200	Weak transcription	Small Intestine	intestine
37	chr3:49204400-49208200	Weak transcription	A549	lung
38	chr3:49204400-49208200	Weak transcription	HSMM	muscle
39	chr3:49204400-49208200	Weak transcription	HSMMtube	muscle
40	chr3:49204400-49208200	Weak transcription	NH-A	brain
41	chr3:49204400-49208200	Weak transcription	NHEK	skin
42	chr3:49204400-49208400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:49204400-49208400	Weak transcription	Left Ventricle	heart
44	chr3:49204400-49208400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr3:49204400-49208600	Weak transcription	Right Atrium	heart
46	chr3:49204600-49207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:49204600-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:49204600-49207600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:49204600-49207600	Weak transcription	Spleen	Spleen
50	chr3:49204600-49207800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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