Variant report

Variant	rs62248950
Chromosome Location	chr3:47371222-47371223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47322222..47325985-chr3:47369267..47371512,3	MCF-7	breast:
2	chr3:47369756..47372126-chr3:47373023..47375340,2	K562	blood:
3	chr3:47363779..47366385-chr3:47368780..47371559,2	K562	blood:

Variant related genes	Relation type
ENSG00000114648	Chromatin interaction
ENSG00000088727	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11707038	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784714	0.87[AMR][1000 genomes]
rs1874265	1.00[ASN][1000 genomes]
rs55691981	1.00[ASN][1000 genomes]
rs56121448	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56273245	1.00[ASN][1000 genomes]
rs57249369	1.00[ASN][1000 genomes]
rs62246404	1.00[ASN][1000 genomes]
rs62246409	1.00[ASN][1000 genomes]
rs62246470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62248895	1.00[ASN][1000 genomes]
rs62248910	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079603	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47333800-47371400	Weak transcription	Psoas Muscle	Psoas
2	chr3:47356800-47382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:47357200-47374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:47358800-47387000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:47359400-47385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:47359400-47387200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:47359400-47387800	Strong transcription	Spleen	Spleen
8	chr3:47359600-47386800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:47360000-47382600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:47360000-47388200	Strong transcription	Fetal Intestine Large	intestine
11	chr3:47360400-47387000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:47360400-47388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:47360600-47387000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:47360600-47387200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:47360600-47387600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:47360600-47387600	Strong transcription	Fetal Thymus	thymus
17	chr3:47360600-47387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:47360600-47387800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:47360600-47388200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr3:47360600-47388800	Strong transcription	Primary T cells from cord blood	blood
21	chr3:47360800-47375200	Weak transcription	Fetal Heart	heart
22	chr3:47360800-47378800	Weak transcription	Fetal Kidney	kidney
23	chr3:47360800-47386800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:47360800-47388000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:47361000-47381800	Strong transcription	Dnd41	blood
26	chr3:47361000-47382800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:47361000-47387400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:47361000-47387800	Strong transcription	Brain Cingulate Gyrus	brain
29	chr3:47361000-47388000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:47361000-47388200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:47361000-47388200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr3:47361200-47372000	Strong transcription	HepG2	liver
33	chr3:47361200-47378800	Strong transcription	Fetal Muscle Leg	muscle
34	chr3:47361200-47383200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:47361200-47387600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:47361200-47388000	Strong transcription	Adipose Nuclei	Adipose
37	chr3:47361200-47388000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr3:47361400-47388000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:47361400-47389800	Weak transcription	Right Atrium	heart
40	chr3:47361800-47386600	Strong transcription	Lung	lung
41	chr3:47361800-47387400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:47361800-47388200	Strong transcription	Fetal Brain Female	brain
43	chr3:47362200-47388600	Strong transcription	Brain Germinal Matrix	brain
44	chr3:47362400-47379000	Weak transcription	Fetal Brain Male	brain
45	chr3:47362600-47371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:47362800-47371400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:47363400-47374000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:47363400-47376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:47363600-47371600	Weak transcription	HUVEC	blood vessel
50	chr3:47363600-47375800	Weak transcription	Fetal Lung	lung

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