Variant report

Variant	rs7721025
Chromosome Location	chr5:70896128-70896129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:
2	chr5:70881577..70886916-chr5:70891929..70900227,16	MCF-7	breast:
3	chr5:70895778..70897712-chr9:33164777..33166859,2	MCF-7	breast:
4	chr5:70889920..70891594-chr5:70895100..70896727,2	K562	blood:
5	chr5:70883126..70884922-chr5:70895512..70898133,2	K562	blood:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6452796	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453021	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7378819	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711253	0.93[EUR][1000 genomes];1.00[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7721025	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70883800-70896400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:70883800-70906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:70884000-70896200	Weak transcription	Fetal Kidney	kidney
5	chr5:70884000-70896200	Weak transcription	NHDF-Ad	bronchial
6	chr5:70884000-70896200	Weak transcription	NHLF	lung
7	chr5:70884000-70900000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:70884600-70906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:70884800-70896400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:70884800-70896400	Weak transcription	Stomach Mucosa	stomach
11	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
12	chr5:70885200-70896400	Weak transcription	Fetal Heart	heart
13	chr5:70885200-70899600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:70885400-70896600	Weak transcription	Psoas Muscle	Psoas
15	chr5:70885400-70896600	Weak transcription	K562	blood
16	chr5:70885400-70899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:70885800-70896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:70886200-70896600	Weak transcription	Small Intestine	intestine
19	chr5:70887000-70896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:70888600-70900400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:70888600-70901000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:70888800-70896400	Strong transcription	Liver	Liver
23	chr5:70889000-70897000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:70889600-70896200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:70889600-70896400	Strong transcription	Dnd41	blood
26	chr5:70889600-70896600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:70889800-70900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:70890400-70900400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:70891400-70896200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:70891400-70897200	Strong transcription	Fetal Thymus	thymus
31	chr5:70891400-70900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:70891400-70900400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:70891400-70900400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:70892000-70896200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:70892000-70896200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr5:70892000-70896600	Strong transcription	Adipose Nuclei	Adipose
37	chr5:70892000-70896600	Strong transcription	Left Ventricle	heart
38	chr5:70892000-70896600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:70892000-70896600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:70892000-70896800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:70892000-70897000	Strong transcription	Placenta	Placenta
42	chr5:70892000-70900200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr5:70892000-70900400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:70892000-70900400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr5:70892000-70900400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:70892000-70900400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:70892000-70900400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:70892000-70900400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:70892200-70896200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:70892200-70896400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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