Variant report

Variant	rs7722
Chromosome Location	chr12:51455404-51455405
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51397911..51399672-chr12:51455134..51457857,2	K562	blood:
2	chr12:51440583..51444061-chr12:51452088..51456388,5	K562	blood:
3	chr12:51455333..51457534-chr12:51459088..51463413,4	MCF-7	breast:
4	chr12:51455311..51458345-chr12:51468783..51473236,4	MCF-7	breast:
5	chr12:51445938..51449687-chr12:51452701..51455734,3	MCF-7	breast:
6	chr12:51453861..51455456-chr12:51525275..51527997,2	K562	blood:
7	chr12:51451364..51452891-chr12:51454083..51456493,2	K562	blood:
8	chr12:51439067..51445190-chr12:51449547..51456560,11	K562	blood:
9	chr12:51444294..51447069-chr12:51453786..51456012,3	MCF-7	breast:
10	chr12:51454787..51458558-chr12:51465408..51467786,3	K562	blood:
11	chr12:51455401..51458794-chr12:51474622..51478324,3	MCF-7	breast:
12	chr12:51453815..51455715-chr12:51610035..51612636,2	K562	blood:
13	chr12:51454870..51461450-chr12:51474103..51478804,12	K562	blood:
14	chr12:51454963..51457424-chr12:51632636..51634158,2	K562	blood:
15	chr12:51397911..51399946-chr12:51454422..51457857,3	K562	blood:
16	chr12:51444211..51450639-chr12:51451105..51456750,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1112391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169689	0.92[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169690	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11169691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169692	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17122760	0.84[CEU][hapmap]
rs2018022	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3190077	0.90[JPT][hapmap]
rs3751275	0.85[JPT][hapmap]
rs55938119	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66781280	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7398021	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs970097	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51443600-51457400	Weak transcription	Fetal Brain Male	brain
4	chr12:51443600-51459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:51443600-51462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51443800-51455600	Weak transcription	Fetal Heart	heart
7	chr12:51443800-51462600	Strong transcription	A549	lung
8	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
9	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
13	chr12:51444400-51462800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:51444400-51464800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:51444600-51455600	Strong transcription	Fetal Intestine Small	intestine
16	chr12:51445000-51467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:51445400-51462600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:51445400-51462600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:51445400-51462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:51445400-51462800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:51445400-51464000	Strong transcription	Fetal Intestine Large	intestine
22	chr12:51445400-51467800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:51445400-51467800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:51445400-51469200	Strong transcription	Fetal Thymus	thymus
25	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:51445600-51456000	Strong transcription	Liver	Liver
27	chr12:51445600-51462400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:51445600-51462800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr12:51445600-51462800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:51445600-51462800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:51445600-51462800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:51445600-51462800	Strong transcription	Primary T cells from cord blood	blood
33	chr12:51445600-51463000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:51445600-51463000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:51445600-51463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:51445600-51465200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:51445600-51467400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:51445600-51467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:51445600-51467800	Strong transcription	Adipose Nuclei	Adipose
40	chr12:51445600-51468000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:51445600-51468400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:51445600-51469200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:51445600-51469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:51445600-51470400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:51445600-51470600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:51445800-51462600	Strong transcription	Brain Anterior Caudate	brain
47	chr12:51445800-51462800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:51445800-51468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:51445800-51468400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:51446000-51462800	Strong transcription	Dnd41	blood

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