Variant report

Variant	rs7125744
Chromosome Location	chr11:76153481-76153482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:76153181-76153925	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:76152708-76157183	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76124499..76126640-chr11:76152855..76155406,3	MCF-7	breast:
2	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
3	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
4	chr11:76096828..76101087-chr11:76152871..76156603,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIR-1	chr11:76152384-76155841	NONHSAT023169
2	lnc-PRKRIR-1	chr11:76153117-76155724	ENSG00000255135.2

No data

Variant related genes	Relation type
C11orf30	TF binding region
ENSG00000179240	Chromatin interaction
ENSG00000272301	Chromatin interaction
ENSG00000137492	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10736806	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10736807	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10736808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793162	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793168	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899214	0.90[ASN][1000 genomes]
rs3753052	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3758714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3758717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4531498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944109	1.00[AMR][1000 genomes]
rs4945089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592637	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114796	0.81[ASN][1000 genomes]
rs7119444	0.86[JPT][hapmap]
rs7925129	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938584	1.00[EUR][1000 genomes]
rs7945460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	esv2760197	chr11:76143019-76153868	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76144000-76154000	Weak transcription	Left Ventricle	heart
2	chr11:76145600-76153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:76147600-76154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:76148000-76154400	Weak transcription	HSMM	muscle
5	chr11:76148200-76154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:76148600-76154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:76148600-76154200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:76148600-76154400	Weak transcription	Right Ventricle	heart
9	chr11:76149200-76154400	Weak transcription	Spleen	Spleen
10	chr11:76149600-76153600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:76149600-76153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:76149600-76154000	Weak transcription	Fetal Thymus	thymus
13	chr11:76150000-76154200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:76150000-76154400	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:76150800-76153800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:76150800-76153800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:76150800-76154400	Weak transcription	Fetal Kidney	kidney
18	chr11:76151000-76154000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:76151000-76154200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:76151000-76154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:76151200-76154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:76151200-76154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:76151200-76154200	Weak transcription	Brain Angular Gyrus	brain
24	chr11:76151200-76154200	Weak transcription	HUVEC	blood vessel
25	chr11:76151400-76154200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:76151400-76154400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:76151400-76154400	Weak transcription	Primary B cells from cord blood	blood
28	chr11:76151600-76153600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:76151600-76154400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr11:76151800-76154200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:76151800-76154600	Weak transcription	Placenta	Placenta
32	chr11:76152000-76153600	Weak transcription	Hela-S3	cervix
33	chr11:76152000-76153800	Weak transcription	Small Intestine	intestine
34	chr11:76152000-76154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:76152000-76154200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:76152000-76154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:76152000-76154400	Weak transcription	Liver	Liver
38	chr11:76152000-76154400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:76152000-76154400	Weak transcription	Psoas Muscle	Psoas
40	chr11:76152000-76154600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:76152000-76154600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:76152000-76155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:76152200-76154200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:76152200-76154200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:76152200-76154400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:76152200-76154400	Weak transcription	NHLF	lung
47	chr11:76152600-76153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:76152600-76153600	Strong transcription	NHEK	skin
49	chr11:76152600-76154400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:76152800-76153600	Enhancers	Fetal Heart	heart

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