Variant report

Variant	rs3752531
Chromosome Location	chr12:121157851-121157852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr12:121157822-121157961	K562	blood:	n/a	n/a
2	CUX1	chr12:121157766-121157991	K562	blood:	n/a	n/a
3	JUND	chr12:121157709-121157937	K562	blood:	n/a	n/a
4	RCOR1	chr12:121157706-121157987	K562	blood:	n/a	n/a
5	GATA1	chr12:121156872-121159133	PBDE	blood:	n/a	chr12:121156987-121157004 chr12:121157071-121157088
6	TAL1	chr12:121157665-121158032	K562	blood:	n/a	n/a
7	TEAD4	chr12:121157583-121157976	K562	blood:	n/a	n/a
8	EP300	chr12:121157731-121157916	K562	blood:	n/a	n/a
9	BHLHE40	chr12:121157766-121157933	K562	blood:	n/a	n/a
10	ARID3A	chr12:121157795-121157983	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121093291..121095008-chr12:121156747..121158862,2	K562	blood:
2	chr12:121146870..121150709-chr12:121157675..121159696,3	MCF-7	breast:
3	chr12:121092173..121095008-chr12:121157362..121160379,3	K562	blood:
4	chr12:120984201..120985776-chr12:121156791..121158435,2	MCF-7	breast:
5	chr12:121156734..121158293-chr12:121340769..121342837,2	MCF-7	breast:
6	chr12:121157650..121161198-chr12:121163529..121166472,5	K562	blood:
7	chr12:121123639..121125451-chr12:121157117..121158712,2	MCF-7	breast:
8	chr12:121155674..121159047-chr12:121162083..121163846,4	MCF-7	breast:
9	chr12:121017670..121019248-chr12:121156331..121159030,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4700	TF binding region
ENSG00000122971	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10431385	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12311479	0.84[ASN][1000 genomes]
rs12828810	0.97[ASN][1000 genomes]
rs12829722	0.97[ASN][1000 genomes]
rs2005455	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2066938	0.97[ASN][1000 genomes]
rs2239758	0.90[ASN][1000 genomes]
rs2239760	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2948149	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021337	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3021338	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34030695	0.97[ASN][1000 genomes]
rs34734847	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35360964	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35525135	0.90[ASN][1000 genomes]
rs35599677	0.90[ASN][1000 genomes]
rs35771722	0.97[ASN][1000 genomes]
rs3999408	0.90[ASN][1000 genomes]
rs548093	0.87[EUR][1000 genomes]
rs556001	0.87[EUR][1000 genomes]
rs55730005	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273049	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57830821	0.85[ASN][1000 genomes]
rs60858026	0.90[ASN][1000 genomes]
rs6490300	0.80[EUR][1000 genomes]
rs695948	0.87[EUR][1000 genomes]
rs695949	0.84[EUR][1000 genomes]
rs696337	0.80[EUR][1000 genomes]
rs71454661	0.90[ASN][1000 genomes]
rs7306541	0.90[ASN][1000 genomes]
rs7313271	0.97[ASN][1000 genomes]
rs998727	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:121149600-121159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121150600-121158400	Strong transcription	NH-A	brain
7	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:121151000-121158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:121151000-121158200	Strong transcription	HMEC	breast
11	chr12:121151000-121161200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:121151200-121158000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:121151200-121158000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:121151200-121158000	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:121151200-121158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:121151200-121158200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr12:121151200-121158200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:121151200-121158600	Strong transcription	NHEK	skin
23	chr12:121151200-121160400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:121151200-121160600	Strong transcription	Lung	lung
25	chr12:121151200-121161200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr12:121151200-121161200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:121151200-121161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:121151200-121161200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr12:121151200-121161200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:121151200-121161200	Strong transcription	Hela-S3	cervix
31	chr12:121151200-121161200	Strong transcription	HUVEC	blood vessel
32	chr12:121151200-121161400	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:121151200-121161600	Strong transcription	Ovary	ovary
34	chr12:121151200-121161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:121151200-121162000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:121151200-121162200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121151200-121162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:121151200-121162200	Strong transcription	Brain Anterior Caudate	brain
39	chr12:121151200-121162200	Strong transcription	Fetal Thymus	thymus
40	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
43	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:121151600-121159000	Weak transcription	Right Atrium	heart
46	chr12:121151800-121158000	Strong transcription	A549	lung
47	chr12:121151800-121161200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:121151800-121162200	Strong transcription	Left Ventricle	heart
49	chr12:121151800-121162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung

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