Variant report

Variant	rs73225035
Chromosome Location	chr12:121143535-121143536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121143380-121143807	HL-60	blood:	n/a	n/a
2	POLR2A	chr12:121143481-121143680	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:121143532-121143562	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:121141631..121144439-chr12:121150820..121152579,2	K562	blood:
2	chr12:121128598..121131378-chr12:121142040..121143642,2	K562	blood:
3	chr12:121123988..121126780-chr12:121141570..121144245,2	MCF-7	breast:
4	chr12:121142047..121145691-chr12:121146142..121149647,3	MCF-7	breast:
5	chr12:121141492..121143591-chr12:121143799..121145333,2	K562	blood:
6	chr12:121142033..121143665-chr12:121146826..121149794,3	K562	blood:
7	chr12:121090915..121093239-chr12:121142651..121145027,2	K562	blood:
8	chr12:121123987..121128994-chr12:121141779..121145101,4	MCF-7	breast:
9	chr12:121141474..121145646-chr12:121146933..121152320,7	K562	blood:

No data

Variant related genes	Relation type
UNC119B	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1055070	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11556440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12424591	0.92[EUR][1000 genomes]
rs12425951	0.92[EUR][1000 genomes]
rs12426170	0.92[EUR][1000 genomes]
rs2948150	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547245	0.87[EUR][1000 genomes]
rs55739221	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55814383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913556	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55993251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56217506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232241	0.94[EUR][1000 genomes]
rs73222802	0.92[EUR][1000 genomes]
rs73225008	0.92[EUR][1000 genomes]
rs73225010	0.92[EUR][1000 genomes]
rs73225016	0.92[EUR][1000 genomes]
rs73225017	0.92[EUR][1000 genomes]
rs73225018	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73225033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73225095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
4	chr12:121132200-121143600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:121132600-121143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121135400-121147400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:121135600-121146400	Strong transcription	Fetal Intestine Small	intestine
8	chr12:121135600-121147400	Weak transcription	Fetal Brain Male	brain
9	chr12:121136000-121147600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:121136200-121147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:121136400-121147400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:121136400-121147600	Weak transcription	Stomach Mucosa	stomach
13	chr12:121136600-121147800	Weak transcription	NHDF-Ad	bronchial
14	chr12:121137200-121143600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:121137600-121143800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:121138200-121143600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:121138200-121143800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:121138200-121147600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:121138200-121147600	Weak transcription	Hela-S3	cervix
20	chr12:121138400-121147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:121138400-121147600	Weak transcription	NH-A	brain
22	chr12:121138800-121147800	Weak transcription	Small Intestine	intestine
23	chr12:121139000-121147400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:121139200-121147400	Weak transcription	Fetal Kidney	kidney
25	chr12:121139400-121147800	Weak transcription	Esophagus	oesophagus
26	chr12:121139400-121147800	Weak transcription	Psoas Muscle	Psoas
27	chr12:121139600-121147400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:121139800-121147600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:121140000-121147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:121140000-121147400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:121140000-121147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:121140000-121147400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:121140000-121147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:121140200-121147400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:121140200-121147400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:121140200-121147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:121140200-121147400	Weak transcription	K562	blood
38	chr12:121140200-121147600	Weak transcription	HMEC	breast
39	chr12:121140200-121147800	Weak transcription	HUVEC	blood vessel
40	chr12:121140400-121147600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:121140400-121147600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:121140600-121147400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:121140600-121147400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:121140600-121147600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:121140600-121147600	Weak transcription	Primary B cells from cord blood	blood
46	chr12:121140800-121147200	Weak transcription	Brain Germinal Matrix	brain
47	chr12:121140800-121147400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:121140800-121147400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:121140800-121147400	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:121140800-121147400	Weak transcription	Rectal Smooth Muscle	rectum

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