Variant report

Variant	rs4758689
Chromosome Location	chr12:122611004-122611005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122610999-122611095	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122515765..122517447-chr12:122610871..122613524,2	MCF-7	breast:
2	chr12:122610093..122613162-chr12:122619277..122622905,4	K562	blood:
3	chr12:122609634..122612105-chr12:122631244..122633897,2	K562	blood:
4	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
5	chr12:122468573..122470930-chr12:122610442..122612182,2	MCF-7	breast:
6	chr12:122499812..122502771-chr12:122608974..122611870,4	MCF-7	breast:

No data

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000255856	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000256546	Chromatin interaction

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

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

rs_ID	r²[population]
rs1043763	0.89[EUR][1000 genomes]
rs1043764	0.89[EUR][1000 genomes]
rs10847689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043307	0.95[CEU][hapmap]
rs11057403	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11057509	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299752	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2017594	0.94[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28478029	0.91[EUR][1000 genomes]
rs28622891	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28643366	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28707600	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36045144	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741452	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132932	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4132933	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73217773	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73219860	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9668430	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
5	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
7	chr12:122604400-122611200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:122606400-122611200	Enhancers	Fetal Muscle Leg	muscle
9	chr12:122607400-122611600	Enhancers	Liver	Liver
10	chr12:122607800-122611800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:122608000-122612800	Weak transcription	Fetal Brain Male	brain
12	chr12:122608200-122611600	Weak transcription	Fetal Heart	heart
13	chr12:122608200-122611800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:122608200-122612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:122608200-122612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:122608200-122612000	Enhancers	A549	lung
17	chr12:122608200-122612200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:122608200-122612200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:122608200-122612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:122608200-122613200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:122608200-122618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:122608200-122618800	Weak transcription	GM12878-XiMat	blood
23	chr12:122608400-122611200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:122608400-122611200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:122608400-122611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:122608400-122611600	Enhancers	Colon Smooth Muscle	Colon
27	chr12:122608400-122611800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:122608400-122611800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:122608400-122611800	Weak transcription	Dnd41	blood
30	chr12:122608400-122612000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122608400-122612000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:122608400-122612000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:122608400-122612000	Weak transcription	Fetal Brain Female	brain
34	chr12:122608400-122612200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:122608400-122612200	Weak transcription	Left Ventricle	heart
36	chr12:122608400-122612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:122608400-122612400	Weak transcription	HUVEC	blood vessel
38	chr12:122608400-122612600	Weak transcription	Small Intestine	intestine
39	chr12:122608400-122613000	Weak transcription	NHLF	lung
40	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:122608600-122611600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:122608600-122611800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:122608600-122611800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:122608600-122612000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:122608600-122612200	Weak transcription	Esophagus	oesophagus
46	chr12:122608600-122612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:122608600-122612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:122608600-122612800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:122608600-122612800	Weak transcription	Hela-S3	cervix
50	chr12:122608600-122613000	Weak transcription	HMEC	breast

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