Variant report

Variant	rs73225023
Chromosome Location	chr12:121127914-121127915
allele	C/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:7)
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	WRNIP1	chr12:121127729-121128331	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121126318..121128176-chr12:121135786..121137880,3	MCF-7	breast:
2	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
3	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
4	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
5	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
6	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:
7	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:

No data

Variant related genes	Relation type
MLEC	TF binding region
ENSG00000256364	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000167272	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56091449	0.96[EUR][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222778	1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[ASN][1000 genomes]
rs73222786	1.00[ASN][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225026	0.96[EUR][1000 genomes]
rs73225027	0.96[EUR][1000 genomes]
rs73225031	0.96[EUR][1000 genomes]
rs73225032	0.96[EUR][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73227016	1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[ASN][1000 genomes]
rs8295	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3498619	chr12:121124863-121129114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3498630	chr12:121124863-121129114	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr12:121125600-121128000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr12:121126000-121128000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:121126000-121128000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr12:121126000-121129000	Enhancers	Spleen	Spleen
5	chr12:121126200-121130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:121126800-121128000	Flanking Active TSS	Fetal Intestine Large	intestine
7	chr12:121126800-121128200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:121126800-121128200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:121126800-121128600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:121126800-121129600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:121126800-121131000	Enhancers	Placenta	Placenta
12	chr12:121127000-121128000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:121127000-121128000	Enhancers	Primary B cells from cord blood	blood
14	chr12:121127000-121128000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr12:121127000-121128200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:121127000-121129000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:121127000-121131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121127200-121128000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:121127200-121128000	Enhancers	Fetal Muscle Leg	muscle
20	chr12:121127200-121128000	Genic enhancers	Fetal Stomach	stomach
21	chr12:121127200-121128400	Genic enhancers	Primary T cells from cord blood	blood
22	chr12:121127200-121128800	Enhancers	Brain Angular Gyrus	brain
23	chr12:121127200-121129000	Enhancers	Thymus	Thymus
24	chr12:121127200-121131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:121127400-121128000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:121127400-121128400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:121127400-121128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:121127400-121128800	Enhancers	Lung	lung
29	chr12:121127400-121128800	Enhancers	Ovary	ovary
30	chr12:121127400-121129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:121127400-121129600	Enhancers	Gastric	stomach
32	chr12:121127400-121130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:121127400-121130200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:121127400-121130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:121127400-121131000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:121127400-121131800	Weak transcription	Fetal Brain Female	brain
37	chr12:121127600-121128000	Active TSS	Right Ventricle	heart
38	chr12:121127600-121128000	Enhancers	Stomach Smooth Muscle	stomach
39	chr12:121127600-121128000	Genic enhancers	NHEK	skin
40	chr12:121127600-121128200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121127600-121128200	Enhancers	Fetal Kidney	kidney
42	chr12:121127600-121128200	Enhancers	HUVEC	blood vessel
43	chr12:121127600-121128400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:121127600-121128400	Active TSS	Right Atrium	heart
45	chr12:121127600-121128400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:121127600-121128400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:121127600-121128600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:121127600-121128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:121127600-121128600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:121127600-121128600	Weak transcription	Colonic Mucosa	Colon

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