Variant report

Variant	rs542540099
Chromosome Location	chr12:121125781-121125782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121095512..121100910-chr12:121122531..121126551,5	MCF-7	breast:
2	chr12:121085946..121088715-chr12:121122622..121126229,3	K562	blood:
3	chr12:121122674..121127779-chr12:121131254..121137297,11	MCF-7	breast:
4	chr12:121125134..121127601-chr20:52821438..52823168,2	MCF-7	breast:
5	chr12:120875946..120878903-chr12:121123173..121125911,2	K562	blood:
6	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
7	chr12:120728399..120731246-chr12:121124112..121127371,3	MCF-7	breast:
8	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
9	chr12:121125051..121127006-chr12:121446339..121449228,2	MCF-7	breast:
10	chr12:121122826..121126231-chr12:121135368..121138328,4	MCF-7	breast:
11	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
12	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:
13	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
14	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
15	chr12:121020078..121022631-chr12:121125640..121127142,2	K562	blood:
16	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
17	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
18	chr12:120630041..120632673-chr12:121124063..121125965,2	MCF-7	breast:
19	chr12:121085923..121088804-chr12:121121977..121126483,5	MCF-7	breast:
20	chr10:99093772..99095545-chr12:121124812..121127214,2	MCF-7	breast:
21	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPPL3.1-4	chr12:121124950-121126702	NONHSAT031190

No data

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000225850	Chromatin interaction
ENSG00000157895	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000181274	Chromatin interaction
ENSG00000256008	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121123600-121125800	Active TSS	K562	blood
2	chr12:121123600-121126000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:121123600-121126400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:121123600-121126600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:121123600-121126600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:121123600-121126600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:121123600-121127000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:121123600-121127000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:121123800-121125800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:121123800-121125800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:121123800-121125800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:121123800-121125800	Active TSS	Brain Hippocampus Middle	brain
13	chr12:121123800-121125800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:121123800-121125800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:121123800-121125800	Active TSS	Rectal Smooth Muscle	rectum
16	chr12:121123800-121125800	Active TSS	HSMMtube	muscle
17	chr12:121123800-121126000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:121123800-121126000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:121123800-121126000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:121123800-121126000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:121123800-121126000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:121123800-121126000	Active TSS	Colon Smooth Muscle	Colon
23	chr12:121123800-121126000	Active TSS	Fetal Kidney	kidney
24	chr12:121123800-121126000	Active TSS	Right Ventricle	heart
25	chr12:121123800-121126000	Active TSS	Thymus	Thymus
26	chr12:121123800-121126200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:121123800-121126200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:121123800-121126200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:121123800-121126200	Active TSS	NHEK	skin
30	chr12:121123800-121126400	Active TSS	NHLF	lung
31	chr12:121123800-121126600	Active TSS	Aorta	Aorta
32	chr12:121123800-121126600	Active TSS	Left Ventricle	heart
33	chr12:121123800-121126600	Active TSS	Ovary	ovary
34	chr12:121123800-121126600	Active TSS	Psoas Muscle	Psoas
35	chr12:121123800-121126600	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:121123800-121126600	Active TSS	Small Intestine	intestine
37	chr12:121123800-121126800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:121123800-121126800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr12:121123800-121126800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:121123800-121127000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:121123800-121127000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr12:121123800-121127000	Active TSS	Pancreas	Pancrea
43	chr12:121123800-121127000	Active TSS	HSMM	muscle
44	chr12:121123800-121127200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:121123800-121127200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:121123800-121127200	Active TSS	Fetal Muscle Trunk	muscle
47	chr12:121123800-121127600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:121124000-121125800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:121124000-121125800	Active TSS	NH-A	brain
50	chr12:121124000-121125800	Active TSS	Osteobl	bone

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