Variant report

Variant	rs193260575
Chromosome Location	chr12:57336015-57336016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57326664..57330911-chr12:57334392..57337503,4	K562	blood:
2	chr12:57319841..57322040-chr12:57335776..57337907,3	MCF-7	breast:
3	chr12:57328840..57330584-chr12:57335451..57337263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170426	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv1043846	chr12:57323709-57377509	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv12940	chr12:57331182-57379580	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv1051116	chr12:57331370-57380365	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv10544	chr12:57331527-57352203	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv559019	chr12:57331741-57377509	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv899108	chr12:57331741-57377509	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv899109	chr12:57331741-57381259	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv436148	chr12:57331980-57377764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3394817	chr12:57334133-57378642	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv512276	chr12:57334563-57379261	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3387082	chr12:57334915-57379407	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv975650	chr12:57335427-57376693	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv2760274	chr12:57335481-57377509	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv2761077	chr12:57335481-57377509	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	nsv973962	chr12:57335927-57377803	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57334600-57336400	Enhancers	HMEC	breast
2	chr12:57335000-57336200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:57335000-57336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:57335000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:57335000-57336400	Enhancers	HSMM	muscle
7	chr12:57335000-57337200	Enhancers	Liver	Liver
8	chr12:57335200-57336200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:57335200-57336200	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:57335200-57336200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:57335200-57336200	Enhancers	Colon Smooth Muscle	Colon
12	chr12:57335200-57336200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:57335200-57336200	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:57335200-57336200	Enhancers	Spleen	Spleen
15	chr12:57335200-57336200	Flanking Active TSS	A549	lung
16	chr12:57335200-57336200	Flanking Active TSS	HepG2	liver
17	chr12:57335200-57336200	Enhancers	NHDF-Ad	bronchial
18	chr12:57335200-57336200	Enhancers	NHLF	lung
19	chr12:57335200-57336400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:57335200-57336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:57335200-57336400	Enhancers	Esophagus	oesophagus
22	chr12:57335200-57336400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:57335200-57336400	Enhancers	Fetal Intestine Large	intestine
24	chr12:57335200-57336400	Enhancers	HSMMtube	muscle
25	chr12:57335200-57336400	Enhancers	K562	blood
26	chr12:57335400-57336200	Enhancers	Fetal Muscle Leg	muscle
27	chr12:57335400-57337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:57335600-57349200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:57335800-57336200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:57335800-57336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:57335800-57336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:57335800-57336200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:57335800-57336200	Enhancers	Hela-S3	cervix
34	chr12:57335800-57336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:57335800-57336400	Enhancers	GM12878-XiMat	blood
36	chr12:57335800-57336400	Enhancers	NHEK	skin
37	chr12:57336000-57336400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:57336000-57336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:57336000-57336400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:57336000-57341800	Weak transcription	Ovary	ovary
41	chr12:57336000-57347400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:57336000-57348400	Weak transcription	Brain Angular Gyrus	brain

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