Variant report

Variant	rs541160211
Chromosome Location	chr12:46337393-46337394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46336885..46339233-chr12:46356510..46359026,2	K562	blood:
2	chr12:46331019..46333836-chr12:46336326..46339137,3	K562	blood:
3	chr12:46331019..46334796-chr12:46336326..46339137,4	K562	blood:
4	chr12:46336095..46337852-chr12:46384217..46386151,2	K562	blood:
5	chr12:46329633..46332497-chr12:46335135..46337573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3439887	chr12:46337377-46370366	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46312200-46348600	Strong transcription	Dnd41	blood
3	chr12:46314600-46345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:46316600-46343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:46317000-46341400	Weak transcription	Gastric	stomach
6	chr12:46318800-46338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:46318800-46339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:46319200-46341400	Weak transcription	Lung	lung
9	chr12:46319200-46362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:46322400-46337400	Weak transcription	Fetal Brain Female	brain
11	chr12:46322600-46338600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:46322600-46340000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:46322600-46341400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:46322600-46341400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:46322600-46341400	Weak transcription	Pancreas	Pancrea
16	chr12:46322600-46360200	Weak transcription	Fetal Brain Male	brain
17	chr12:46322800-46338600	Weak transcription	Esophagus	oesophagus
18	chr12:46323200-46341400	Weak transcription	Colonic Mucosa	Colon
19	chr12:46323200-46341400	Weak transcription	Fetal Stomach	stomach
20	chr12:46323200-46341400	Weak transcription	Spleen	Spleen
21	chr12:46324400-46351600	Weak transcription	Psoas Muscle	Psoas
22	chr12:46325000-46341400	Weak transcription	Left Ventricle	heart
23	chr12:46325200-46343400	Weak transcription	Right Ventricle	heart
24	chr12:46326600-46338400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:46326600-46339400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:46326600-46360400	Weak transcription	Small Intestine	intestine
27	chr12:46327200-46340600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:46327800-46338600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:46327800-46340000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:46328800-46345200	Strong transcription	HSMM	muscle
31	chr12:46329200-46338400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:46329200-46351800	Weak transcription	Fetal Heart	heart
33	chr12:46329400-46337600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:46329400-46338000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:46329400-46338400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:46329400-46344400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:46329600-46341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:46329600-46342600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:46329600-46348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:46329800-46371000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:46330400-46344800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:46330400-46358800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:46331000-46338400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:46331000-46344600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:46331000-46347000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:46331200-46337400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:46331200-46338400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:46331200-46338600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:46331200-46339600	Strong transcription	Hela-S3	cervix
50	chr12:46331200-46343000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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