Variant report

Variant	rs575245023
Chromosome Location	chr12:105584407-105584408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:105584059-105586826	K562	blood:	n/a	n/a
2	POLR2A	chr12:105584164-105585980	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:105583641-105584682	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:105584312-105584664	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:105584207-105584573	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:105584309-105584664	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
APPL2	TF binding region

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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv870352	chr12:105557770-105589263	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
2	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:105558200-105587200	Weak transcription	Psoas Muscle	Psoas
4	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:105561400-105598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:105568000-105589400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:105571400-105617800	Weak transcription	K562	blood
8	chr12:105576000-105593200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr12:105576000-105595600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105576400-105585600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:105576400-105606000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:105577000-105607200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:105577200-105587400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:105577200-105589400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:105577200-105592200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:105577400-105592800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:105577400-105593600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:105577600-105589200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:105577800-105585600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr12:105577800-105585800	Strong transcription	Brain Anterior Caudate	brain
22	chr12:105577800-105586400	Strong transcription	Brain Substantia Nigra	brain
23	chr12:105577800-105586800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:105577800-105589600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:105577800-105591200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:105577800-105591400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:105577800-105592200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:105577800-105592600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:105577800-105593400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:105577800-105594200	Strong transcription	Fetal Intestine Large	intestine
31	chr12:105577800-105594400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:105577800-105595200	Strong transcription	Left Ventricle	heart
33	chr12:105577800-105598600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:105577800-105598800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:105577800-105599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:105577800-105602600	Strong transcription	Fetal Thymus	thymus
37	chr12:105577800-105603600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:105577800-105605400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:105577800-105605600	Strong transcription	Primary B cells from cord blood	blood
40	chr12:105577800-105607400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:105578000-105585800	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:105578000-105586200	Strong transcription	HUVEC	blood vessel
43	chr12:105578000-105586400	Strong transcription	Adipose Nuclei	Adipose
44	chr12:105578000-105588600	Strong transcription	Liver	Liver
45	chr12:105578000-105589400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:105578000-105589400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:105578000-105590800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:105578000-105593000	Strong transcription	Osteobl	bone
49	chr12:105578000-105593400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:105578000-105593400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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