Variant report

Variant	rs563085282
Chromosome Location	chr12:12507084-12507085
allele	A/G
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	UBTF	chr12:12506919-12507151	K562	blood:	n/a	n/a
2	STAT5A	chr12:12506642-12507185	K562	blood:	n/a	chr12:12506710-12506722 chr12:12506897-12506912
3	SRF	chr12:12506671-12507153	K562	blood:	n/a	n/a
4	NR2F2	chr12:12506704-12507141	K562	blood:	n/a	n/a
5	GATA1	chr12:12506572-12507231	PBDE	blood:	n/a	chr12:12506843-12506860 chr12:12506917-12506927 chr12:12506942-12506953
6	ATF1	chr12:12506808-12507158	K562	blood:	n/a	n/a
7	STAT5A	chr12:12506702-12507103	K562	blood:	n/a	chr12:12506710-12506722 chr12:12506897-12506912
8	TBL1XR1	chr12:12506638-12507170	K562	blood:	n/a	n/a
9	TAL1	chr12:12506679-12507205	K562	blood:	n/a	n/a
10	POLR2A	chr12:12506848-12507162	K562	blood:	n/a	n/a
11	CBX3	chr12:12506807-12507195	K562	blood:	n/a	n/a
12	RCOR1	chr12:12506639-12507166	K562	blood:	n/a	n/a
13	RCOR1	chr12:12506694-12507241	K562	blood:	n/a	n/a
14	MYC	chr12:12506756-12507227	K562	blood:	n/a	n/a
15	ELK1	chr12:12506667-12507129	K562	blood:	n/a	n/a
16	EP300	chr12:12506708-12507263	K562	blood:	n/a	chr12:12506907-12506921
17	BHLHE40	chr12:12506759-12507279	K562	blood:	n/a	n/a
18	MAZ	chr12:12506865-12507175	K562	blood:	n/a	n/a
19	ARID3A	chr12:12506748-12507137	K562	blood:	n/a	n/a
20	TBP	chr12:12506822-12507230	K562	blood:	n/a	n/a
21	NFYB	chr12:12506747-12507230	K562	blood:	n/a	n/a
22	TEAD4	chr12:12506642-12507151	K562	blood:	n/a	n/a
23	ELF1	chr12:12506742-12507121	K562	blood:	n/a	chr12:12506905-12506918
24	JUND	chr12:12506686-12507217	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
2	chr12:12502767..12504788-chr12:12506780..12508303,2	MCF-7	breast:
3	chr12:12500672..12504766-chr12:12505204..12507584,5	K562	blood:
4	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:

Variant related genes	Relation type
MANSC1	TF binding region
LOH12CR1	TF binding region
ENSG00000111261	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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898809	chr12:12488067-12509314	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12503600-12509200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:12503600-12509400	Weak transcription	Fetal Lung	lung
3	chr12:12503800-12509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:12503800-12509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:12503800-12509200	Weak transcription	Fetal Brain Female	brain
6	chr12:12503800-12509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:12503800-12509400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:12503800-12509400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:12503800-12509400	Weak transcription	Osteobl	bone
10	chr12:12503800-12509600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:12503800-12509600	Weak transcription	Fetal Stomach	stomach
12	chr12:12503800-12509600	Weak transcription	HUVEC	blood vessel
13	chr12:12503800-12510000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:12504000-12509200	Weak transcription	GM12878-XiMat	blood
15	chr12:12504200-12508400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:12504200-12509200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:12504200-12509200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:12504200-12509200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:12504200-12509200	Weak transcription	Hela-S3	cervix
20	chr12:12504200-12509200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:12504200-12509400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:12504200-12509400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:12504200-12509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:12504200-12509400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:12504200-12509400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:12504200-12509400	Weak transcription	Pancreas	Pancrea
27	chr12:12504200-12509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12504200-12509600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:12504400-12508600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:12504400-12509400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:12504400-12509400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:12504400-12509400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:12504400-12509400	Weak transcription	Liver	Liver
34	chr12:12504400-12509400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:12504400-12509400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:12504400-12509400	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:12504400-12509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:12504400-12509400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:12504400-12509400	Weak transcription	Fetal Kidney	kidney
40	chr12:12504400-12509400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:12504400-12509400	Weak transcription	Thymus	Thymus
42	chr12:12504400-12510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:12504600-12509200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:12504600-12509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:12504600-12509200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:12504600-12509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:12504600-12509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:12504600-12509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:12504600-12509400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:12504600-12509400	Weak transcription	Stomach Mucosa	stomach

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