Variant report

Variant	rs35769109
Chromosome Location	chr12:12511214-12511215
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:12510615-12511749	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:12509361-12511865	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:12509528-12511290	PBDE	blood:	n/a	n/a
4	ZNF143	chr12:12511013-12511344	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:12509442-12511869	GM18505	blood:	n/a	n/a
6	TBL1XR1	chr12:12509513-12511293	GM12878	blood:	n/a	n/a
7	POU2F2	chr12:12511059-12511789	GM12878	blood:	n/a	chr12:12511618-12511633 chr12:12511621-12511632 chr12:12511579-12511601 chr12:12511615-12511637 chr12:12511609-12511623 chr12:12511621-12511631
8	POLR2A	chr12:12510944-12511319	MCF10A-Er-Src	breast:	n/a	n/a
9	RELA	chr12:12509504-12511659	GM15510	blood:	n/a	n/a
10	TBP	chr12:12509569-12511377	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:12509351-12511855	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:12509648-12511661	GM19099	blood:	n/a	n/a
13	MXI1	chr12:12509559-12511413	GM12878	blood:	n/a	n/a
14	USF2	chr12:12510578-12511245	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr12:12509273-12511643	IMR90	lung:	n/a	chr12:12510147-12510156
16	NFIC	chr12:12509255-12511326	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:12509564-12511516	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:12509571-12511738	GM12878	blood:	n/a	n/a
19	REST	chr12:12509535-12511500	H1-neurons	neurons:	n/a	chr12:12510491-12510504
20	HCFC1	chr12:12509371-12512219	Hela-S3	cervix:	n/a	n/a
21	WRNIP1	chr12:12510502-12511649	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:12509317-12511245	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:12511048-12511227	GM12878	blood:	n/a	n/a
24	CHD1	chr12:12509523-12511862	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:12509605-12511368	MCF10A-Er-Src	breast:	n/a	n/a
26	PML	chr12:12509379-12511753	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:12509599-12511716	GM12878	blood:	n/a	n/a
28	MTA3	chr12:12509494-12511654	GM12878	blood:	n/a	n/a
29	RUNX3	chr12:12510941-12511346	GM12878	blood:	n/a	n/a
30	MAX	chr12:12509672-12511316	Hela-S3	cervix:	n/a	chr12:12510147-12510156
31	MXI1	chr12:12509424-12511764	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr12:12509331-12511860	Raji	blood:	n/a	n/a
33	POLR2A	chr12:12509588-12511214	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr12:12509630-12511733	GM12892	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12507773..12511633-chr12:12848137..12852132,5	K562	blood:
2	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
3	chr12:12419774..12421330-chr12:12508637..12511348,2	MCF-7	breast:
4	chr12:12510791..12511698-chrX:119797918..119798865,2	Hela-S3	cervix:
5	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
6	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
7	chr12:12501756..12503820-chr12:12509545..12511706,2	MCF-7	breast:
8	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
9	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
10	chr12:12509330..12511597-chr12:12874960..12877485,2	K562	blood:
11	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
12	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
13	chr12:12509229..12511438-chr12:12866532..12868285,2	MCF-7	breast:
14	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
15	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
16	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
17	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000111276	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000183150	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000070018	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	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
4	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
5	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
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509400-12511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:12509400-12511400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:12509400-12511400	Active TSS	Pancreas	Pancrea
4	chr12:12509400-12511400	Active TSS	Psoas Muscle	Psoas
5	chr12:12509400-12511600	Flanking Active TSS	HMEC	breast
6	chr12:12509400-12511800	Active TSS	Right Atrium	heart
7	chr12:12509600-12511400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:12509600-12511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:12509600-12511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:12509600-12511400	Active TSS	Colonic Mucosa	Colon
11	chr12:12509600-12511400	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:12509600-12511400	Active TSS	HSMM	muscle
13	chr12:12509600-12511400	Active TSS	NHDF-Ad	bronchial
14	chr12:12509600-12511600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:12509600-12511600	Active TSS	Aorta	Aorta
16	chr12:12509600-12511600	Active TSS	Brain Angular Gyrus	brain
17	chr12:12509800-12511400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:12509800-12511400	Active TSS	Esophagus	oesophagus
19	chr12:12509800-12511800	Active TSS	GM12878-XiMat	blood
20	chr12:12509800-12511800	Active TSS	K562	blood
21	chr12:12510000-12511600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:12510200-12511400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr12:12510200-12511600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:12510400-12511400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:12510400-12511400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:12510400-12511600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:12510400-12511600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr12:12510400-12511600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:12510400-12511600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:12510400-12512200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr12:12510600-12511400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr12:12510600-12511400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:12510600-12511400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:12510600-12511400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:12510600-12511400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr12:12510600-12511400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:12510600-12511400	Flanking Active TSS	HUVEC	blood vessel
38	chr12:12510600-12511400	Flanking Active TSS	NHLF	lung
39	chr12:12510600-12511600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:12510600-12511600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:12510600-12511600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:12510600-12511600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:12510600-12511600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:12510600-12511600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:12510600-12511800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr12:12510600-12511800	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:12510800-12511400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr12:12510800-12511400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:12510800-12511400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:12510800-12511400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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