Variant report

Variant	rs572271247
Chromosome Location	chr12:121342773-121342774
allele	-/TGC
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	chr12:121340996-121343056	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr12:121341045-121343163	Hela-S3	cervix:	n/a	n/a
3	NRF1	chr12:121341924-121342867	SK-N-SH	brain:	n/a	chr12:121342022-121342031 chr12:121342251-121342262 chr12:121342169-121342178
4	CBX3	chr12:121342027-121342954	K562	blood:	n/a	n/a
5	SIN3A	chr12:121341099-121342872	H1-hESC	embryonic stem cell:	n/a	chr12:121341820-121341831 chr12:121342218-121342227
6	MXI1	chr12:121340581-121343068	SK-N-SH	brain:	n/a	n/a
7	REST	chr12:121341044-121342840	H1-neurons	neurons:	n/a	chr12:121342293-121342306 chr12:121342386-121342399 chr12:121342386-121342406 chr12:121342386-121342406 chr12:121342480-121342493 chr12:121342386-121342406
8	PML	chr12:121341851-121342787	GM12878	blood:	n/a	n/a
9	PBX3	chr12:121342088-121342821	A549	lung:	n/a	chr12:121342512-121342521 chr12:121342445-121342454 chr12:121342412-121342421 chr12:121342397-121342417 chr12:121342500-121342509
10	TCF12	chr12:121342037-121342831	A549	lung:	n/a	chr12:121342585-121342593
11	PBX3	chr12:121342068-121342837	SK-N-SH	brain:	n/a	chr12:121342512-121342521 chr12:121342445-121342454 chr12:121342412-121342421 chr12:121342397-121342417 chr12:121342500-121342509
12	USF1	chr12:121341877-121342853	HCT-116	colon:	n/a	chr12:121342198-121342211 chr12:121341911-121341927 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121341902-121341918 chr12:121341908-121341924 chr12:121341919-121341935 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341907-121341923 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
13	MAX	chr12:121341082-121342832	HCT-116	colon:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121341537-121341547
14	MXI1	chr12:121340253-121342852	IMR90	lung:	n/a	n/a
15	MTA3	chr12:121342182-121342775	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:121342046-121342826	GM12878	blood:	n/a	n/a
17	MYC	chr12:121341375-121342791	NB4	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121341537-121341547
18	USF1	chr12:121341842-121342776	HCT-116	colon:	n/a	chr12:121342198-121342211 chr12:121341911-121341927 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121341902-121341918 chr12:121341908-121341924 chr12:121341919-121341935 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341907-121341923 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
19	PBX3	chr12:121341995-121342773	SK-N-SH	brain:	n/a	chr12:121342512-121342521 chr12:121342445-121342454 chr12:121342412-121342421 chr12:121342397-121342417 chr12:121342500-121342509
20	POLR2A	chr12:121341843-121342790	PFSK-1	brain:	n/a	n/a
21	BACH1	chr12:121342594-121342773	K562	blood:	n/a	n/a
22	MAX	chr12:121341091-121342799	A549	lung:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121341537-121341547

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121342121..121344461-chr12:121350958..121352582,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNF1A-1	chr12:121342728-121342811	XLOC_009911

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000231313	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3374315	chr12:121340794-121343342	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3384193	chr12:121341069-121343317	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121340000-121342800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:121340000-121342800	Active TSS	NHDF-Ad	bronchial
3	chr12:121340200-121343000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:121340400-121342800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:121340600-121342800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:121340600-121342800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121340600-121342800	Active TSS	Brain Angular Gyrus	brain
9	chr12:121340600-121342800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:121340600-121342800	Active TSS	HSMM	muscle
11	chr12:121340600-121343000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:121340800-121342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:121340800-121342800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:121340800-121342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:121340800-121342800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:121340800-121342800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:121341000-121342800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:121341000-121342800	Active TSS	Brain Germinal Matrix	brain
19	chr12:121341000-121342800	Active TSS	Fetal Kidney	kidney
20	chr12:121341000-121343000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:121341200-121342800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:121341200-121342800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:121341400-121342800	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:121341400-121342800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:121341800-121342800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:121342200-121342800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr12:121342200-121342800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:121342200-121342800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:121342200-121342800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr12:121342200-121342800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr12:121342200-121342800	Flanking Active TSS	HUVEC	blood vessel
32	chr12:121342200-121342800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:121342400-121342800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr12:121342400-121342800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:121342400-121342800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:121342400-121342800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:121342400-121342800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:121342400-121342800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:121342400-121342800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:121342400-121342800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:121342400-121342800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:121342400-121342800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:121342400-121342800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:121342400-121342800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:121342400-121342800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr12:121342400-121342800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:121342400-121342800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:121342400-121342800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr12:121342400-121342800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:121342400-121342800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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