Variant report

Variant	rs113577453
Chromosome Location	chr12:10514617-10514618
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	CEBPB	chr12:10514223-10514644	Hela-S3	cervix:	n/a	n/a
2	KAP1	chr12:10513409-10514740	HEK293	kidney:	n/a	n/a
3	EP300	chr12:10514199-10514625	Hela-S3	cervix:	n/a	n/a
4	KAP1	chr12:10513525-10514708	U2OS	brain:	n/a	n/a
5	IRF1	chr12:10514256-10514676	K562	blood:	n/a	n/a
6	SETDB1	chr12:10514248-10514653	U2OS	brain:	n/a	n/a
7	TCF7L2	chr12:10513852-10514704	HEK293	kidney:	n/a	n/a
8	POLR2A	chr12:10514485-10514641	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000256155	TF binding region
ENSG00000245648	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10507400-10515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10508000-10515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:10511600-10516400	Weak transcription	Gastric	stomach
4	chr12:10511800-10516200	Weak transcription	Thymus	Thymus
5	chr12:10512200-10515200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:10512800-10515000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:10512800-10515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:10513000-10514800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:10513000-10515600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:10513000-10516400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:10513400-10514800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:10513400-10515400	Enhancers	HMEC	breast
13	chr12:10513400-10516200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:10513400-10517000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:10513600-10515200	Enhancers	Fetal Kidney	kidney
16	chr12:10513600-10516200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:10513600-10516400	Enhancers	Fetal Lung	lung
18	chr12:10513600-10516400	Enhancers	Osteobl	bone
19	chr12:10513600-10516600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:10513600-10516600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:10513600-10516600	Weak transcription	Aorta	Aorta
22	chr12:10513800-10514800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:10513800-10515400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:10513800-10515600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:10514000-10514800	Flanking Active TSS	K562	blood
26	chr12:10514000-10515000	Weak transcription	Fetal Stomach	stomach
27	chr12:10514000-10515000	Weak transcription	Fetal Thymus	thymus
28	chr12:10514000-10515400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:10514000-10516200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:10514000-10516200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:10514000-10516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:10514000-10516400	Weak transcription	Pancreas	Pancrea
33	chr12:10514000-10516600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:10514000-10516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:10514000-10517200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:10514200-10514800	Enhancers	A549	lung
37	chr12:10514200-10515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:10514200-10515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:10514200-10515200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:10514200-10515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:10514200-10515600	Enhancers	Fetal Intestine Small	intestine
42	chr12:10514200-10515800	Weak transcription	Brain Germinal Matrix	brain
43	chr12:10514200-10516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:10514400-10514800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:10514400-10514800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:10514400-10514800	Flanking Active TSS	NHEK	skin
47	chr12:10514400-10515200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr12:10514400-10515200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:10514400-10515400	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:10514400-10515600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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