Variant report

Variant	rs189128992
Chromosome Location	chr12:57401046-57401047
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	CTCF	chr12:57400940-57401090	GM12866	blood:	n/a	n/a
2	CTCF	chr12:57400980-57401130	GM12872	blood:	n/a	n/a
3	CTCF	chr12:57400920-57401070	AG09319	gingival:	n/a	n/a
4	CTCF	chr12:57399112-57401337	SK-N-SH	brain:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
5	CTCF	chr12:57400940-57401090	HCPEpiC	choroid plexus:	n/a	n/a
6	JUN	chr12:57400799-57403162	K562	blood:	n/a	chr12:57402275-57402284 chr12:57402190-57402201 chr12:57402275-57402282 chr12:57402379-57402388 chr12:57402274-57402284 chr12:57402274-57402283 chr12:57402274-57402284 chr12:57402273-57402285 chr12:57402276-57402287
7	CTCF	chr12:57398710-57401406	A549	lung:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770

No.	Distal block	Cell Line	Cell type
1	chr12:57400458..57402915-chr12:57407849..57410746,2	MCF-7	breast:
2	chr12:57400427..57402065-chr12:57502881..57505557,2	MCF-7	breast:
3	chr12:57079674..57082070-chr12:57399337..57401813,2	MCF-7	breast:
4	chr12:57398623..57401161-chr12:57471695..57473634,2	MCF-7	breast:
5	chr12:57393282..57404587-chr12:57480276..57487045,17	MCF-7	breast:
6	chr12:57400299..57402687-chr12:57590687..57592398,2	MCF-7	breast:
7	chr12:57400180..57401732-chr12:57514933..57516523,2	K562	blood:
8	chr12:57400522..57402479-chr12:57481021..57483071,2	K562	blood:
9	chr12:57400361..57402022-chr12:57481021..57483106,2	K562	blood:
10	chr12:57399687..57402362-chr12:57503183..57504772,2	K562	blood:
11	chr12:57143921..57145852-chr12:57400394..57401927,2	MCF-7	breast:
12	chr12:57208652..57211649-chr12:57400482..57401997,2	MCF-7	breast:
13	chr12:57400549..57402896-chr12:57450333..57452770,2	K562	blood:

Variant related genes	Relation type
ZBTB39	TF binding region
ENSG00000166881	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000166863	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000263832	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000198056	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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	103 gene(s)	inside rSNPs	diseases
4	nsv559022	chr12:57394123-57410389	Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3395929	chr12:57399110-57401658	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3377733	chr12:57399235-57401433	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57399400-57401400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57400200-57401600	Enhancers	Spleen	Spleen
3	chr12:57400200-57402000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:57400200-57402200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:57400200-57402600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:57400400-57401200	Flanking Active TSS	HepG2	liver
7	chr12:57400400-57401400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr12:57400400-57401400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr12:57400400-57402200	Weak transcription	Small Intestine	intestine
10	chr12:57400600-57401200	Enhancers	Fetal Heart	heart
11	chr12:57400600-57401200	Enhancers	Lung	lung
12	chr12:57400600-57401400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:57400600-57401400	Enhancers	Liver	Liver
14	chr12:57400600-57402000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:57400600-57402600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:57400600-57402800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:57400600-57403200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:57400800-57401200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:57400800-57401200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:57400800-57401200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:57400800-57401200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:57400800-57401200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:57400800-57401200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:57400800-57401200	Enhancers	Fetal Intestine Large	intestine
25	chr12:57400800-57401200	Enhancers	Fetal Stomach	stomach
26	chr12:57400800-57401200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:57400800-57401200	Enhancers	A549	lung
28	chr12:57400800-57401400	Enhancers	Fetal Thymus	thymus
29	chr12:57400800-57401600	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:57400800-57401600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:57400800-57401600	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:57400800-57401600	Weak transcription	Hela-S3	cervix
33	chr12:57400800-57401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:57400800-57401800	Weak transcription	Fetal Kidney	kidney
35	chr12:57400800-57402200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:57400800-57402200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:57400800-57402200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:57400800-57402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:57400800-57402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:57400800-57402200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:57400800-57402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:57400800-57402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:57400800-57402200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:57400800-57402200	Weak transcription	HSMMtube	muscle
45	chr12:57400800-57402400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:57400800-57402400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:57400800-57402400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:57400800-57402400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:57400800-57402400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:57400800-57402400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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