Variant report

Variant	rs572055012
Chromosome Location	chr12:57400662-57400663
allele	-/TTGT
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	chr12:57399681-57400813	K562	blood:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
2	TAF1	chr12:57399971-57400715	ECC-1	luminal epithelium:	n/a	n/a
3	RUNX3	chr12:57400547-57400855	GM12878	blood:	n/a	n/a
4	CTCF	chr12:57400168-57400810	K562	blood:	n/a	n/a
5	CTCF	chr12:57399770-57400738	GM12878	blood:	n/a	chr12:57399931-57399949
6	CTCF	chr12:57399860-57400897	K562	blood:	n/a	chr12:57399931-57399949
7	FOXM1	chr12:57400204-57400783	GM12878	blood:	n/a	n/a
8	CTCF	chr12:57400100-57400721	HepG2	liver:	n/a	n/a
9	RUNX3	chr12:57400062-57400809	GM12878	blood:	n/a	n/a
10	CTCF	chr12:57400620-57400770	AG10803	skin:	n/a	n/a
11	CTCF	chr12:57400620-57400770	GM06990	blood:	n/a	n/a
12	CTCF	chr12:57400600-57400750	RPTEC	kidney:	n/a	n/a
13	CTCF	chr12:57400221-57400758	GM10266	blood:	n/a	n/a
14	CTCF	chr12:57400600-57400750	HEEpiC	esophagus:	n/a	n/a
15	ZBTB7A	chr12:57400262-57400745	K562	blood:	n/a	n/a
16	ZBTB7A	chr12:57399768-57400731	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr12:57399112-57401337	SK-N-SH	brain:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
18	CTCF	chr12:57400075-57400876	HCT-116	colon:	n/a	n/a
19	CTCF	chr12:57399686-57400684	K562	blood:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
20	FOXM1	chr12:57400204-57400795	GM12878	blood:	n/a	n/a
21	CTCF	chr12:57400540-57400690	NHDF-neo	bronchial:	n/a	n/a
22	STAT5A	chr12:57400339-57400789	GM12878	blood:	n/a	n/a
23	CTCF	chr12:57399687-57401028	HCT-116	colon:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
24	CTCF	chr12:57400520-57400670	HAc	cerebellar:	n/a	n/a
25	CTCF	chr12:57400166-57400739	A549	lung:	n/a	n/a
26	CTCF	chr12:57399752-57400934	MCF-7	breast:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
27	CTCF	chr12:57400193-57400678	HepG2	liver:	n/a	n/a
28	ZBTB7A	chr12:57399633-57400818	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr12:57400560-57400710	HAc	cerebellar:	n/a	n/a
30	CTCF	chr12:57400155-57400707	T-47D	breast:	n/a	n/a
31	MAZ	chr12:57399151-57400961	IMR90	lung:	n/a	n/a
32	CTCF	chr12:57398710-57401406	A549	lung:	n/a	chr12:57399761-57399770 chr12:57399931-57399949 chr12:57399757-57399770
33	CTCF	chr12:57400243-57400760	GM10248	blood:	n/a	n/a
34	CTCF	chr12:57399818-57400719	IMR90	lung:	n/a	chr12:57399931-57399949
35	CTCF	chr12:57400209-57400903	MCF-7	breast:	n/a	n/a

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	chr12:57398945..57400725-chr12:57479656..57482846,3	MCF-7	breast:
4	chr12:57079674..57082070-chr12:57399337..57401813,2	MCF-7	breast:
5	chr12:57398623..57401161-chr12:57471695..57473634,2	MCF-7	breast:
6	chr12:57400251..57400827-chr12:57454532..57455160,2	MCF-7	breast:
7	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
8	chr12:57393282..57404587-chr12:57480276..57487045,17	MCF-7	breast:
9	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:
10	chr12:57400299..57402687-chr12:57590687..57592398,2	MCF-7	breast:
11	chr12:57400180..57401732-chr12:57514933..57516523,2	K562	blood:
12	chr12:57400522..57402479-chr12:57481021..57483071,2	K562	blood:
13	chr12:57400361..57402022-chr12:57481021..57483106,2	K562	blood:
14	chr12:57400260..57400857-chr17:59486758..59487383,2	MCF-7	breast:
15	chr12:57399976..57400833-chr12:57424825..57425490,2	MCF-7	breast:
16	chr12:56709311..56709830-chr12:57399980..57400910,2	MCF-7	breast:
17	chr12:57399687..57402362-chr12:57503183..57504772,2	K562	blood:
18	chr12:57143921..57145852-chr12:57400394..57401927,2	MCF-7	breast:
19	chr12:57208652..57211649-chr12:57400482..57401997,2	MCF-7	breast:
20	chr12:57400549..57402896-chr12:57450333..57452770,2	K562	blood:

Variant related genes	Relation type
ZBTB39	TF binding region
ENSG00000110958	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000166866	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000263832	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000166863	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166881	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57398600-57400800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:57399000-57400800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:57399000-57400800	Active TSS	HSMM	muscle
4	chr12:57399200-57400800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:57399200-57400800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:57399200-57400800	Active TSS	Left Ventricle	heart
7	chr12:57399200-57400800	Active TSS	Ovary	ovary
8	chr12:57399200-57400800	Active TSS	HSMMtube	muscle
9	chr12:57399200-57401000	Enhancers	Stomach Mucosa	stomach
10	chr12:57399400-57400800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:57399400-57400800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:57399400-57401000	Active TSS	Brain Hippocampus Middle	brain
13	chr12:57399400-57401400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57399600-57400800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:57399600-57400800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:57399600-57400800	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:57399600-57400800	Active TSS	HMEC	breast
18	chr12:57399600-57400800	Active TSS	NHEK	skin
19	chr12:57399600-57401000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:57399800-57401000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:57399800-57401000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:57400200-57400800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:57400200-57401600	Enhancers	Spleen	Spleen
24	chr12:57400200-57402000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:57400200-57402200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:57400200-57402600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:57400400-57400800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:57400400-57400800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:57400400-57400800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:57400400-57400800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr12:57400400-57400800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr12:57400400-57400800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:57400400-57400800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:57400400-57400800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:57400400-57400800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:57400400-57400800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:57400400-57400800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr12:57400400-57400800	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr12:57400400-57400800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr12:57400400-57400800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr12:57400400-57400800	Flanking Active TSS	Placenta	Placenta
42	chr12:57400400-57400800	Flanking Active TSS	Fetal Thymus	thymus
43	chr12:57400400-57400800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:57400400-57400800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:57400400-57400800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:57400400-57400800	Flanking Active TSS	Dnd41	blood
47	chr12:57400400-57400800	Flanking Active TSS	K562	blood
48	chr12:57400400-57400800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:57400400-57401000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:57400400-57401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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