Variant report

Variant	rs183546570
Chromosome Location	chr12:57482725-57482726
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	PML	chr12:57481509-57483132	MCF-7	breast:	n/a	n/a
2	TBL1XR1	chr12:57480142-57482871	GM12878	blood:	n/a	n/a
3	GATA3	chr12:57480797-57483098	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr12:57480221-57484098	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:57482701-57484170	U87	brain:	n/a	n/a
6	MAX	chr12:57481506-57483316	HepG2	liver:	n/a	chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481781-57481791 chr12:57481834-57481842 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57483153-57483163
7	POLR2A	chr12:57482156-57483151	H1-neurons	neurons:	n/a	n/a
8	MYC	chr12:57479741-57483065	K562	blood:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57480313-57480323 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183
9	EGR1	chr12:57482133-57483157	MCF-7	breast:	n/a	chr12:57482835-57482844 chr12:57482833-57482844 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482518-57482531 chr12:57482835-57482845 chr12:57482567-57482577 chr12:57482834-57482844 chr12:57482832-57482846 chr12:57482520-57482530 chr12:57482518-57482531 chr12:57482519-57482533 chr12:57482520-57482530 chr12:57482878-57482888 chr12:57482834-57482844 chr12:57482832-57482845 chr12:57482441-57482454 chr12:57482832-57482845 chr12:57482518-57482532 chr12:57482828-57482850 chr12:57482838-57482851 chr12:57482831-57482846 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482521-57482530
10	EP300	chr12:57482150-57482856	MCF-7	breast:	n/a	n/a
11	EP300	chr12:57481477-57483142	MCF-7	breast:	n/a	chr12:57482999-57483015 chr12:57481959-57481969
12	CBX3	chr12:57482722-57483106	K562	blood:	n/a	n/a
13	ESR1	chr12:57482314-57482739	ECC-1	luminal epithelium:	n/a	chr12:57482583-57482598
14	BHLHE40	chr12:57481905-57482948	HepG2	liver:	n/a	n/a
15	EGR1	chr12:57480155-57483330	ECC-1	luminal epithelium:	n/a	chr12:57482835-57482844 chr12:57480431-57480445 chr12:57481121-57481131 chr12:57481095-57481108 chr12:57482833-57482844 chr12:57481707-57481721 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57481115-57481137 chr12:57481119-57481132 chr12:57481148-57481161 chr12:57482518-57482531 chr12:57480458-57480472 chr12:57481121-57481130 chr12:57482835-57482845 chr12:57482567-57482577 chr12:57481228-57481238 chr12:57482834-57482844 chr12:57480458-57480469 chr12:57481120-57481131 chr12:57482832-57482846 chr12:57482520-57482530 chr12:57481079-57481089 chr12:57482518-57482531 chr12:57481627-57481640 chr12:57482519-57482533 chr12:57481619-57481629 chr12:57480503-57480516 chr12:57480313-57480323 chr12:57482520-57482530 chr12:57481118-57481133 chr12:57482878-57482888 chr12:57481122-57481131 chr12:57482834-57482844 chr12:57482832-57482845 chr12:57482441-57482454 chr12:57481120-57481131 chr12:57481681-57481691 chr12:57481119-57481132 chr12:57482832-57482845 chr12:57482518-57482532 chr12:57480457-57480470 chr12:57481229-57481239 chr12:57481121-57481131 chr12:57482828-57482850 chr12:57480503-57480516 chr12:57480311-57480321 chr12:57482838-57482851 chr12:57481119-57481133 chr12:57481119-57481132 chr12:57482831-57482846 chr12:57481017-57481031 chr12:57481119-57481132 chr12:57482832-57482845 chr12:57480456-57480471 chr12:57481243-57481256 chr12:57481503-57481527 chr12:57480832-57480845 chr12:57482519-57482530 chr12:57482521-57482530
16	MXI1	chr12:57480250-57483091	GM12878	blood:	n/a	chr12:57481172-57481181
17	RUNX3	chr12:57479937-57482985	GM12878	blood:	n/a	n/a
18	MAX	chr12:57482031-57483191	MCF-7	breast:	n/a	chr12:57482476-57482487 chr12:57482875-57482885 chr12:57482520-57482529 chr12:57483153-57483163
19	EGR1	chr12:57482079-57483294	ECC-1	luminal epithelium:	n/a	chr12:57482835-57482844 chr12:57482833-57482844 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482518-57482531 chr12:57482835-57482845 chr12:57482567-57482577 chr12:57482834-57482844 chr12:57482832-57482846 chr12:57482520-57482530 chr12:57482518-57482531 chr12:57482519-57482533 chr12:57482520-57482530 chr12:57482878-57482888 chr12:57482834-57482844 chr12:57482832-57482845 chr12:57482441-57482454 chr12:57482832-57482845 chr12:57482518-57482532 chr12:57482828-57482850 chr12:57482838-57482851 chr12:57482831-57482846 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482521-57482530
20	CHD2	chr12:57480787-57483232	Hela-S3	cervix:	n/a	chr12:57481233-57481243 chr12:57480976-57480986
21	RCOR1	chr12:57479770-57482970	K562	blood:	n/a	n/a
22	GATA3	chr12:57480747-57482842	A549	lung:	n/a	n/a
23	CEBPB	chr12:57481601-57482741	A549	lung:	n/a	n/a
24	SIN3AK20	chr12:57482706-57483242	SK-N-SH	brain:	n/a	n/a
25	MAX	chr12:57480765-57483350	MCF-7	breast:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183 chr12:57483153-57483163
26	POLR2A	chr12:57482711-57484052	K562	blood:	n/a	n/a
27	TAF1	chr12:57482638-57483163	K562	blood:	n/a	n/a
28	POLR2A	chr12:57480260-57484051	Hela-S3	cervix:	n/a	n/a
29	MAX	chr12:57480820-57483218	SK-N-SH	brain:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183 chr12:57483153-57483163
30	POLR2A	chr12:57479854-57483099	GM18505	blood:	n/a	n/a
31	POLR2A	chr12:57479718-57484729	K562	blood:	n/a	n/a
32	ZBTB7A	chr12:57479866-57484080	ECC-1	luminal epithelium:	n/a	chr12:57483292-57483300 chr12:57483286-57483300 chr12:57483517-57483525
33	TEAD4	chr12:57481489-57484068	K562	blood:	n/a	n/a
34	SP1	chr12:57480232-57483078	A549	lung:	n/a	chr12:57481626-57481635 chr12:57482871-57482885 chr12:57480305-57480315 chr12:57481682-57481691 chr12:57482837-57482846 chr12:57481557-57481569 chr12:57481559-57481568 chr12:57481624-57481636 chr12:57481625-57481639 chr12:57481233-57481245 chr12:57481230-57481244 chr12:57482544-57482556 chr12:57482879-57482893 chr12:57481312-57481321 chr12:57481089-57481103 chr12:57480461-57480472 chr12:57482836-57482848 chr12:57481233-57481245 chr12:57482545-57482554 chr12:57482836-57482848 chr12:57481680-57481692 chr12:57481557-57481569 chr12:57481558-57481567 chr12:57482544-57482556 chr12:57480305-57480315 chr12:57481624-57481636 chr12:57481160-57481174 chr12:57481311-57481320 chr12:57481234-57481244 chr12:57481521-57481530 chr12:57480434-57480445 chr12:57482929-57482943 chr12:57481234-57481243 chr12:57481156-57481170 chr12:57481554-57481563 chr12:57481681-57481695 chr12:57481625-57481635 chr12:57481559-57481568 chr12:57481310-57481322 chr12:57481552-57481564 chr12:57480932-57480946
35	REST	chr12:57481773-57484146	H1-neurons	neurons:	n/a	chr12:57482940-57482949 chr12:57483821-57483834 chr12:57482236-57482254
36	POLR2A	chr12:57481143-57484234	HepG2	liver:	n/a	n/a
37	EP300	chr12:57481567-57482907	K562	blood:	n/a	chr12:57481959-57481969
38	JUND	chr12:57480748-57483102	A549	lung:	n/a	chr12:57481683-57481692 chr12:57481310-57481319 chr12:57481557-57481566
39	MAZ	chr12:57480150-57483128	GM12878	blood:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57480313-57480323 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183
40	EGR1	chr12:57482119-57483001	GM12878	blood:	n/a	chr12:57482835-57482844 chr12:57482833-57482844 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482518-57482531 chr12:57482835-57482845 chr12:57482567-57482577 chr12:57482834-57482844 chr12:57482832-57482846 chr12:57482520-57482530 chr12:57482518-57482531 chr12:57482519-57482533 chr12:57482520-57482530 chr12:57482878-57482888 chr12:57482834-57482844 chr12:57482832-57482845 chr12:57482441-57482454 chr12:57482832-57482845 chr12:57482518-57482532 chr12:57482828-57482850 chr12:57482838-57482851 chr12:57482831-57482846 chr12:57482832-57482845 chr12:57482519-57482530 chr12:57482521-57482530
41	SIN3AK20	chr12:57482719-57482953	PFSK-1	brain:	n/a	n/a
42	ESR1	chr12:57482233-57482740	ECC-1	luminal epithelium:	n/a	chr12:57482583-57482598
43	POLR2A	chr12:57482634-57483161	A549	lung:	n/a	n/a
44	MAX	chr12:57480349-57483073	Hela-S3	cervix:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183
45	MAX	chr12:57480176-57484063	A549	lung:	n/a	chr12:57483827-57483837 chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57480313-57480323 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183 chr12:57483153-57483163
46	POLR2A	chr12:57482706-57483117	Gliobla	brain:	n/a	n/a
47	ELF1	chr12:57482725-57483039	K562	blood:	n/a	chr12:57482840-57482849
48	TAF1	chr12:57480312-57483296	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr12:57480727-57483256	K562	blood:	n/a	chr12:57481172-57481182 chr12:57482476-57482487 chr12:57482875-57482885 chr12:57481174-57481181 chr12:57481781-57481791 chr12:57481093-57481103 chr12:57481834-57481842 chr12:57481164-57481174 chr12:57482520-57482529 chr12:57481680-57481690 chr12:57481172-57481183 chr12:57483153-57483163
50	MTA3	chr12:57482694-57484032	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
2	chr12:57398945..57400725-chr12:57479656..57482846,3	MCF-7	breast:
3	chr12:56473732..56475652-chr12:57482023..57483860,2	MCF-7	breast:
4	chr12:57480746..57483234-chr12:57915069..57916762,2	MCF-7	breast:
5	chr12:57143938..57146732-chr12:57482240..57484256,2	MCF-7	breast:
6	chr12:57480720..57482842-chr12:58137848..58140572,2	MCF-7	breast:
7	chr12:57118003..57119898-chr12:57480309..57484526,4	K562	blood:
8	chr12:57422175..57424146-chr12:57481515..57483170,2	MCF-7	breast:
9	chr12:57022390..57024526-chr12:57480119..57483489,4	MCF-7	breast:
10	chr12:57478737..57483929-chr12:57633097..57638164,8	MCF-7	breast:
11	chr12:57479977..57484073-chr12:57519609..57523791,10	MCF-7	breast:
12	chr12:57385703..57388264-chr12:57481294..57482820,2	K562	blood:
13	chr12:57144616..57146221-chr12:57481056..57483916,2	K562	blood:
14	chr12:57482277..57484373-chr12:57520375..57523117,3	MCF-7	breast:
15	chr12:57143195..57148502-chr12:57480974..57485182,5	K562	blood:
16	chr12:56511049..56513507-chr12:57480483..57482738,2	MCF-7	breast:
17	chr12:57482695..57483331-chr12:57504703..57505426,2	Hela-S3	cervix:
18	chr12:57482682..57483842-chr12:57504945..57506039,3	MCF-7	breast:
19	chr12:57482701..57484968-chr12:57912943..57915607,2	K562	blood:
20	chr12:57026457..57031197-chr12:57479410..57483153,5	MCF-7	breast:
21	chr12:57080529..57082220-chr12:57480203..57482961,2	MCF-7	breast:
22	chr12:53319981..53321515-chr12:57482673..57484495,2	MCF-7	breast:
23	chr12:57482485..57484872-chr12:57623536..57625179,2	MCF-7	breast:
24	chr12:57117875..57121156-chr12:57480482..57484573,7	MCF-7	breast:
25	chr12:57393282..57404587-chr12:57480276..57487045,17	MCF-7	breast:
26	chr12:57480219..57483297-chr12:57622863..57624907,4	MCF-7	breast:
27	chr12:57482175..57482736-chr19:39897077..39898067,2	Hela-S3	cervix:
28	chr12:57481972..57484968-chr12:57912943..57915711,3	K562	blood:
29	chr12:57480714..57483772-chr12:57558111..57562184,3	MCF-7	breast:

Variant related genes	Relation type
NAB2	TF binding region
TMEM194A	TF binding region
ENSG00000128016	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166863	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3374301	chr12:57481510-57484058	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	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57480000-57483800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:57480000-57484000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:57480000-57484400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57480000-57484400	Active TSS	Aorta	Aorta
5	chr12:57480000-57484400	Active TSS	Left Ventricle	heart
6	chr12:57480000-57484400	Active TSS	Right Atrium	heart
7	chr12:57480000-57485200	Active TSS	Psoas Muscle	Psoas
8	chr12:57480200-57483800	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr12:57480200-57484000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:57480200-57484000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:57480200-57484000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:57480200-57484000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:57480200-57484400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:57480200-57484400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:57480200-57484400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:57480200-57484400	Active TSS	Brain Anterior Caudate	brain
17	chr12:57480200-57484400	Active TSS	Lung	lung
18	chr12:57480200-57484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:57480400-57483600	Active TSS	Spleen	Spleen
20	chr12:57480400-57483800	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:57480400-57483800	Active TSS	Small Intestine	intestine
22	chr12:57480400-57484400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:57480400-57484400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57480400-57484400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:57480400-57484400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:57480400-57484400	Active TSS	Esophagus	oesophagus
27	chr12:57480400-57484400	Active TSS	Right Ventricle	heart
28	chr12:57480400-57484600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr12:57480400-57485000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:57480600-57483600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:57480600-57483800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:57480600-57484000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:57480600-57484200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:57480600-57484400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:57480600-57484400	Active TSS	Colon Smooth Muscle	Colon
36	chr12:57480600-57484400	Active TSS	Thymus	Thymus
37	chr12:57480600-57484600	Active TSS	Ovary	ovary
38	chr12:57480800-57483600	Active TSS	Fetal Stomach	stomach
39	chr12:57480800-57483800	Active TSS	Gastric	stomach
40	chr12:57480800-57484800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:57480800-57485000	Active TSS	Fetal Kidney	kidney
42	chr12:57482200-57484200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:57482200-57484200	Active TSS	Brain Germinal Matrix	brain
44	chr12:57482200-57484400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:57482200-57484400	Active TSS	Brain Substantia Nigra	brain
46	chr12:57482200-57484400	Active TSS	HepG2	liver
47	chr12:57482200-57484600	Active TSS	NHDF-Ad	bronchial
48	chr12:57482400-57483000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:57482400-57483000	Active TSS	Primary B cells from cord blood	blood
50	chr12:57482400-57483000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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