Variant report

Variant	rs74094520
Chromosome Location	chr12:56475167-56475168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:56474547-56475230	HepG2	liver:	n/a	n/a
2	TBP	chr12:56474537-56476091	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:56474474-56476502	HepG2	liver:	n/a	n/a
4	CHD2	chr12:56475132-56475173	HepG2	liver:	n/a	n/a
5	JUN	chr12:56472560-56475297	K562	blood:	n/a	chr12:56473840-56473849 chr12:56474554-56474563 chr12:56473309-56473318
6	SIN3AK20	chr12:56472473-56475252	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:56474287-56477511	HepG2	liver:	n/a	n/a
8	HEY1	chr12:56473273-56476974	HepG2	liver:	n/a	chr12:56475908-56475917 chr12:56473338-56473353 chr12:56474557-56474572
9	MYBL2	chr12:56474398-56476264	HepG2	liver:	n/a	n/a
10	HEY1	chr12:56472632-56476252	HepG2	liver:	n/a	chr12:56475908-56475917 chr12:56473338-56473353 chr12:56474557-56474572
11	CTCF	chr12:56474940-56475210	Caco-2	colon:	n/a	n/a
12	POLR2A	chr12:56472840-56476753	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:56473297-56476833	HepG2	liver:	n/a	n/a
14	MBD4	chr12:56474393-56476276	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:56472467-56475271	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:56473325-56476141	HepG2	liver:	n/a	n/a
17	MAX	chr12:56472638-56476508	HepG2	liver:	n/a	chr12:56475908-56475917 chr12:56475907-56475918 chr12:56475909-56475916 chr12:56473390-56473397 chr12:56475321-56475331
18	NFIC	chr12:56474335-56476224	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:56472708-56476783	HepG2	liver:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56320958..56322490-chr12:56473085..56475455,2	MCF-7	breast:
2	chr12:56210626..56213378-chr12:56473835..56475955,2	MCF-7	breast:
3	chr12:56471198..56482935-chr12:56506922..56516262,73	MCF-7	breast:
4	chr12:56115014..56117802-chr12:56474351..56476164,2	MCF-7	breast:
5	chr12:56471261..56483436-chr12:56494778..56506435,58	MCF-7	breast:
6	chr12:56473848..56475749-chr15:50645471..50647773,2	MCF-7	breast:
7	chr12:56473891..56477008-chr12:56583227..56585798,3	MCF-7	breast:
8	chr12:56471332..56475358-chr12:56550630..56554454,5	MCF-7	breast:
9	chr12:56223221..56225412-chr12:56473813..56476164,2	MCF-7	breast:
10	chr12:56435072..56437678-chr12:56471264..56476125,12	MCF-7	breast:
11	chr12:56473421..56475215-chr12:56613648..56616195,2	MCF-7	breast:
12	chr12:56473103..56475967-chr12:56549779..56553082,5	MCF-7	breast:
13	chr12:56434525..56442579-chr12:56471686..56475431,10	K562	blood:
14	chr12:56471798..56475584-chr12:56544179..56549010,6	MCF-7	breast:
15	chr12:56473548..56475475-chr12:56582788..56585025,2	K562	blood:
16	chr12:56472058..56475455-chr12:56477194..56480758,7	K562	blood:
17	chr12:56473182..56475897-chr12:56486719..56489015,2	K562	blood:
18	chr12:56473732..56475652-chr12:57482023..57483860,2	MCF-7	breast:
19	chr12:56470948..56480058-chr12:56507665..56513741,17	K562	blood:
20	chr12:56471914..56476515-chr12:56581933..56586574,4	MCF-7	breast:
21	chr12:56473664..56475878-chr12:56486736..56489717,2	MCF-7	breast:
22	chr12:56363280..56366159-chr12:56473026..56475603,2	MCF-7	breast:
23	chr12:56360952..56363260-chr12:56474163..56475825,2	MCF-7	breast:
24	chr12:56434525..56442579-chr12:56469196..56475242,12	K562	blood:
25	chr12:56209963..56212805-chr12:56473917..56475602,2	MCF-7	breast:
26	chr12:56471291..56475668-chr12:56497220..56500908,8	K562	blood:
27	chr12:56473597..56475914-chr12:56490066..56491584,2	MCF-7	breast:
28	chr12:56434164..56442518-chr12:56471459..56476251,24	MCF-7	breast:
29	chr12:56472620..56475817-chr12:56544405..56546973,4	MCF-7	breast:
30	chr12:56472197..56476808-chr12:56477200..56483474,8	K562	blood:

No data

Variant related genes	Relation type
ERBB3	TF binding region
ENSG00000092841	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000257553	Chromatin interaction
ENSG00000257411	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000139579	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11834038	1.00[AMR][1000 genomes]
rs11835054	1.00[AMR][1000 genomes]
rs1508211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2066812	1.00[AMR][1000 genomes]
rs2271195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35807059	1.00[AMR][1000 genomes]
rs55771348	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56983027	1.00[AMR][1000 genomes]
rs60419159	1.00[AMR][1000 genomes]
rs61186183	1.00[AMR][1000 genomes]
rs61695444	1.00[AMR][1000 genomes]
rs73338396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340305	0.83[AFR][1000 genomes]
rs74091499	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092004	1.00[AMR][1000 genomes]
rs74092007	1.00[AMR][1000 genomes]
rs74092015	1.00[AMR][1000 genomes]
rs74094517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094522	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094539	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56472600-56475200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:56472600-56475600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:56472600-56476000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:56472600-56477400	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:56472800-56475400	Active TSS	Pancreas	Pancrea
6	chr12:56472800-56475800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr12:56472800-56476200	Active TSS	Fetal Kidney	kidney
8	chr12:56472800-56477400	Active TSS	Brain Substantia Nigra	brain
9	chr12:56473000-56475600	Active TSS	Gastric	stomach
10	chr12:56473000-56475600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr12:56473000-56475600	Active TSS	Small Intestine	intestine
12	chr12:56473000-56477400	Active TSS	Brain Angular Gyrus	brain
13	chr12:56473200-56476800	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:56473400-56475200	Bivalent/Poised TSS	HepG2	liver
15	chr12:56473600-56475200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:56473800-56476400	Enhancers	Fetal Heart	heart
17	chr12:56474000-56475200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr12:56474000-56475200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr12:56474000-56475400	Flanking Bivalent TSS/Enh	Placenta	Placenta
20	chr12:56474000-56475400	Flanking Active TSS	Hela-S3	cervix
21	chr12:56474000-56475800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:56474200-56475200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:56474200-56476000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:56474200-56477200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:56474400-56475400	Active TSS	Colonic Mucosa	Colon
26	chr12:56474400-56475400	Active TSS	HSMM	muscle
27	chr12:56474400-56475600	Active TSS	Lung	lung
28	chr12:56474400-56475800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:56474400-56475800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr12:56474400-56476000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:56474400-56476200	Active TSS	Duodenum Mucosa	Duodenum
32	chr12:56474400-56497200	Weak transcription	Right Atrium	heart
33	chr12:56474600-56475200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr12:56474600-56475200	Enhancers	A549	lung
35	chr12:56474600-56475200	Flanking Active TSS	NHEK	skin
36	chr12:56474600-56475400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:56474600-56475600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:56474600-56475600	Active TSS	Brain Anterior Caudate	brain
39	chr12:56474600-56475800	Active TSS	Esophagus	oesophagus
40	chr12:56474600-56476000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56474600-56476000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr12:56474600-56476400	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr12:56474600-56477600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:56474600-56478800	Weak transcription	Left Ventricle	heart
45	chr12:56474800-56475200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:56474800-56475200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:56474800-56475200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:56474800-56475200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:56474800-56475200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:56474800-56475200	Flanking Active TSS	HSMMtube	muscle

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