Variant report

Variant	rs7977921
Chromosome Location	chr12:118576610-118576611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:118576529-118576797	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:118576483-118576880	HepG2	liver:	n/a	n/a
3	MBD4	chr12:118576394-118576876	HepG2	liver:	n/a	n/a
4	HDAC2	chr12:118576499-118576893	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:118576389-118576823	HepG2	liver:	n/a	n/a
6	MYBL2	chr12:118576427-118576920	HepG2	liver:	n/a	n/a
7	MBD4	chr12:118576388-118576920	HepG2	liver:	n/a	n/a
8	RCOR1	chr12:118576601-118576800	HepG2	liver:	n/a	n/a
9	SMC3	chr12:118576567-118576832	HepG2	liver:	n/a	n/a
10	FOXA1	chr12:118576437-118576959	HepG2	liver:	n/a	n/a
11	NFIC	chr12:118576489-118576900	HepG2	liver:	n/a	n/a
12	RXRA	chr12:118576450-118576952	HepG2	liver:	n/a	n/a
13	TBP	chr12:118576504-118576728	HepG2	liver:	n/a	n/a
14	MYBL2	chr12:118576360-118577014	HepG2	liver:	n/a	n/a
15	EP300	chr12:118576527-118576727	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:118576497-118576851	HepG2	liver:	n/a	n/a
17	CEBPD	chr12:118576549-118576817	HepG2	liver:	n/a	n/a
18	FOXA1	chr12:118576427-118577000	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:118576445-118576867	HepG2	liver:	n/a	n/a
20	NFIC	chr12:118576401-118576868	HepG2	liver:	n/a	n/a
21	EP300	chr12:118576391-118576972	HepG2	liver:	n/a	n/a
22	HNF4A	chr12:118576579-118576820	HepG2	liver:	n/a	chr12:118576737-118576752
23	MAZ	chr12:118576566-118576872	HepG2	liver:	n/a	chr12:118576767-118576777
24	HEY1	chr12:118576517-118576789	HepG2	liver:	n/a	n/a
25	JUND	chr12:118576490-118576771	HepG2	liver:	n/a	n/a
26	HEY1	chr12:118576437-118576904	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:118576459-118576860	HepG2	liver:	n/a	n/a
28	MXI1	chr12:118576509-118577009	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:118576499-118576880	HepG2	liver:	n/a	n/a
30	REST	chr12:118576569-118576768	HepG2	liver:	n/a	n/a
31	TCF12	chr12:118576553-118576894	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:118576542-118576738	HepG2	liver:	n/a	n/a
33	MAFF	chr12:118576566-118576786	HepG2	liver:	n/a	n/a
34	JUN	chr12:118576512-118576737	HepG2	liver:	n/a	n/a
35	FOXA1	chr12:118576493-118576883	HepG2	liver:	n/a	n/a
36	MAX	chr12:118576436-118577057	HepG2	liver:	n/a	chr12:118576767-118576777
37	EP300	chr12:118576392-118576980	HepG2	liver:	n/a	n/a
38	MAFK	chr12:118576586-118576805	HepG2	liver:	n/a	chr12:118576731-118576746
39	REST	chr12:118576494-118576866	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:118576506-118576782	HepG2	liver:	n/a	n/a
41	SP1	chr12:118576394-118576966	HepG2	liver:	n/a	chr12:118576767-118576777 chr12:118576766-118576778 chr12:118576766-118576778 chr12:118576773-118576782
42	MYC	chr12:118576595-118576629	GM12878	blood:	n/a	n/a
43	TEAD4	chr12:118576399-118576972	HepG2	liver:	n/a	n/a
44	FOXA2	chr12:118576548-118576886	HepG2	liver:	n/a	n/a
45	FOXA1	chr12:118576527-118576904	HepG2	liver:	n/a	n/a
46	RXRA	chr12:118576353-118577004	HepG2	liver:	n/a	n/a
47	RFX5	chr12:118576567-118576783	HepG2	liver:	n/a	n/a
48	HDAC2	chr12:118576507-118576884	HepG2	liver:	n/a	n/a
49	RAD21	chr12:118576578-118576856	HepG2	liver:	n/a	n/a
50	JUND	chr12:118576557-118576831	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118556622..118559418-chr12:118574681..118576805,2	K562	blood:
2	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:

No data

Variant related genes	Relation type
PEBP1	TF binding region
VSIG10	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11068845	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939761	1.00[CEU][hapmap]
rs2088702	0.81[CHB][hapmap]
rs2293444	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847651	0.83[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575000-118576800	Enhancers	Gastric	stomach
2	chr12:118575000-118577200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:118575000-118577200	Weak transcription	Fetal Thymus	thymus
4	chr12:118575000-118577400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:118575000-118585200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:118575200-118577000	Weak transcription	Fetal Kidney	kidney
7	chr12:118575200-118577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:118575200-118577200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:118575200-118577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:118575200-118577200	Weak transcription	Aorta	Aorta
11	chr12:118575200-118577200	Enhancers	Placenta	Placenta
12	chr12:118575200-118577200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:118575200-118577200	Weak transcription	Spleen	Spleen
14	chr12:118575200-118577600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:118575200-118579400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:118575200-118585800	Weak transcription	Fetal Heart	heart
17	chr12:118575400-118576800	Genic enhancers	Fetal Intestine Small	intestine
18	chr12:118575400-118577000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:118575400-118577000	Enhancers	Brain Substantia Nigra	brain
20	chr12:118575400-118577000	Enhancers	Pancreas	Pancrea
21	chr12:118575400-118577000	Weak transcription	Thymus	Thymus
22	chr12:118575400-118577200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:118575400-118577200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:118575400-118577200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:118575400-118577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:118575400-118577200	Enhancers	Brain Hippocampus Middle	brain
27	chr12:118575400-118577200	Weak transcription	Esophagus	oesophagus
28	chr12:118575400-118577200	Weak transcription	Fetal Lung	lung
29	chr12:118575400-118577200	Weak transcription	Psoas Muscle	Psoas
30	chr12:118575400-118577200	Weak transcription	Right Ventricle	heart
31	chr12:118575400-118577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:118575400-118577200	Weak transcription	HSMMtube	muscle
33	chr12:118575400-118577200	Weak transcription	NH-A	brain
34	chr12:118575400-118577200	Weak transcription	NHDF-Ad	bronchial
35	chr12:118575400-118577200	Weak transcription	NHLF	lung
36	chr12:118575400-118577400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:118575400-118577400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:118575400-118577600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:118575400-118577600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:118575400-118577800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:118575400-118577800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:118575400-118578200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:118575400-118584800	Strong transcription	NHEK	skin
44	chr12:118575400-118590400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:118575400-118590600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:118575400-118590600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
48	chr12:118575600-118577200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:118575600-118577200	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:118575600-118577200	Weak transcription	Rectal Mucosa Donor 31	rectum

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