Variant report

Variant	rs73119686
Chromosome Location	chr12:50427088-50427089
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	ELF1	chr12:50426956-50427190	K562	blood:	n/a	chr12:50427047-50427059
2	REST	chr12:50426706-50427505	HL-60	blood:	n/a	chr12:50427082-50427095
3	ELF1	chr12:50427045-50427454	K562	blood:	n/a	chr12:50427047-50427059 chr12:50427245-50427258
4	POLR2A	chr12:50426718-50427512	HL-60	blood:	n/a	n/a
5	POLR2A	chr12:50426533-50427495	HL-60	blood:	n/a	n/a
6	ZBTB7A	chr12:50426938-50427208	K562	blood:	n/a	n/a
7	MAZ	chr12:50426881-50427327	K562	blood:	n/a	n/a
8	CBX3	chr12:50426896-50427305	K562	blood:	n/a	n/a
9	SPI1	chr12:50426898-50427537	HL-60	blood:	n/a	n/a
10	SIN3A	chr12:50426443-50427299	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr12:50427034-50427369	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
2	chr12:50419178..50421274-chr12:50425998..50428027,2	MCF-7	breast:

Variant related genes	Relation type
RACGAP1	TF binding region
ENSG00000161800	Chromatin interaction
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10161020	0.82[EUR][1000 genomes]
rs10161120	0.82[EUR][1000 genomes]
rs11169259	0.82[EUR][1000 genomes]
rs11169260	0.82[EUR][1000 genomes]
rs55936104	0.82[EUR][1000 genomes]
rs55990533	0.82[EUR][1000 genomes]
rs73119681	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73119688	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73119690	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50424400-50427400	Weak transcription	HepG2	liver
2	chr12:50426000-50428000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:50426200-50427200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:50426200-50427200	Active TSS	Fetal Kidney	kidney
5	chr12:50426200-50427400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:50426200-50427400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:50426200-50427400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:50426200-50427600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:50426200-50427800	Enhancers	K562	blood
10	chr12:50426400-50427200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:50426400-50427200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:50426400-50427200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:50426400-50427200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:50426400-50427200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr12:50426400-50427200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:50426400-50427200	Enhancers	Fetal Heart	heart
17	chr12:50426400-50427200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr12:50426400-50427200	Active TSS	Right Atrium	heart
19	chr12:50426400-50427400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr12:50426400-50427400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr12:50426400-50427400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr12:50426400-50427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:50426400-50427600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:50426600-50427200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:50426600-50427200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:50426600-50427200	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr12:50426600-50427200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:50426600-50427200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr12:50426600-50427200	Active TSS	Placenta	Placenta
30	chr12:50426600-50427400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:50426600-50427400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr12:50426600-50428000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:50426800-50427200	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:50426800-50427400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:50426800-50427400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:50426800-50428000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:50426800-50428000	Weak transcription	NHEK	skin
38	chr12:50427000-50427200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:50427000-50427200	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:50427000-50427200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:50427000-50427200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:50427000-50427200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
43	chr12:50427000-50427200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr12:50427000-50427200	Bivalent Enhancer	Fetal Brain Male	brain
45	chr12:50427000-50427200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
46	chr12:50427000-50427200	Active TSS	Right Ventricle	heart
47	chr12:50427000-50427200	Active TSS	Thymus	Thymus
48	chr12:50427000-50427600	Bivalent Enhancer	Fetal Thymus	thymus
49	chr12:50427000-50432800	Weak transcription	HMEC	breast
50	chr12:50427000-50434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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