Variant report

Variant	rs74099664
Chromosome Location	chr12:65151627-65151628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:65151502-65151847	GM12891	blood:	n/a	n/a
2	SPI1	chr12:65151602-65151817	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:65151596-65151874	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr12:65151249-65151993	GM12878	blood:	n/a	n/a
5	IRF4	chr12:65151533-65151937	GM12878	blood:	n/a	n/a
6	SRF	chr12:65151626-65151869	GM12878	blood:	n/a	n/a
7	SPI1	chr12:65151490-65151889	GM12878	blood:	n/a	n/a
8	SPI1	chr12:65151560-65151918	GM12891	blood:	n/a	n/a
9	ZNF384	chr12:65151497-65152090	GM12878	blood:	n/a	n/a
10	ZNF143	chr12:65151595-65151849	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65138932..65142651-chr12:65151116..65153191,3	K562	blood:
2	chr12:65150244..65154683-chr12:65172497..65176188,8	MCF-7	breast:
3	chr12:65149391..65152875-chr12:65160057..65163271,3	K562	blood:
4	chr12:65148774..65157978-chr12:65171970..65176271,20	MCF-7	breast:
5	chr12:65144722..65146746-chr12:65149884..65152740,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215159	TF binding region
GNS	TF binding region
ENSG00000111490	Chromatin interaction
ENSG00000135677	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17100621	1.00[AMR][1000 genomes]
rs2230292	0.90[AFR][1000 genomes]
rs55747137	1.00[AMR][1000 genomes]
rs56739324	1.00[AMR][1000 genomes]
rs58327448	1.00[AMR][1000 genomes]
rs58606781	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60988778	1.00[AMR][1000 genomes]
rs74098643	0.90[AFR][1000 genomes]
rs74099588	1.00[AMR][1000 genomes]
rs74099656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099673	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099681	1.00[AMR][1000 genomes]
rs74099691	1.00[AMR][1000 genomes]
rs74099695	1.00[AMR][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	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65106400-65152600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:65125200-65152400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:65129800-65152400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:65132800-65152200	Weak transcription	Colonic Mucosa	Colon
5	chr12:65136400-65152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:65137000-65152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:65137200-65152600	Weak transcription	Esophagus	oesophagus
8	chr12:65138200-65152000	Weak transcription	Psoas Muscle	Psoas
9	chr12:65138600-65152400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:65140200-65152200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:65141200-65152400	Weak transcription	A549	lung
12	chr12:65144600-65151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:65144600-65152200	Weak transcription	HSMMtube	muscle
14	chr12:65144800-65151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:65144800-65152000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:65144800-65152400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:65145000-65151800	Weak transcription	Thymus	Thymus
18	chr12:65145400-65151800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:65145400-65152400	Weak transcription	Fetal Kidney	kidney
20	chr12:65145600-65151800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:65145600-65151800	Weak transcription	HMEC	breast
22	chr12:65145600-65152000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:65145600-65152200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:65145600-65152400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:65145800-65151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:65146000-65151800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:65146000-65152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:65146000-65152400	Weak transcription	Fetal Stomach	stomach
29	chr12:65146200-65152200	Weak transcription	HSMM	muscle
30	chr12:65146400-65152200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:65146600-65152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:65147200-65152200	Weak transcription	Right Atrium	heart
33	chr12:65147200-65152400	Weak transcription	Stomach Mucosa	stomach
34	chr12:65147600-65151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:65147800-65151800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:65148200-65152400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:65148400-65151800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:65148400-65152400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:65148400-65152400	Weak transcription	Aorta	Aorta
40	chr12:65149000-65152000	Weak transcription	Lung	lung
41	chr12:65149600-65152600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:65150000-65152000	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:65150000-65152400	Enhancers	Fetal Heart	heart
44	chr12:65150400-65152600	Enhancers	Small Intestine	intestine
45	chr12:65150600-65152200	Enhancers	Left Ventricle	heart
46	chr12:65150600-65152400	Enhancers	Liver	Liver
47	chr12:65150800-65151800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:65150800-65151800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:65150800-65152400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:65150800-65152400	Enhancers	Brain Cingulate Gyrus	brain

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