Variant report

Variant	rs17100632
Chromosome Location	chr12:65140801-65140802
allele	C/G
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	MYC	chr12:65140526-65141058	MCF10A-Er-Src	breast:	n/a	chr12:65140861-65140871 chr12:65140617-65140626
2	STAT3	chr12:65140368-65140985	MCF10A-Er-Src	breast:	n/a	chr12:65140669-65140681
3	GATA2	chr12:65140484-65141055	HUVEC	blood vessel:	n/a	chr12:65140724-65140734 chr12:65140723-65140737
4	MAX	chr12:65140503-65141068	SK-N-SH	brain:	n/a	chr12:65140861-65140871 chr12:65140617-65140626
5	STAT3	chr12:65140366-65141755	MCF10A-Er-Src	breast:	n/a	chr12:65140669-65140681 chr12:65141060-65141074
6	STAT3	chr12:65140174-65141044	MCF10A-Er-Src	breast:	n/a	chr12:65140669-65140681
7	FOS	chr12:65140409-65140998	MCF10A-Er-Src	breast:	n/a	chr12:65140610-65140622 chr12:65140617-65140625 chr12:65140615-65140626
8	FOSL2	chr12:65140356-65140856	SK-N-SH	brain:	n/a	chr12:65140610-65140622 chr12:65140617-65140625
9	GATA3	chr12:65140338-65141050	SK-N-SH	brain:	n/a	chr12:65140724-65140734
10	MYC	chr12:65140460-65141262	MCF10A-Er-Src	breast:	n/a	chr12:65140861-65140871 chr12:65140617-65140626
11	JUND	chr12:65140342-65140955	SK-N-SH	brain:	n/a	chr12:65140610-65140622 chr12:65140617-65140625
12	JUND	chr12:65140152-65141034	SK-N-SH	brain:	n/a	chr12:65140610-65140622 chr12:65140617-65140625
13	FOS	chr12:65140460-65140818	MCF10A-Er-Src	breast:	n/a	chr12:65140610-65140622 chr12:65140617-65140625 chr12:65140615-65140626
14	MAX	chr12:65140726-65141051	NB4	blood:	n/a	chr12:65140861-65140871
15	GATA3	chr12:65140293-65141075	SK-N-SH	brain:	n/a	chr12:65140724-65140734
16	FOS	chr12:65140378-65140880	HUVEC	blood vessel:	n/a	chr12:65140610-65140622 chr12:65140617-65140625 chr12:65140615-65140626
17	FOS	chr12:65140395-65140842	MCF10A-Er-Src	breast:	n/a	chr12:65140610-65140622 chr12:65140617-65140625 chr12:65140615-65140626
18	STAT3	chr12:65140368-65141749	MCF10A-Er-Src	breast:	n/a	chr12:65140669-65140681 chr12:65141060-65141074
19	FOS	chr12:65140442-65140817	MCF10A-Er-Src	breast:	n/a	chr12:65140610-65140622 chr12:65140617-65140625 chr12:65140615-65140626
20	STAT3	chr12:65140132-65140915	MCF10A-Er-Src	breast:	n/a	chr12:65140669-65140681

No.	Distal block	Cell Line	Cell type
1	chr12:65137737..65141003-chr12:65173047..65176174,6	MCF-7	breast:
2	chr12:65138932..65142651-chr12:65151116..65153191,3	K562	blood:
3	chr12:65139363..65142311-chr12:65143603..65146653,3	MCF-7	breast:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12815624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100633	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100642	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60648839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099668	0.97[AFR][1000 genomes];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	chr12:65111600-65146800	Strong transcription	Fetal Intestine Large	intestine
3	chr12:65125200-65152400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:65125600-65144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:65126800-65147800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:65127200-65141200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:65127200-65141600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:65127200-65142200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:65127200-65146000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:65127200-65146800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:65127200-65147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:65127200-65149000	Strong transcription	Primary T cells from cord blood	blood
13	chr12:65127400-65142400	Strong transcription	Liver	Liver
14	chr12:65127400-65145400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:65127400-65148400	Strong transcription	Dnd41	blood
16	chr12:65128000-65145600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:65128400-65144800	Strong transcription	Fetal Brain Female	brain
18	chr12:65128400-65146800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:65129000-65145600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:65129400-65141800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:65129400-65142200	Strong transcription	Left Ventricle	heart
22	chr12:65129400-65143800	Strong transcription	Brain Anterior Caudate	brain
23	chr12:65129600-65149200	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:65129800-65152400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:65132200-65147000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:65132600-65141000	Strong transcription	Fetal Thymus	thymus
27	chr12:65132800-65141800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:65132800-65152200	Weak transcription	Colonic Mucosa	Colon
29	chr12:65133400-65144600	Strong transcription	Ovary	ovary
30	chr12:65133800-65150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:65134600-65146600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:65134800-65147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:65135000-65146800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:65135800-65146400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:65136200-65141000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:65136200-65144000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:65136200-65146000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:65136400-65142600	Strong transcription	GM12878-XiMat	blood
39	chr12:65136400-65152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:65136600-65149000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:65136800-65142000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:65137000-65141600	Weak transcription	Spleen	Spleen
43	chr12:65137000-65144400	Weak transcription	Small Intestine	intestine
44	chr12:65137000-65146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:65137000-65146800	Weak transcription	Gastric	stomach
46	chr12:65137000-65152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:65137200-65143600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:65137200-65143600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:65137200-65152600	Weak transcription	Esophagus	oesophagus
50	chr12:65137800-65147000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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