Variant report

Variant	rs17176750
Chromosome Location	chr12:65146859-65146860
allele	A/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	POLR2A	chr12:65146428-65147125	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr12:65146423-65147217	SK-N-SH	brain:	n/a	chr12:65146822-65146830 chr12:65146812-65146821 chr12:65147058-65147068 chr12:65146750-65146760 chr12:65146814-65146821
3	POLR2A	chr12:65146566-65146910	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:65146472-65147185	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr12:65146534-65147308	SK-N-SH	brain:	n/a	n/a
6	FOS	chr12:65146553-65147071	HUVEC	blood vessel:	n/a	chr12:65146795-65146806
7	POLR2A	chr12:65146604-65146935	SK-N-SH	brain:	n/a	n/a
8	EP300	chr12:65146573-65146928	SK-N-SH_RA	brain:	n/a	chr12:65146601-65146610
9	REST	chr12:65146601-65146991	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:65146656-65147012	HUVEC	blood vessel:	n/a	n/a
11	JUN	chr12:65146580-65146986	HUVEC	blood vessel:	n/a	n/a
12	PBX3	chr12:65146533-65147111	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr12:65146591-65147106	SK-N-SH	brain:	n/a	n/a
14	GATA2	chr12:65146524-65147126	HUVEC	blood vessel:	n/a	chr12:65146822-65146830 chr12:65146812-65146821 chr12:65147058-65147068 chr12:65146750-65146760 chr12:65146814-65146821
15	EP300	chr12:65146607-65147038	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr12:65146603-65146913	HUVEC	blood vessel:	n/a	n/a
17	GATA3	chr12:65146309-65147232	SK-N-SH	brain:	n/a	chr12:65146822-65146830 chr12:65146812-65146821 chr12:65147058-65147068 chr12:65146750-65146760 chr12:65146814-65146821

No.	Distal block	Cell Line	Cell type
1	chr12:65142421..65145111-chr12:65146811..65149410,2	K562	blood:
2	chr12:65145213..65147886-chr12:65173408..65175935,2	MCF-7	breast:
3	chr12:65135561..65138937-chr12:65146075..65149622,4	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61730726	1.00[AFR][1000 genomes];0.80[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17176750	TMBIM4	cis	cerebellum	SCAN

Chromatin state (count:127 , 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	chr12:65126800-65147800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr12:65127200-65147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:65127200-65149000	Strong transcription	Primary T cells from cord blood	blood
6	chr12:65127400-65148400	Strong transcription	Dnd41	blood
7	chr12:65129600-65149200	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:65129800-65152400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:65132200-65147000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:65132800-65152200	Weak transcription	Colonic Mucosa	Colon
11	chr12:65133800-65150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:65134800-65147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:65136400-65152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:65136600-65149000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:65137000-65152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:65137200-65152600	Weak transcription	Esophagus	oesophagus
17	chr12:65137800-65147000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:65138200-65152000	Weak transcription	Psoas Muscle	Psoas
19	chr12:65138600-65152400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:65139000-65151600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:65139600-65151600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:65140200-65151200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:65140200-65151600	Weak transcription	K562	blood
24	chr12:65140200-65152200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:65140600-65147000	Strong transcription	Brain Germinal Matrix	brain
26	chr12:65141200-65151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:65141200-65152400	Weak transcription	A549	lung
28	chr12:65141400-65150800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:65141400-65151400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:65141800-65151400	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:65142600-65151600	Weak transcription	NHEK	skin
32	chr12:65143400-65147800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:65143400-65148000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:65143400-65148000	Strong transcription	HepG2	liver
35	chr12:65143800-65147200	Strong transcription	Liver	Liver
36	chr12:65143800-65148000	Weak transcription	Brain Anterior Caudate	brain
37	chr12:65143800-65149000	Strong transcription	Placenta	Placenta
38	chr12:65143800-65151600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:65143800-65151600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:65143800-65151600	Weak transcription	Fetal Brain Male	brain
41	chr12:65144000-65150800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:65144400-65148400	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:65144600-65147000	Weak transcription	Right Ventricle	heart
44	chr12:65144600-65147600	Weak transcription	Fetal Lung	lung
45	chr12:65144600-65151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:65144600-65152200	Weak transcription	HSMMtube	muscle
47	chr12:65144800-65147000	Weak transcription	Lung	lung
48	chr12:65144800-65147400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:65144800-65151200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:65144800-65151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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