Variant report

Variant	rs71447768
Chromosome Location	chr12:56383081-56383082
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	chr12:56382871-56383295	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56360588..56363018-chr12:56383042..56385730,2	K562	blood:
2	chr12:56379655..56383410-chr12:56384444..56387203,3	K562	blood:
3	chr12:56382696..56386085-chr12:56510688..56513603,3	K562	blood:

Variant related genes	Relation type
RAB5B	TF binding region
ENSG00000255990	TF binding region
ENSG00000123374	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000111540	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1045435	0.98[EUR][1000 genomes]
rs11171713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11171715	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11550558	0.94[EUR][1000 genomes]
rs12099979	0.87[AMR][1000 genomes]
rs12810011	0.81[AMR][1000 genomes]
rs12815302	0.93[AMR][1000 genomes]
rs12815488	0.93[AMR][1000 genomes]
rs12817765	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12831468	0.93[AMR][1000 genomes]
rs17118206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118262	0.93[AMR][1000 genomes]
rs34071823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34228181	0.87[AMR][1000 genomes]
rs34273234	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34303864	0.93[AMR][1000 genomes]
rs34406511	0.81[AMR][1000 genomes]
rs34485293	0.81[AMR][1000 genomes]
rs34602183	0.81[AMR][1000 genomes]
rs34650555	0.81[AMR][1000 genomes]
rs34921584	0.81[AMR][1000 genomes]
rs34962186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35485002	0.81[AMR][1000 genomes]
rs67594137	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71459326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71459327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71459334	0.93[AMR][1000 genomes]
rs71459336	0.81[AMR][1000 genomes]
rs71459339	0.87[AMR][1000 genomes]
rs7298818	0.81[AMR][1000 genomes]
rs7977537	0.81[AMR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71447768	SUOX	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56368600-56383200	Weak transcription	Gastric	stomach
2	chr12:56369000-56383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:56369200-56383600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:56369200-56384600	Weak transcription	Psoas Muscle	Psoas
5	chr12:56369400-56383400	Weak transcription	Pancreas	Pancrea
6	chr12:56369400-56384200	Weak transcription	Fetal Brain Male	brain
7	chr12:56369400-56389400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56369800-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:56370000-56389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:56370000-56389600	Strong transcription	Fetal Thymus	thymus
11	chr12:56370200-56389600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:56370400-56385000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:56370400-56388400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:56370600-56383200	Weak transcription	HepG2	liver
15	chr12:56370600-56383400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:56370600-56388200	Strong transcription	Dnd41	blood
17	chr12:56370600-56389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:56370800-56383400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:56371400-56389600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:56371600-56383400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:56371600-56388800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:56371800-56383400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:56372400-56390000	Strong transcription	Placenta	Placenta
24	chr12:56372800-56386200	Strong transcription	Fetal Intestine Large	intestine
25	chr12:56372800-56389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:56372800-56389600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:56372800-56389600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:56373200-56386600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:56373400-56389400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:56373400-56389600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:56373600-56383400	Weak transcription	Stomach Mucosa	stomach
32	chr12:56373600-56388600	Strong transcription	Liver	Liver
33	chr12:56373800-56386000	Strong transcription	Fetal Intestine Small	intestine
34	chr12:56374000-56388600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:56374000-56389600	Strong transcription	Fetal Stomach	stomach
36	chr12:56374200-56388800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:56375600-56384400	Weak transcription	Hela-S3	cervix
38	chr12:56375800-56390600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:56376000-56389600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:56376600-56388200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:56376600-56388800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:56376600-56389600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:56376800-56383400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:56377000-56389400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:56377200-56388600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:56377200-56389200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:56377400-56388200	Strong transcription	Brain Anterior Caudate	brain
48	chr12:56377400-56388400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:56377400-56388600	Strong transcription	Thymus	Thymus
50	chr12:56377400-56389400	Strong transcription	Primary T cells fromperipheralblood	blood

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