Variant report

Variant	rs36035578
Chromosome Location	chr12:56483535-56483536
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	chr12:56480065-56483649	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56366211..56368901-chr12:56482165..56483976,2	MCF-7	breast:
2	chr12:56481353..56485182-chr12:56485259..56488237,4	K562	blood:
3	chr12:56480948..56483944-chr12:56582412..56584224,2	MCF-7	breast:

Variant related genes	Relation type
ERBB3	TF binding region
ENSG00000258199	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000139613	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12099979	0.81[AMR][1000 genomes]
rs12810011	0.87[AMR][1000 genomes]
rs12817471	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2229046	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34228181	0.81[AMR][1000 genomes]
rs34406511	0.87[AMR][1000 genomes]
rs34650555	0.87[AMR][1000 genomes]
rs34921584	0.87[AMR][1000 genomes]
rs35662491	0.93[AMR][1000 genomes]
rs35666826	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71459339	0.81[AMR][1000 genomes]
rs71459342	0.93[AMR][1000 genomes];0.83[EUR][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	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
3	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36035578	SUOX	cis	Thyroid	GTEx
rs36035578	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56474400-56497200	Weak transcription	Right Atrium	heart
2	chr12:56475000-56485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:56476200-56497200	Weak transcription	Fetal Kidney	kidney
4	chr12:56476600-56487400	Weak transcription	Lung	lung
5	chr12:56476600-56496400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:56476600-56497600	Weak transcription	Small Intestine	intestine
7	chr12:56476800-56487200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:56477000-56497000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:56477000-56497000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:56477600-56496600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:56477800-56485800	Strong transcription	Fetal Stomach	stomach
12	chr12:56477800-56496200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:56478600-56496400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:56479200-56486400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:56479200-56486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:56479200-56489800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:56479200-56496000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:56479200-56496400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:56479400-56496800	Strong transcription	Fetal Intestine Small	intestine
20	chr12:56479400-56497200	Strong transcription	Fetal Intestine Large	intestine
21	chr12:56480000-56495800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:56480000-56496400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:56480400-56493400	Weak transcription	NHEK	skin
24	chr12:56480800-56484600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:56481200-56483800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:56481200-56484400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:56481200-56496200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:56481200-56496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:56481200-56497000	Weak transcription	Hela-S3	cervix
30	chr12:56481400-56492400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:56481600-56483600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:56481600-56484000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:56481600-56484400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:56481600-56496400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:56481600-56496600	Strong transcription	Placenta	Placenta
36	chr12:56481600-56497000	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:56481600-56497200	Strong transcription	Liver	Liver
38	chr12:56482000-56487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:56482400-56486600	Weak transcription	HSMMtube	muscle
40	chr12:56482600-56485400	Weak transcription	Pancreas	Pancrea
41	chr12:56482600-56486400	Weak transcription	Brain Substantia Nigra	brain
42	chr12:56482600-56486400	Weak transcription	Esophagus	oesophagus
43	chr12:56482800-56484000	Weak transcription	Gastric	stomach
44	chr12:56482800-56486400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:56482800-56486600	Weak transcription	Colonic Mucosa	Colon
46	chr12:56482800-56486600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:56482800-56486800	Weak transcription	Brain Angular Gyrus	brain
48	chr12:56482800-56497600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:56483000-56486600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:56483000-56486600	Weak transcription	Stomach Mucosa	stomach

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