Variant report

Variant	rs3791809
Chromosome Location	chr2:191209718-191209719
allele	C/T
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	GATA3	chr2:191209340-191209959	SK-N-SH	brain:	n/a	chr2:191209893-191209900 chr2:191209650-191209666 chr2:191209650-191209666
2	RFX5	chr2:191208217-191209747	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr2:191209593-191209762	SH-SY5Y	brain:	n/a	chr2:191209650-191209666 chr2:191209650-191209666
4	GATA2	chr2:191208927-191209825	HUVEC	blood vessel:	n/a	chr2:191209650-191209666 chr2:191209652-191209666 chr2:191209650-191209666
5	GATA3	chr2:191209326-191209913	SK-N-SH	brain:	n/a	chr2:191209893-191209900 chr2:191209650-191209666 chr2:191209650-191209666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191209219..191211373-chr2:191219117..191222067,2	MCF-7	breast:

Variant related genes	Relation type
HIBCH	TF binding region
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11544940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12471159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12693568	0.93[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1530225	0.89[ASN][1000 genomes]
rs1530226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2006980	0.91[ASN][1000 genomes]
rs2067434	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2067446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2582736	1.00[JPT][hapmap]
rs291430	0.92[ASN][1000 genomes]
rs291445	1.00[JPT][hapmap]
rs291447	1.00[JPT][hapmap]
rs291448	0.81[ASN][1000 genomes]
rs291449	0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs291458	0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs291459	0.81[ASN][1000 genomes]
rs291460	0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs291461	0.81[ASN][1000 genomes]
rs291462	0.81[ASN][1000 genomes]
rs291468	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs35277625	0.87[ASN][1000 genomes]
rs56044907	0.92[ASN][1000 genomes]
rs6434387	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6730620	0.91[ASN][1000 genomes]
rs7590991	0.91[CHD][hapmap];0.95[JPT][hapmap]
rs909270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs909272	0.91[ASN][1000 genomes]
rs9784054	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405665	chr2:191207532-191210080	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3791809	HIBCH	cis	Thyroid	GTEx
rs3791809	HIBCH	cis	multi-tissue	Pritchard
rs3791809	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs3791809	HIBCH	cis	lymphoblastoid	seeQTL
rs3791809	HIBCH	cis	lung	GTEx
rs3791809	HIBCH	cis	Heart Left Ventricle	GTEx
rs3791809	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs3791809	HIBCH	cis	Muscle Skeletal	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191205800-191216200	Weak transcription	K562	blood
2	chr2:191207400-191210000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr2:191208000-191209800	Active TSS	NH-A	brain
4	chr2:191208000-191210000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:191208000-191210600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:191208200-191209800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:191208200-191209800	Active TSS	Right Ventricle	heart
8	chr2:191208200-191209800	Active TSS	Hela-S3	cervix
9	chr2:191208200-191210000	Active TSS	Right Atrium	heart
10	chr2:191208200-191210400	Active TSS	NHDF-Ad	bronchial
11	chr2:191208200-191210400	Active TSS	NHLF	lung
12	chr2:191208400-191209800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:191208400-191209800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:191208600-191209800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:191208600-191209800	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:191208800-191209800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr2:191209000-191209800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:191209000-191209800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:191209000-191209800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:191209000-191209800	Flanking Active TSS	Fetal Lung	lung
21	chr2:191209000-191209800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:191209000-191210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:191209200-191209800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:191209200-191209800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:191209200-191209800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:191209200-191209800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:191209200-191209800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:191209200-191209800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:191209200-191209800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:191209200-191209800	Flanking Active TSS	Liver	Liver
31	chr2:191209200-191209800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr2:191209200-191209800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr2:191209200-191209800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr2:191209200-191209800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr2:191209200-191209800	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr2:191209200-191209800	Flanking Active TSS	Fetal Kidney	kidney
37	chr2:191209200-191209800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:191209200-191209800	Flanking Active TSS	NHEK	skin
39	chr2:191209200-191210000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr2:191209200-191210000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:191209200-191210000	Flanking Active TSS	Osteobl	bone
42	chr2:191209200-191210400	Weak transcription	Pancreas	Pancrea
43	chr2:191209200-191210400	Weak transcription	Small Intestine	intestine
44	chr2:191209200-191210400	Flanking Active TSS	HUVEC	blood vessel
45	chr2:191209200-191216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:191209200-191216800	Weak transcription	Gastric	stomach
47	chr2:191209200-191216800	Weak transcription	Lung	lung
48	chr2:191209200-191217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:191209400-191209800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr2:191209400-191209800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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