Variant report

Variant	rs28452331
Chromosome Location	chr2:191471847-191471848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191398577..191400823-chr2:191470915..191472989,2	MCF-7	breast:
2	chr2:191398808..191400464-chr2:191469531..191472101,2	K562	blood:
3	chr2:191469811..191472994-chr2:191510666..191514604,3	K562	blood:
4	chr2:191398124..191401338-chr2:191468460..191472195,4	K562	blood:

Variant related genes	Relation type
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000138386	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10165399	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173771	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737936	0.82[AFR][1000 genomes]
rs11680758	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611871	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410230	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853513	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434401	0.84[AFR][1000 genomes]
rs6434402	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724607	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598979	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603849	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630991	0.89[AMR][1000 genomes];0.94[EUR][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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28452331	HIBCH	cis	Thyroid	GTEx
rs28452331	HIBCH	cis	Muscle Skeletal	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
2	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:191468000-191473200	Enhancers	Fetal Heart	heart
4	chr2:191469400-191472200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:191469400-191472200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:191469400-191472600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:191469600-191472600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:191470400-191472200	Enhancers	GM12878-XiMat	blood
9	chr2:191470400-191473800	Enhancers	K562	blood
10	chr2:191470400-191480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:191470600-191472600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:191470600-191472600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:191470600-191473400	Enhancers	HMEC	breast
14	chr2:191470800-191472400	Flanking Active TSS	Hela-S3	cervix
15	chr2:191470800-191473000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:191471600-191472000	Enhancers	Fetal Lung	lung
17	chr2:191471600-191472000	Enhancers	Fetal Stomach	stomach
18	chr2:191471600-191472000	Enhancers	NHLF	lung
19	chr2:191471600-191472000	Flanking Active TSS	Osteobl	bone
20	chr2:191471600-191472200	Enhancers	Fetal Muscle Leg	muscle
21	chr2:191471600-191472400	Flanking Active TSS	A549	lung
22	chr2:191471600-191472600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:191471600-191472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:191471600-191472600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:191471600-191472600	Enhancers	HSMMtube	muscle
26	chr2:191471600-191472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:191471600-191473000	Enhancers	HSMM	muscle
28	chr2:191471600-191473200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:191471800-191472000	Enhancers	Left Ventricle	heart
30	chr2:191471800-191472000	Enhancers	NH-A	brain
31	chr2:191471800-191472200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:191471800-191472200	Enhancers	Adipose Nuclei	Adipose
33	chr2:191471800-191472200	Enhancers	Right Atrium	heart
34	chr2:191471800-191472200	Enhancers	Right Ventricle	heart
35	chr2:191471800-191472600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:191471800-191473000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:191471800-191473000	Enhancers	NHEK	skin

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