Variant report

Variant	rs9832224
Chromosome Location	chr3:119050749-119050750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119040997..119045560-chr3:119046722..119050872,5	K562	blood:
2	chr3:119040533..119045560-chr3:119045561..119050872,12	K562	blood:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10511388	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs16829700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16829712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17281584	0.88[EUR][1000 genomes]
rs17281591	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4687849	1.00[CHB][hapmap]
rs4687850	1.00[CHB][hapmap]
rs4687999	1.00[CHB][hapmap]
rs4688000	1.00[CHB][hapmap]
rs878808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs880097	0.88[EUR][1000 genomes]
rs9289128	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935618	0.90[EUR][1000 genomes]
rs9835407	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9845965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119054000	Weak transcription	NHLF	lung
2	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
3	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
5	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
10	chr3:119043000-119051600	Weak transcription	HUVEC	blood vessel
11	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
12	chr3:119043200-119062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:119044400-119052000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:119046000-119052800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:119046000-119056000	Weak transcription	Fetal Thymus	thymus
16	chr3:119046000-119064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:119046000-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:119046800-119056000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:119047000-119053800	Enhancers	Fetal Stomach	stomach
20	chr3:119047200-119052000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:119047800-119053600	Enhancers	Ovary	ovary
22	chr3:119048000-119051000	Enhancers	Right Atrium	heart
23	chr3:119048000-119051800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:119048000-119052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:119048000-119054600	Enhancers	Fetal Heart	heart
26	chr3:119048400-119051400	Weak transcription	Fetal Lung	lung
27	chr3:119048800-119050800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:119048800-119051600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:119048800-119051800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:119048800-119052800	Weak transcription	Colonic Mucosa	Colon
31	chr3:119048800-119062800	Weak transcription	Osteobl	bone
32	chr3:119049000-119052800	Weak transcription	Brain Germinal Matrix	brain
33	chr3:119049200-119050800	Enhancers	Brain Anterior Caudate	brain
34	chr3:119049200-119052000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:119049200-119052600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:119049200-119062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:119049200-119071200	Weak transcription	Aorta	Aorta
38	chr3:119049400-119051000	Enhancers	Brain Substantia Nigra	brain
39	chr3:119049400-119052000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:119049400-119052600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:119049400-119052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:119049400-119056000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:119049600-119051600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:119049600-119068000	Weak transcription	NH-A	brain
45	chr3:119050000-119050800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:119050000-119050800	Weak transcription	Lung	lung
47	chr3:119050000-119051600	Weak transcription	Brain Angular Gyrus	brain
48	chr3:119050000-119051600	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:119050000-119051800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:119050000-119052800	Weak transcription	Right Ventricle	heart

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