Variant report

Variant	rs9814833
Chromosome Location	chr3:52724481-52724482
allele	A/C/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	chr3:52721385-52732213	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:52724401-52725357	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr3:52724461-52725359	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:52724458-52725351	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52723153..52727199-chr3:52728017..52730930,5	MCF-7	breast:
2	chr3:52722798..52726345-chr3:52803116..52806448,3	K562	blood:
3	chr3:52718708..52722190-chr3:52722401..52727615,8	MCF-7	breast:

Variant related genes	Relation type
PBRM1	TF binding region
SNORD69	TF binding region
SNORD19B	TF binding region
GNL3	TF binding region
ENSG00000222345	TF binding region
ENSG00000114904	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000016864	Chromatin interaction
ENSG00000163938	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13325325	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35394357	1.00[EUR][1000 genomes]
rs9814016	1.00[EUR][1000 genomes]
rs9815559	1.00[EUR][1000 genomes]
rs9824342	1.00[EUR][1000 genomes]
rs9834919	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9836894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9857947	1.00[EUR][1000 genomes]
rs9864989	1.00[AMR][1000 genomes];1.00[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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52721000-52728000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:52721000-52730400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:52721000-52734400	Strong transcription	Fetal Stomach	stomach
4	chr3:52721000-52738600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:52721200-52730600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:52721200-52731600	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr3:52721200-52732200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:52721200-52732200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:52721200-52732200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:52721200-52733000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr3:52721200-52734400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:52721400-52725400	Strong transcription	Rectal Smooth Muscle	rectum
13	chr3:52721400-52730800	Strong transcription	Lung	lung
14	chr3:52721400-52731800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:52721400-52732000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:52721400-52732200	Strong transcription	Brain Angular Gyrus	brain
17	chr3:52721400-52732200	Strong transcription	Colon Smooth Muscle	Colon
18	chr3:52721400-52732400	Strong transcription	Brain Anterior Caudate	brain
19	chr3:52721400-52732400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:52721400-52732800	Strong transcription	Fetal Brain Female	brain
21	chr3:52721400-52732800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:52721400-52733000	Strong transcription	Adipose Nuclei	Adipose
23	chr3:52721400-52734000	Strong transcription	Primary B cells from cord blood	blood
24	chr3:52721400-52734200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:52721400-52734400	Strong transcription	Brain Hippocampus Middle	brain
26	chr3:52721400-52734400	Strong transcription	Fetal Lung	lung
27	chr3:52721400-52734400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:52721400-52734600	Strong transcription	Primary T cells from cord blood	blood
29	chr3:52721400-52735800	Strong transcription	Fetal Muscle Leg	muscle
30	chr3:52721600-52724600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:52721600-52725400	Strong transcription	Fetal Brain Male	brain
32	chr3:52721600-52725600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr3:52721600-52725600	Strong transcription	Brain Substantia Nigra	brain
34	chr3:52721600-52725600	Strong transcription	Colonic Mucosa	Colon
35	chr3:52721600-52725600	Strong transcription	Fetal Kidney	kidney
36	chr3:52721600-52730400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:52721600-52730400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:52721600-52730800	Strong transcription	Spleen	Spleen
39	chr3:52721600-52731200	Strong transcription	HSMMtube	muscle
40	chr3:52721600-52732000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:52721600-52732000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:52721600-52732000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr3:52721600-52732000	Strong transcription	Left Ventricle	heart
44	chr3:52721600-52732000	Strong transcription	Ovary	ovary
45	chr3:52721600-52732000	Strong transcription	Right Ventricle	heart
46	chr3:52721600-52732200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:52721600-52732400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:52721600-52732400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:52721600-52733600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:52721600-52734200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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