Variant report

Variant	rs323899
Chromosome Location	chr3:51971772-51971773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:51971600-51971783	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51963363..51966858-chr3:51969595..51972512,3	MCF-7	breast:
2	chr3:51971377..51973974-chr3:51999528..52003131,3	K562	blood:
3	chr3:51969066..51973081-chr3:51973904..51976278,4	MCF-7	breast:
4	chr3:51967929..51972024-chr3:51972365..51975961,5	MCF-7	breast:
5	chr3:51965328..51968985-chr3:51969844..51971863,5	K562	blood:
6	chr3:51970192..51973030-chr3:51997697..51999602,2	K562	blood:

No data

Variant related genes	Relation type
PARP3	TF binding region
ENSG00000114767	Chromatin interaction
ENSG00000090097	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10433611	1.00[AMR][1000 genomes]
rs1505403	1.00[MEX][hapmap]
rs1587921	1.00[MEX][hapmap]
rs2089225	1.00[AMR][1000 genomes]
rs323875	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs323876	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs323882	1.00[AFR][1000 genomes]
rs323883	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs323888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323889	1.00[MEX][hapmap]
rs323900	1.00[MEX][hapmap]
rs323901	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352646	1.00[AMR][1000 genomes]
rs35898691	1.00[AMR][1000 genomes]
rs380945	1.00[AFR][1000 genomes]
rs386240	1.00[AFR][1000 genomes]
rs433823	1.00[MEX][hapmap]
rs57236484	1.00[AMR][1000 genomes]
rs59196507	1.00[AMR][1000 genomes]
rs61333587	1.00[AMR][1000 genomes]
rs6446153	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs72955239	1.00[AMR][1000 genomes]
rs72955243	1.00[AMR][1000 genomes]
rs72955259	1.00[AMR][1000 genomes]
rs72955260	1.00[AMR][1000 genomes]
rs72955262	1.00[AMR][1000 genomes]
rs72964041	1.00[AMR][1000 genomes]
rs7430706	1.00[AMR][1000 genomes]
rs7612847	1.00[AMR][1000 genomes]
rs973948	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv590280	chr3:51967439-51978327	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51960600-51974400	Weak transcription	Fetal Brain Male	brain
2	chr3:51962600-51973200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:51963800-51974400	Weak transcription	Right Atrium	heart
4	chr3:51964000-51972800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:51964400-51972600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:51964400-51973200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:51964400-51973600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:51964400-51973600	Strong transcription	Thymus	Thymus
9	chr3:51964600-51972800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:51964800-51973600	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:51965000-51972600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:51965000-51972800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:51965000-51972800	Strong transcription	Liver	Liver
14	chr3:51965000-51973400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:51965000-51973400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:51965000-51973400	Strong transcription	Brain Cingulate Gyrus	brain
17	chr3:51965000-51973400	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr3:51965000-51973600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:51965000-51973600	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:51965000-51973600	Strong transcription	Fetal Stomach	stomach
21	chr3:51965000-51973600	Strong transcription	Lung	lung
22	chr3:51965200-51973000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:51965200-51973600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:51965200-51974200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:51965200-51974600	Strong transcription	Fetal Intestine Small	intestine
26	chr3:51965400-51972800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:51965600-51973400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:51965800-51972600	Strong transcription	Ovary	ovary
29	chr3:51965800-51973200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:51965800-51973200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:51965800-51973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:51965800-51973400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:51965800-51973600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:51965800-51974000	Strong transcription	NHEK	skin
35	chr3:51965800-51974400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:51966000-51972800	Strong transcription	Pancreas	Pancrea
37	chr3:51966000-51973600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr3:51966000-51973600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:51966000-51973600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:51966000-51973600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:51966000-51973800	Strong transcription	Osteobl	bone
42	chr3:51966000-51974000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:51966000-51974400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:51966200-51972000	Strong transcription	GM12878-XiMat	blood
45	chr3:51966400-51971800	Strong transcription	Primary B cells from cord blood	blood
46	chr3:51966400-51973400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr3:51966400-51973400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:51966400-51973600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:51966400-51973600	Strong transcription	Brain Anterior Caudate	brain
50	chr3:51966400-51975000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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