Variant report

Variant	rs2234384
Chromosome Location	chr3:49846652-49846653
allele	A/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	chr3:49846294-49846891	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:49846268-49846795	GM12892	blood:	n/a	n/a
3	POLR2A	chr3:49846359-49846901	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:49846340-49846827	GM12892	blood:	n/a	n/a
5	POLR2A	chr3:49846402-49846765	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49838468..49840938-chr3:49845462..49847993,2	MCF-7	breast:

Variant related genes	Relation type
MIR5193	TF binding region
UBA7	TF binding region
ENSG00000185614	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72936059	0.80[AFR][1000 genomes]
rs72938108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938113	0.86[AFR][1000 genomes]
rs72938138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv967270	chr3:49845381-49870409	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49841400-49847000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr3:49841600-49850400	Weak transcription	Small Intestine	intestine
3	chr3:49842000-49850600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:49843400-49866400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:49843600-49846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:49843600-49850400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:49843600-49850600	Weak transcription	HSMM	muscle
8	chr3:49843600-49850800	Weak transcription	Psoas Muscle	Psoas
9	chr3:49844000-49847600	Genic enhancers	Fetal Thymus	thymus
10	chr3:49844000-49850200	Weak transcription	NHDF-Ad	bronchial
11	chr3:49844200-49846800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:49844200-49846800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:49844200-49847000	Genic enhancers	Fetal Stomach	stomach
14	chr3:49844400-49850200	Genic enhancers	Spleen	Spleen
15	chr3:49844800-49846800	Weak transcription	Brain Anterior Caudate	brain
16	chr3:49844800-49847400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:49844800-49849400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:49845000-49847000	Genic enhancers	Liver	Liver
19	chr3:49845000-49849600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:49845000-49850600	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr3:49845000-49850600	Weak transcription	NH-A	brain
22	chr3:49845200-49847800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:49845200-49848600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:49845200-49850000	Strong transcription	Colonic Mucosa	Colon
25	chr3:49845400-49846800	Weak transcription	NHLF	lung
26	chr3:49845400-49847000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:49845400-49847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:49845400-49849600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:49845400-49849800	Weak transcription	Brain Substantia Nigra	brain
30	chr3:49845400-49850000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:49845400-49850000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:49845400-49850000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:49845400-49850000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:49845400-49850000	Weak transcription	Stomach Mucosa	stomach
35	chr3:49845400-49850600	Weak transcription	HepG2	liver
36	chr3:49845600-49847000	Weak transcription	Left Ventricle	heart
37	chr3:49845600-49847200	Genic enhancers	Lung	lung
38	chr3:49845600-49849000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:49845600-49849200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr3:49845600-49849600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:49845600-49850000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:49845600-49850000	Weak transcription	HMEC	breast
43	chr3:49845600-49850600	Weak transcription	HUVEC	blood vessel
44	chr3:49845600-49850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:49845800-49846800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:49845800-49846800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:49845800-49847000	Genic enhancers	Fetal Lung	lung
48	chr3:49845800-49848400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:49845800-49848600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:49845800-49849000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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