Variant report

Variant	rs10076138
Chromosome Location	chr5:95071319-95071320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95070724-95078125	K562	blood:	n/a	n/a
2	POLR2A	chr5:95068796-95071866	MCF-7	breast:	n/a	n/a
3	PML	chr5:95070515-95071429	K562	blood:	n/a	n/a
4	POLR2A	chr5:95064318-95078412	K562	blood:	n/a	n/a
5	POLR2A	chr5:95070939-95071332	K562	blood:	n/a	n/a
6	POLR2A	chr5:95070425-95078474	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95014181..95019210-chr5:95064916..95071420,7	K562	blood:
2	chr5:95032514..95039868-chr5:95065272..95071370,13	MCF-7	breast:
3	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
4	chr5:95069105..95072085-chr5:95091331..95096338,6	MCF-7	breast:
5	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250240	TF binding region
RHOBTB3	TF binding region
ENSG00000145757	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[AMR][1000 genomes]
rs17085133	1.00[AMR][1000 genomes]
rs17085143	1.00[AMR][1000 genomes]
rs17085324	1.00[AMR][1000 genomes]
rs17085331	1.00[AMR][1000 genomes]
rs28469700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AMR][1000 genomes]
rs29000874	1.00[AMR][1000 genomes]
rs29000875	1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AMR][1000 genomes]
rs58023885	1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]
rs889223	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95066200-95071400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:95067400-95071800	Transcr. at gene 5' and 3'	Placenta	Placenta
3	chr5:95067800-95075200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:95068000-95071600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr5:95068200-95073200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:95068200-95073200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:95068200-95074200	Weak transcription	Fetal Thymus	thymus
8	chr5:95068200-95095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:95068400-95071800	Enhancers	Fetal Intestine Small	intestine
10	chr5:95068400-95072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:95068400-95073000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:95068400-95073000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:95068400-95073000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:95068400-95096200	Weak transcription	Aorta	Aorta
15	chr5:95069000-95071400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95069000-95071400	Transcr. at gene 5' and 3'	K562	blood
17	chr5:95069400-95071600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:95069400-95071800	Enhancers	Colonic Mucosa	Colon
19	chr5:95069400-95072400	Enhancers	Brain Substantia Nigra	brain
20	chr5:95069400-95073800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:95069600-95071800	Enhancers	Fetal Lung	lung
22	chr5:95069600-95072200	Enhancers	Fetal Brain Male	brain
23	chr5:95069600-95074000	Weak transcription	Dnd41	blood
24	chr5:95069800-95071400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:95070000-95071400	Enhancers	Brain Germinal Matrix	brain
26	chr5:95070000-95071400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr5:95070000-95071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:95070000-95073000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:95070200-95071600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:95070400-95071400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:95070400-95071800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:95070600-95071400	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:95070600-95071400	Flanking Active TSS	Fetal Heart	heart
34	chr5:95070600-95071400	Transcr. at gene 5' and 3'	NHLF	lung
35	chr5:95070600-95072400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:95070800-95071400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:95070800-95071400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:95070800-95071400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:95070800-95071400	Enhancers	Brain Angular Gyrus	brain
40	chr5:95070800-95071400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:95070800-95071400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr5:95070800-95071600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:95070800-95071600	Enhancers	Fetal Kidney	kidney
44	chr5:95070800-95071600	Enhancers	HepG2	liver
45	chr5:95070800-95071800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:95070800-95071800	Enhancers	Fetal Stomach	stomach
47	chr5:95070800-95072400	Enhancers	Stomach Mucosa	stomach
48	chr5:95070800-95073400	Enhancers	HUVEC	blood vessel
49	chr5:95070800-95075400	Enhancers	Liver	Liver
50	chr5:95071000-95071400	Flanking Active TSS	Brain Anterior Caudate	brain

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