Variant report

Variant	rs17085067
Chromosome Location	chr5:95122022-95122023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95121898-95122212	MCF-7	breast:	n/a	n/a
2	POLR2A	chr5:95121083-95122520	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:95116455..95117958-chr5:95120656..95123513,2	K562	blood:
2	chr5:95121555..95123251-chr5:95170355..95172672,2	MCF-7	breast:
3	chr5:95113691..95116957-chr5:95119419..95122737,4	MCF-7	breast:
4	chr5:95107548..95110514-chr5:95121427..95123562,2	K562	blood:
5	chr5:95120707..95122850-chr5:95124807..95126712,2	K562	blood:

No data

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000251000	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]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	0.87[YRI][hapmap];0.88[AFR][1000 genomes];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	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:95096400-95125400	Weak transcription	Small Intestine	intestine
4	chr5:95096600-95129800	Weak transcription	Colonic Mucosa	Colon
5	chr5:95105000-95131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:95105800-95122200	Weak transcription	Fetal Brain Female	brain
7	chr5:95106400-95127400	Weak transcription	Fetal Brain Male	brain
8	chr5:95107200-95122400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:95109600-95123800	Weak transcription	HepG2	liver
10	chr5:95115000-95130200	Strong transcription	K562	blood
11	chr5:95115400-95123800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:95115400-95127600	Weak transcription	Lung	lung
13	chr5:95115400-95127600	Weak transcription	Spleen	Spleen
14	chr5:95115400-95129400	Weak transcription	Pancreas	Pancrea
15	chr5:95115400-95137800	Weak transcription	Right Atrium	heart
16	chr5:95115400-95138600	Weak transcription	Gastric	stomach
17	chr5:95115400-95139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
19	chr5:95115600-95134000	Strong transcription	HSMM	muscle
20	chr5:95115800-95133800	Weak transcription	HUVEC	blood vessel
21	chr5:95116800-95123800	Weak transcription	Left Ventricle	heart
22	chr5:95117200-95124000	Weak transcription	Brain Angular Gyrus	brain
23	chr5:95117200-95124200	Weak transcription	A549	lung
24	chr5:95117200-95125600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:95117200-95133600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:95117200-95143000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:95117200-95143200	Weak transcription	Primary T cells from cord blood	blood
28	chr5:95117200-95143400	Weak transcription	Thymus	Thymus
29	chr5:95117400-95125200	Weak transcription	GM12878-XiMat	blood
30	chr5:95117400-95129600	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:95117400-95130000	Strong transcription	Fetal Muscle Leg	muscle
32	chr5:95117400-95131800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:95119000-95133400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:95119400-95124000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:95119400-95124600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr5:95119400-95129200	Strong transcription	NH-A	brain
38	chr5:95119400-95129800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:95119400-95130200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr5:95119400-95133400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:95119600-95129600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:95119800-95123800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:95119800-95124200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:95119800-95124600	Strong transcription	Fetal Intestine Large	intestine
45	chr5:95120000-95124400	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:95120200-95123600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:95120200-95133200	Weak transcription	Fetal Kidney	kidney
48	chr5:95120400-95123000	Genic enhancers	Osteobl	bone
49	chr5:95120600-95123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:95120800-95122200	Weak transcription	Ovary	ovary

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