Variant report

Variant	rs2069433
Chromosome Location	chr5:68467507-68467508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68466904-68467781	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:68466951-68467912	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:68467189-68467644	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:68465959-68468198	U87	brain:	n/a	n/a
5	POLR2A	chr5:68466729-68467541	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:68466071-68468588	K562	blood:	n/a	n/a
7	POLR2A	chr5:68467473-68467762	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:68467443-68468070	K562	blood:	n/a	n/a
9	POLR2A	chr5:68466805-68467694	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:68393389..68395776-chr5:68467195..68469361,2	K562	blood:
2	chr5:68467066..68470056-chr5:68482970..68485828,3	MCF-7	breast:
3	chr5:68465113..68468110-chr5:68478273..68481961,4	MCF-7	breast:
4	chr5:68463334..68467714-chr5:68469560..68473881,5	MCF-7	breast:
5	chr5:68452099..68454629-chr5:68466441..68468788,2	K562	blood:
6	chr5:68467290..68468802-chr5:68483135..68485680,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCNB1	TF binding region
ENSG00000153044	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000238334	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10940206	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12657418	0.80[ASN][1000 genomes]
rs2054977	0.80[ASN][1000 genomes]
rs338685	0.93[JPT][hapmap]
rs3934529	0.81[AMR][1000 genomes]
rs4443380	0.85[ASN][1000 genomes]
rs4976158	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4976175	0.82[ASN][1000 genomes]
rs55677085	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60113639	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60824482	0.80[ASN][1000 genomes]
rs73121291	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125214	0.89[AMR][1000 genomes]
rs73125295	0.83[AMR][1000 genomes]
rs73127319	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73127323	0.80[ASN][1000 genomes]
rs73127331	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7733529	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2069433	CCDC125	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68463600-68468800	Weak transcription	Aorta	Aorta
2	chr5:68463600-68470000	Weak transcription	Ovary	ovary
3	chr5:68463800-68470800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:68464000-68468000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:68464000-68469000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:68464000-68470000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:68464000-68470000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:68464000-68470000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:68464000-68470000	Weak transcription	Placenta	Placenta
13	chr5:68464000-68470000	Weak transcription	Spleen	Spleen
14	chr5:68464000-68470200	Weak transcription	Brain Substantia Nigra	brain
15	chr5:68464000-68470200	Weak transcription	Lung	lung
16	chr5:68464000-68470800	Weak transcription	Liver	Liver
17	chr5:68464000-68470800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:68464000-68471000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:68464000-68472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:68464000-68473000	Weak transcription	Esophagus	oesophagus
21	chr5:68464000-68473400	Weak transcription	Fetal Brain Male	brain
22	chr5:68464000-68475000	Weak transcription	Colonic Mucosa	Colon
23	chr5:68464000-68476200	Weak transcription	Stomach Mucosa	stomach
24	chr5:68464000-68478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:68464000-68478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:68464000-68484400	Weak transcription	Pancreas	Pancrea
27	chr5:68464000-68484600	Weak transcription	Right Atrium	heart
28	chr5:68464200-68467600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:68464200-68467800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:68464200-68468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:68464200-68470000	Weak transcription	Gastric	stomach
32	chr5:68464200-68470800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:68464200-68470800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:68464200-68471000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr5:68464200-68474000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr5:68464200-68474000	Weak transcription	Small Intestine	intestine
37	chr5:68464200-68474600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:68464200-68484600	Weak transcription	Left Ventricle	heart
39	chr5:68464400-68467800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:68464400-68469200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:68464400-68470600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:68464400-68470800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:68464400-68471000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:68464400-68473200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:68464400-68473200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:68464400-68473600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:68464400-68479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:68464400-68484400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:68464600-68467600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:68464600-68468400	Weak transcription	Primary T cells from cord blood	blood

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