Variant report

Variant	rs1706822
Chromosome Location	chr15:45478583-45478584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
2	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
3	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
4	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
5	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
6	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
7	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
8	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:
9	chr15:45464668..45467281-chr15:45477714..45479302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138606	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10467979	0.80[AMR][1000 genomes]
rs11634794	0.86[AMR][1000 genomes]
rs11855466	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12323957	0.80[EUR][1000 genomes]
rs12438755	0.82[EUR][1000 genomes]
rs12899786	0.85[EUR][1000 genomes]
rs12902212	0.80[EUR][1000 genomes]
rs12904079	0.97[EUR][1000 genomes]
rs12905053	0.80[EUR][1000 genomes]
rs13329228	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1648287	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1648289	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1648302	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1648311	0.83[EUR][1000 genomes]
rs1648316	0.81[EUR][1000 genomes]
rs1648319	0.80[EUR][1000 genomes]
rs16940351	0.82[ASN][1000 genomes]
rs1706763	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1706821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1706834	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2292467	0.82[EUR][1000 genomes]
rs2467838	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554455	0.80[AMR][1000 genomes]
rs2554456	0.80[AMR][1000 genomes]
rs2554457	0.80[AMR][1000 genomes]
rs28524974	0.84[AMR][1000 genomes]
rs28526629	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3959644	0.96[EUR][1000 genomes]
rs4514617	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58547297	0.82[ASN][1000 genomes]
rs62026661	0.98[EUR][1000 genomes]
rs62026665	0.94[EUR][1000 genomes]
rs62026666	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	esv3369909	chr15:45478544-45478849	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1706822	CTD-2651B20.1	cis	Artery Tibial	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45460000-45478600	Weak transcription	Thymus	Thymus
2	chr15:45466000-45478800	Weak transcription	Right Ventricle	heart
3	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:45473600-45478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:45473800-45478800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr15:45474000-45478600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:45475400-45478600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:45475600-45478600	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:45475600-45478800	Weak transcription	Stomach Mucosa	stomach
10	chr15:45475800-45479400	Flanking Active TSS	Fetal Brain Female	brain
11	chr15:45476000-45478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:45476000-45478800	Weak transcription	Left Ventricle	heart
13	chr15:45476000-45480200	Weak transcription	K562	blood
14	chr15:45476200-45479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:45476600-45478600	Enhancers	Ovary	ovary
16	chr15:45476600-45479200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr15:45476800-45478600	Enhancers	Colonic Mucosa	Colon
18	chr15:45476800-45479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:45476800-45479400	Flanking Active TSS	HepG2	liver
20	chr15:45477200-45478600	Enhancers	Brain Hippocampus Middle	brain
21	chr15:45477200-45478600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:45477200-45478800	Weak transcription	HMEC	breast
23	chr15:45477200-45479600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr15:45477400-45478600	Enhancers	Brain Angular Gyrus	brain
26	chr15:45477400-45478600	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:45477400-45478800	Enhancers	Spleen	Spleen
28	chr15:45477400-45479000	Enhancers	Dnd41	blood
29	chr15:45477400-45479200	Enhancers	Brain Substantia Nigra	brain
30	chr15:45477400-45479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:45477400-45479800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:45477600-45478800	Weak transcription	Gastric	stomach
33	chr15:45477600-45478800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:45477600-45479200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:45477800-45478600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr15:45477800-45478600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr15:45477800-45478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:45477800-45479400	Flanking Active TSS	HSMM	muscle
39	chr15:45477800-45479600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:45477800-45479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:45478000-45478600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:45478000-45478600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:45478000-45478600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:45478000-45478600	Enhancers	Primary hematopoietic stem cells	blood
45	chr15:45478000-45478600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:45478000-45478600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:45478000-45478600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:45478000-45478800	Enhancers	Fetal Intestine Large	intestine
49	chr15:45478000-45478800	Enhancers	Osteobl	bone
50	chr15:45478000-45479000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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