Variant report

Variant	rs17648797
Chromosome Location	chr1:150338002-150338003
allele	C/G
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150309217..150316448-chr1:150334640..150338012,6	MCF-7	breast:
2	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
3	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
4	chr1:150336412..150338201-chr1:150550353..150552096,2	MCF-7	breast:
5	chr1:150264985..150267116-chr1:150337062..150338980,2	MCF-7	breast:
6	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
7	chr1:150240117..150242604-chr1:150335915..150338709,4	MCF-7	breast:
8	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
9	chr1:150335804..150338048-chr1:151030580..151033260,2	MCF-7	breast:
10	chr1:150206375..150207143-chr1:150337952..150338470,2	Hela-S3	cervix:
11	chr1:150208070..150208615-chr1:150337528..150338154,2	Hela-S3	cervix:
12	chr1:150205245..150207369-chr1:150337736..150339520,2	MCF-7	breast:
13	chr1:150336951..150339274-chr1:150551327..150552882,2	K562	blood:
14	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
15	chr1:150337281..150338787-chr1:150408610..150410378,2	MCF-7	breast:
16	chr1:149908788..149910913-chr1:150337065..150338725,2	MCF-7	breast:
17	chr1:150265074..150268122-chr1:150334427..150338986,4	K562	blood:
18	chr1:150336147..150338066-chr1:150480366..150481943,2	MCF-7	breast:
19	chr1:150337553..150340155-chr11:65265008..65266738,2	MCF-7	breast:
20	chr1:150337113..150338018-chr3:52570346..52571261,2	Hela-S3	cervix:
21	chr1:150337730..150338547-chr11:61559637..61560226,2	Hela-S3	cervix:
22	chr1:150263378..150268409-chr1:150334980..150339088,9	MCF-7	breast:
23	chr1:150317407..150321765-chr1:150335542..150338670,5	MCF-7	breast:
24	chr1:150318464..150321936-chr1:150334221..150338705,5	MCF-7	breast:
25	chr1:150336131..150338597-chr1:150480002..150483403,3	MCF-7	breast:
26	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
27	chr1:150335444..150338410-chr1:150897207..150899165,2	MCF-7	breast:
28	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
29	chr1:150265389..150267976-chr1:150336270..150338986,2	K562	blood:
30	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
31	chr1:150337317..150338203-chr11:62608512..62609197,2	Hela-S3	cervix:
32	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000168273	Chromatin interaction
ENSG00000168496	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000134825	Chromatin interaction
ENSG00000207601	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143369	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1040008	1.00[AFR][1000 genomes]
rs12401456	0.83[AFR][1000 genomes]
rs17648533	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649760	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3738488	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150334800-150339800	Active TSS	Thymus	Thymus
2	chr1:150335200-150338400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150335200-150339200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:150335200-150339200	Active TSS	Duodenum Mucosa	Duodenum
5	chr1:150335200-150339400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:150335200-150339600	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:150335400-150338600	Active TSS	Brain Hippocampus Middle	brain
8	chr1:150335400-150338800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:150335400-150338800	Active TSS	Esophagus	oesophagus
10	chr1:150335400-150339000	Active TSS	Fetal Brain Female	brain
11	chr1:150335400-150339200	Active TSS	Colonic Mucosa	Colon
12	chr1:150335400-150339400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:150335400-150339400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:150335400-150339400	Active TSS	Pancreas	Pancrea
15	chr1:150335400-150339600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:150335400-150339600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:150335400-150339600	Active TSS	Fetal Intestine Small	intestine
18	chr1:150335400-150339600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:150335600-150338400	Active TSS	Colon Smooth Muscle	Colon
20	chr1:150335600-150338800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:150335600-150338800	Active TSS	Lung	lung
22	chr1:150335600-150338800	Active TSS	Small Intestine	intestine
23	chr1:150335600-150339000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:150335600-150339000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr1:150335600-150339200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:150335600-150339200	Active TSS	Stomach Mucosa	stomach
27	chr1:150335600-150339400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:150335600-150339600	Active TSS	Aorta	Aorta
29	chr1:150335600-150339600	Active TSS	Left Ventricle	heart
30	chr1:150335600-150339600	Active TSS	Ovary	ovary
31	chr1:150335600-150339600	Active TSS	Psoas Muscle	Psoas
32	chr1:150335600-150339600	Active TSS	Right Atrium	heart
33	chr1:150335600-150339800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:150335600-150339800	Active TSS	Right Ventricle	heart
35	chr1:150335600-150340000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:150335600-150340000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:150335800-150338400	Active TSS	Liver	Liver
38	chr1:150335800-150338400	Active TSS	Brain Anterior Caudate	brain
39	chr1:150335800-150338400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr1:150335800-150338400	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:150335800-150338600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:150335800-150338600	Active TSS	Brain Substantia Nigra	brain
43	chr1:150335800-150338600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:150335800-150338600	Active TSS	HSMM	muscle
45	chr1:150335800-150339000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:150335800-150339000	Active TSS	Fetal Lung	lung
47	chr1:150335800-150339000	Active TSS	Placenta	Placenta
48	chr1:150335800-150339000	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:150335800-150339200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr1:150335800-150339200	Active TSS	Brain Cingulate Gyrus	brain

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