Variant report

Variant	rs10305284
Chromosome Location	chr17:38601598-38601599
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38516138..38520860-chr17:38599243..38602533,5	K562	blood:
3	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
4	chr17:38507026..38508719-chr17:38598987..38601879,2	K562	blood:
5	chr17:38471466..38480107-chr17:38600254..38606378,11	MCF-7	breast:
6	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
7	chr17:38600534..38602477-chr17:38644496..38646702,2	K562	blood:
8	chr17:38601392..38604207-chr17:38609285..38611713,3	K562	blood:
9	chr17:38600670..38603661-chr17:38683686..38685689,3	MCF-7	breast:
10	chr17:38573555..38575286-chr17:38600280..38602539,2	MCF-7	breast:
11	chr17:38600647..38602371-chr17:38712031..38713969,2	K562	blood:
12	chr17:38600130..38602545-chr17:38675909..38679796,4	MCF-7	breast:
13	chr17:38599719..38603336-chr17:38637091..38642832,5	MCF-7	breast:
14	chr17:38599782..38601968-chr20:52556470..52558647,2	MCF-7	breast:
15	chr17:38517632..38520244-chr17:38599613..38602533,3	K562	blood:
16	chr17:38600754..38602507-chr17:38629659..38632634,3	K562	blood:
17	chr17:38600239..38603035-chr17:38630474..38632189,2	MCF-7	breast:
18	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
19	chr17:38477561..38480066-chr17:38600149..38601778,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236352	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000266208	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11871146	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12939120	1.00[EUR][1000 genomes]
rs34667733	1.00[EUR][1000 genomes]
rs58292904	1.00[EUR][1000 genomes]
rs7208555	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212482	1.00[EUR][1000 genomes]
rs73309055	1.00[EUR][1000 genomes]
rs8077355	1.00[EUR][1000 genomes]
rs9901260	0.93[AFR][1000 genomes];0.93[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38598800-38601800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:38599000-38601600	Active TSS	Esophagus	oesophagus
3	chr17:38599000-38602000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:38599000-38602200	Active TSS	Brain Anterior Caudate	brain
5	chr17:38599000-38602400	Active TSS	Psoas Muscle	Psoas
6	chr17:38599000-38602800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr17:38599000-38602800	Active TSS	Ovary	ovary
8	chr17:38599200-38601800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:38599200-38601800	Enhancers	Fetal Brain Male	brain
10	chr17:38599200-38601800	Active TSS	Rectal Smooth Muscle	rectum
11	chr17:38599200-38602200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr17:38599200-38602400	Active TSS	Lung	lung
13	chr17:38599200-38602800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:38599200-38603000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:38599200-38603000	Active TSS	Right Atrium	heart
16	chr17:38599400-38601600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:38599400-38601600	Active TSS	Stomach Smooth Muscle	stomach
18	chr17:38599400-38601600	Active TSS	HSMMtube	muscle
19	chr17:38599400-38601800	Active TSS	NHLF	lung
20	chr17:38599400-38602000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr17:38599400-38602200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:38599400-38602200	Active TSS	Colon Smooth Muscle	Colon
23	chr17:38599400-38602800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr17:38599400-38603000	Active TSS	Left Ventricle	heart
25	chr17:38599600-38602200	Active TSS	Fetal Brain Female	brain
26	chr17:38599600-38602200	Active TSS	Gastric	stomach
27	chr17:38600000-38601600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr17:38600000-38602000	Flanking Active TSS	GM12878-XiMat	blood
29	chr17:38600000-38602000	Flanking Active TSS	HMEC	breast
30	chr17:38600200-38601600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:38600200-38601800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr17:38600200-38601800	Flanking Active TSS	Fetal Heart	heart
33	chr17:38600200-38602000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:38600200-38602200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr17:38600200-38602200	Flanking Active TSS	Dnd41	blood
36	chr17:38600200-38602200	Flanking Active TSS	NH-A	brain
37	chr17:38600200-38605600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr17:38600200-38609800	Transcr. at gene 5' and 3'	A549	lung
39	chr17:38600400-38601800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr17:38600400-38601800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:38600400-38601800	Flanking Active TSS	Fetal Lung	lung
42	chr17:38600400-38602000	Flanking Active TSS	K562	blood
43	chr17:38600400-38602200	Enhancers	Primary hematopoietic stem cells	blood
44	chr17:38600400-38602200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:38600400-38602200	Flanking Active TSS	HSMM	muscle
46	chr17:38600400-38602600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:38600400-38603000	Active TSS	Right Ventricle	heart
48	chr17:38600400-38603200	Active TSS	Pancreas	Pancrea
49	chr17:38600600-38601600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr17:38600600-38601600	Bivalent/Poised TSS	Thymus	Thymus

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