Variant report

Variant	rs894682
Chromosome Location	chr17:19442432-19442433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19440630..19443523-chr17:19445687..19447699,2	MCF-7	breast:
2	chr17:19440634..19444214-chr17:19454168..19459092,4	MCF-7	breast:
3	chr17:19439739..19442461-chr17:19442717..19444481,2	MCF-7	breast:
4	chr17:19434855..19439000-chr17:19439290..19443367,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142494	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11871125	0.88[ASN][1000 genomes]
rs2252281	0.97[ASN][1000 genomes]
rs2440164	0.82[ASN][1000 genomes]
rs2440165	0.83[ASN][1000 genomes]
rs2453580	0.96[ASN][1000 genomes]
rs2453581	0.96[ASN][1000 genomes]
rs2453582	0.96[ASN][1000 genomes]
rs2453583	0.97[ASN][1000 genomes]
rs2453584	0.96[ASN][1000 genomes]
rs2920450	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs894680	0.97[ASN][1000 genomes]

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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19438200-19446800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:19438400-19443200	Weak transcription	Lung	lung
3	chr17:19438400-19445600	Weak transcription	A549	lung
4	chr17:19438400-19454400	Weak transcription	Aorta	Aorta
5	chr17:19438400-19456200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:19438800-19446000	Enhancers	Liver	Liver
7	chr17:19440000-19443400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:19441000-19442600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr17:19441000-19442800	Enhancers	Brain Cingulate Gyrus	brain
10	chr17:19441000-19442800	Enhancers	Fetal Brain Male	brain
11	chr17:19441000-19442800	Enhancers	Fetal Intestine Large	intestine
12	chr17:19441200-19442600	Enhancers	Fetal Intestine Small	intestine
13	chr17:19441200-19442600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr17:19441200-19443600	Enhancers	Brain Hippocampus Middle	brain
15	chr17:19441200-19444400	Enhancers	Fetal Muscle Leg	muscle
16	chr17:19441400-19442600	Enhancers	Duodenum Mucosa	Duodenum
17	chr17:19441400-19442600	Flanking Active TSS	HepG2	liver
18	chr17:19441400-19442800	Enhancers	Brain Anterior Caudate	brain
19	chr17:19441600-19442600	Weak transcription	Brain Germinal Matrix	brain
20	chr17:19441600-19442600	Enhancers	Fetal Heart	heart
21	chr17:19441600-19443400	Weak transcription	Fetal Brain Female	brain
22	chr17:19441800-19442600	Enhancers	Brain Angular Gyrus	brain
23	chr17:19441800-19442800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:19442000-19442600	Enhancers	Brain Substantia Nigra	brain
25	chr17:19442000-19442800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:19442000-19447600	Weak transcription	Spleen	Spleen
27	chr17:19442000-19448000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr17:19442200-19443600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:19442200-19447400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:19442400-19442800	Weak transcription	Psoas Muscle	Psoas
31	chr17:19442400-19443400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:19442400-19443400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:19442400-19447400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr17:19442400-19451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:19442400-19451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:19442400-19451400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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