Variant report

Variant	rs1065571
Chromosome Location	chr18:9860925-9860926
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9860324..9862264-chr18:9862362..9865681,3	K562	blood:
2	chr18:9854851..9856406-chr18:9859476..9861803,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1065575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955759	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2867813	1.00[CEU][hapmap]
rs60181014	0.83[EUR][1000 genomes]
rs7229089	1.00[EUR][1000 genomes];0.86[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	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9832800-9865000	Weak transcription	Spleen	Spleen
2	chr18:9844600-9866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9847200-9864800	Weak transcription	HMEC	breast
4	chr18:9848400-9864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:9850200-9863600	Weak transcription	HSMM	muscle
6	chr18:9850200-9864000	Weak transcription	Left Ventricle	heart
7	chr18:9850200-9866400	Weak transcription	Esophagus	oesophagus
8	chr18:9850200-9869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:9850400-9862600	Weak transcription	HSMMtube	muscle
10	chr18:9850400-9867000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr18:9850800-9865200	Weak transcription	Adipose Nuclei	Adipose
12	chr18:9851000-9866400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:9851600-9864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:9851800-9868600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9852800-9863800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9853000-9863800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:9853800-9864600	Weak transcription	NHEK	skin
18	chr18:9854800-9865600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:9855200-9866000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9856000-9864600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:9856000-9869200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:9856000-9869600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:9856400-9862200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:9856400-9862800	Weak transcription	Lung	lung
25	chr18:9856400-9869200	Weak transcription	Pancreas	Pancrea
26	chr18:9856600-9866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:9856800-9861600	Weak transcription	Fetal Stomach	stomach
28	chr18:9856800-9861800	Weak transcription	Brain Anterior Caudate	brain
29	chr18:9856800-9862200	Weak transcription	Brain Substantia Nigra	brain
30	chr18:9856800-9863400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr18:9856800-9869800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr18:9857200-9861600	Weak transcription	HepG2	liver
33	chr18:9857400-9869800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:9857800-9862600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:9857800-9863800	Strong transcription	Hela-S3	cervix
36	chr18:9857800-9864400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr18:9858000-9863800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr18:9858200-9864000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:9858800-9861000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr18:9858800-9861800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr18:9858800-9862000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:9858800-9863000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr18:9858800-9863800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:9859000-9861800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:9859000-9862400	Strong transcription	Osteobl	bone
46	chr18:9859000-9864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr18:9859000-9864800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:9859200-9861400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:9859200-9861800	Weak transcription	Psoas Muscle	Psoas
50	chr18:9859200-9862800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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