Variant report

Variant	rs9909548
Chromosome Location	chr17:38325822-38325823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38318180..38321775-chr17:38324407..38330076,5	K562	blood:
2	chr17:38278469..38281031-chr17:38324957..38326771,2	MCF-7	breast:
3	chr17:38325366..38326317-chr19:39897219..39898050,2	Hela-S3	cervix:
4	chr17:38323739..38327546-chr17:38333419..38336567,4	MCF-7	breast:
5	chr17:38277696..38279723-chr17:38323244..38326334,3	K562	blood:

Variant related genes	Relation type
ENSG00000108352	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28410661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28750099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206995	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896339	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9904120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9906274	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9910546	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911936	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 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	chr17:38297800-38333000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:38298000-38330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:38298000-38330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
6	chr17:38298600-38332200	Strong transcription	Fetal Intestine Small	intestine
7	chr17:38308200-38333200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:38314200-38333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:38314800-38333200	Weak transcription	Right Atrium	heart
10	chr17:38315400-38327800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:38315400-38331000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:38315400-38331400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:38315600-38333000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:38315600-38333000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:38315800-38331400	Strong transcription	Fetal Intestine Large	intestine
16	chr17:38316000-38330000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:38316200-38333200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr17:38316400-38331400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:38316600-38328800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr17:38317000-38333000	Strong transcription	Spleen	Spleen
21	chr17:38317200-38330600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:38317200-38331000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:38317200-38333200	Strong transcription	Thymus	Thymus
24	chr17:38317400-38330400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:38317400-38331200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:38317400-38331400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr17:38317400-38333400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:38317400-38333800	Strong transcription	Dnd41	blood
29	chr17:38317600-38329800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:38317600-38330400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:38317600-38330400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr17:38317600-38333000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:38317600-38333000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:38317600-38333200	Strong transcription	Left Ventricle	heart
35	chr17:38317800-38330000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:38317800-38330200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr17:38317800-38330400	Strong transcription	GM12878-XiMat	blood
38	chr17:38317800-38330600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:38317800-38331400	Strong transcription	Lung	lung
40	chr17:38317800-38332800	Strong transcription	Brain Hippocampus Middle	brain
41	chr17:38318000-38328400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr17:38318000-38329000	Strong transcription	HUVEC	blood vessel
43	chr17:38318000-38331400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:38318000-38331400	Strong transcription	Brain Germinal Matrix	brain
45	chr17:38320600-38332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:38321400-38331000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr17:38322200-38330000	Strong transcription	Primary B cells from cord blood	blood
48	chr17:38322400-38328200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr17:38322400-38332000	Strong transcription	Fetal Brain Female	brain
50	chr17:38322400-38333200	Weak transcription	Psoas Muscle	Psoas

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