Variant report

Variant	rs9910546
Chromosome Location	chr17:38302139-38302140
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38301964..38305074-chr17:38307464..38309696,4	K562	blood:
2	chr17:38267549..38271045-chr17:38302108..38305053,4	MCF-7	breast:
3	chr17:38301832..38303776-chr17:38305318..38307003,2	K562	blood:
4	chr17:38301912..38303464-chr17:38307519..38309696,2	K562	blood:
5	chr17:38288149..38291077-chr17:38301519..38303156,2	MCF-7	breast:
6	chr17:38296494..38299896-chr17:38301046..38306469,5	MCF-7	breast:
7	chr17:38294655..38298413-chr17:38301062..38304113,5	MCF-7	breast:
8	chr17:38295531..38298791-chr17:38300358..38304538,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000221555	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28410661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28750099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206995	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896339	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9904120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9906274	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9909548	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911936	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38297400-38304800	Weak transcription	Pancreas	Pancrea
2	chr17:38297600-38303000	Weak transcription	Esophagus	oesophagus
3	chr17:38297600-38303400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:38297600-38304000	Weak transcription	Ovary	ovary
5	chr17:38297600-38304400	Weak transcription	Gastric	stomach
6	chr17:38297600-38306600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:38297600-38313400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:38297600-38318200	Weak transcription	Aorta	Aorta
9	chr17:38297600-38318200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:38297600-38325200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:38297800-38302800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:38297800-38303600	Weak transcription	Psoas Muscle	Psoas
13	chr17:38297800-38305000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:38297800-38309400	Weak transcription	Right Ventricle	heart
15	chr17:38297800-38318400	Weak transcription	Stomach Mucosa	stomach
16	chr17:38297800-38333000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:38298000-38302200	Weak transcription	NH-A	brain
19	chr17:38298000-38303200	Weak transcription	HSMMtube	muscle
20	chr17:38298000-38304800	Weak transcription	Colonic Mucosa	Colon
21	chr17:38298000-38310800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr17:38298000-38311800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:38298000-38324200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:38298000-38330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:38298000-38330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:38298200-38302400	Weak transcription	Brain Substantia Nigra	brain
27	chr17:38298200-38303400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:38298200-38303800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:38298200-38306200	Weak transcription	Fetal Brain Male	brain
30	chr17:38298200-38306400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:38298200-38307400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:38298200-38307600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:38298200-38308400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:38298200-38313000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:38298200-38313600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:38298200-38318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr17:38298200-38318200	Weak transcription	Small Intestine	intestine
38	chr17:38298200-38324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:38298200-38324400	Strong transcription	Fetal Stomach	stomach
40	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
41	chr17:38298400-38302400	Weak transcription	Primary B cells from cord blood	blood
42	chr17:38298400-38303200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr17:38298400-38303400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr17:38298400-38307000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:38298400-38324200	Weak transcription	Fetal Heart	heart
46	chr17:38298600-38303000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:38298600-38303000	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:38298600-38303200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:38298600-38303200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:38298600-38303600	Weak transcription	K562	blood

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