Variant report

Variant	rs17445028
Chromosome Location	chr10:94271176-94271177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94268762..94273996-chr10:94332420..94336141,6	MCF-7	breast:
2	chr10:94271122..94273311-chr10:94351140..94352702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11187009	0.86[ASN][1000 genomes]
rs11187025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187031	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187032	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187064	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11187065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187067	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187069	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187070	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12356508	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12358677	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12776190	0.81[AMR][1000 genomes]
rs17445328	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35120790	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35616984	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4646953	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4646955	0.86[ASN][1000 genomes]
rs56289118	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61861406	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72811205	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv551924	chr10:94212742-94290484	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv551925	chr10:94224165-94288429	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1802816	chr10:94232247-94294291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17445028	PIPSL	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94208400-94276800	Weak transcription	Stomach Mucosa	stomach
2	chr10:94230000-94276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:94230400-94276400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:94239600-94280400	Weak transcription	Fetal Brain Male	brain
5	chr10:94244000-94303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:94250000-94272400	Weak transcription	Fetal Brain Female	brain
7	chr10:94250200-94271400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:94250200-94289400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:94250200-94295200	Weak transcription	Pancreas	Pancrea
10	chr10:94250200-94297200	Weak transcription	Brain Germinal Matrix	brain
11	chr10:94250200-94313800	Weak transcription	Brain Substantia Nigra	brain
12	chr10:94250400-94271200	Weak transcription	K562	blood
13	chr10:94250400-94271400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:94250400-94271600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr10:94250400-94272000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:94250400-94301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:94250400-94307400	Weak transcription	Spleen	Spleen
18	chr10:94250800-94271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:94250800-94276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:94250800-94276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:94252000-94275000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr10:94252400-94274800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:94252600-94302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:94257400-94272400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:94257600-94289400	Weak transcription	Right Ventricle	heart
26	chr10:94259400-94289000	Weak transcription	NH-A	brain
27	chr10:94259800-94273600	Weak transcription	HMEC	breast
28	chr10:94260000-94296800	Weak transcription	Esophagus	oesophagus
29	chr10:94261600-94274800	Strong transcription	Dnd41	blood
30	chr10:94261800-94273000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:94262000-94289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:94262000-94297600	Weak transcription	Psoas Muscle	Psoas
33	chr10:94262000-94307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:94262400-94276800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:94264200-94295000	Weak transcription	Small Intestine	intestine
36	chr10:94265000-94274000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:94265800-94276400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr10:94265800-94290400	Weak transcription	Osteobl	bone
39	chr10:94266000-94271400	Weak transcription	Primary T cells from cord blood	blood
40	chr10:94266000-94273600	Weak transcription	Hela-S3	cervix
41	chr10:94266800-94274800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr10:94267000-94274800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:94267200-94274600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:94267200-94283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:94267600-94297400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:94267600-94314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:94267800-94271800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
49	chr10:94268000-94271400	Weak transcription	HSMM	muscle
50	chr10:94268000-94313800	Weak transcription	Colon Smooth Muscle	Colon

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