Variant report

Variant	rs944343
Chromosome Location	chr9:116360971-116360972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
2	chr9:116173212..116174744-chr9:116360049..116362132,2	K562	blood:
3	chr9:116355462..116357757-chr9:116360945..116362836,2	K562	blood:
4	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
5	chr9:116358642..116361226-chr9:116416793..116418953,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1051013	0.88[EUR][1000 genomes]
rs10817493	0.80[EUR][1000 genomes]
rs12350531	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs2812398	1.00[ASN][1000 genomes]
rs482318	1.00[ASN][1000 genomes]
rs518636	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs561305	1.00[ASN][1000 genomes]
rs567743	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568557	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585689	1.00[ASN][1000 genomes]
rs587614	1.00[ASN][1000 genomes]
rs591426	1.00[ASN][1000 genomes]
rs656311	1.00[ASN][1000 genomes]
rs7048208	0.82[YRI][hapmap]
rs785099	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116348000-116361600	Weak transcription	Dnd41	blood
2	chr9:116352400-116363200	Weak transcription	Thymus	Thymus
3	chr9:116353200-116361000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:116353200-116361400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:116353400-116361400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:116356400-116361200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr9:116356600-116361000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr9:116356600-116362000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr9:116356800-116361400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr9:116356800-116362600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:116357000-116361400	Strong transcription	Primary T cells from cord blood	blood
12	chr9:116357000-116361600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:116357200-116361400	Strong transcription	Primary B cells from cord blood	blood
14	chr9:116357400-116361000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:116357600-116362000	Weak transcription	Fetal Brain Male	brain
18	chr9:116357600-116362200	Weak transcription	A549	lung
19	chr9:116357800-116363000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:116358000-116361000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr9:116358000-116361200	Strong transcription	Fetal Intestine Large	intestine
23	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:116358200-116361200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116358200-116361600	Genic enhancers	Spleen	Spleen
26	chr9:116358200-116362400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:116358200-116362800	Strong transcription	Fetal Intestine Small	intestine
28	chr9:116358400-116362000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr9:116358400-116363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:116358600-116361200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:116358800-116362600	Enhancers	Fetal Heart	heart
32	chr9:116359200-116361000	Strong transcription	Brain Germinal Matrix	brain
33	chr9:116359200-116361400	Genic enhancers	Lung	lung
34	chr9:116359200-116361800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr9:116359200-116363400	Enhancers	Psoas Muscle	Psoas
36	chr9:116359400-116361800	Weak transcription	HepG2	liver
37	chr9:116359600-116361200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:116359600-116361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:116359600-116361600	Genic enhancers	HSMM	muscle
40	chr9:116359600-116363000	Genic enhancers	Fetal Stomach	stomach
41	chr9:116359600-116363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:116359800-116361000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:116359800-116361200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:116359800-116361400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr9:116359800-116362800	Weak transcription	Ovary	ovary
46	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:116360000-116361200	Genic enhancers	NHEK	skin
48	chr9:116360000-116362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:116360000-116364000	Genic enhancers	NHLF	lung
50	chr9:116360000-116364200	Weak transcription	Fetal Thymus	thymus

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