Variant report

Variant	rs73147851
Chromosome Location	chr7:98468526-98468527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr7:98466396-98468568	H1-neurons	neurons:	n/a	chr7:98467655-98467668 chr7:98467177-98467190

No.	Distal block	Cell Line	Cell type
1	chr7:98466520..98468569-chr7:98474869..98476588,2	MCF-7	breast:
2	chr7:98464788..98468535-chr7:98474247..98476816,4	MCF-7	breast:
3	chr7:98464934..98467404-chr7:98467908..98470292,2	K562	blood:

Variant related genes	Relation type
TMEM130	TF binding region
ENSG00000166448	Chromatin interaction
ENSG00000196367	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10487144	0.87[EUR][1000 genomes]
rs11979767	0.87[EUR][1000 genomes]
rs6465726	0.85[EUR][1000 genomes]
rs73145604	0.81[EUR][1000 genomes]
rs73145619	0.85[AMR][1000 genomes]
rs73145620	0.85[AMR][1000 genomes]
rs73147839	1.00[EUR][1000 genomes]
rs73147841	1.00[EUR][1000 genomes]
rs73147844	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147848	1.00[EUR][1000 genomes]
rs73147849	1.00[EUR][1000 genomes]
rs73147853	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147860	0.93[EUR][1000 genomes]
rs73147866	0.93[EUR][1000 genomes]
rs73155610	0.93[EUR][1000 genomes]
rs73155612	0.93[EUR][1000 genomes]
rs73155615	0.93[EUR][1000 genomes]
rs73155617	0.93[EUR][1000 genomes]
rs73155619	0.93[EUR][1000 genomes]
rs73155624	0.87[EUR][1000 genomes]
rs73155626	0.87[EUR][1000 genomes]
rs73155627	0.87[EUR][1000 genomes]
rs73155628	0.87[EUR][1000 genomes]
rs73155630	0.87[EUR][1000 genomes]
rs73155631	0.87[EUR][1000 genomes]
rs73155633	0.87[EUR][1000 genomes]
rs73155637	0.87[EUR][1000 genomes]
rs73155638	0.87[EUR][1000 genomes]
rs73155639	0.87[EUR][1000 genomes]
rs73155641	0.87[EUR][1000 genomes]
rs73155644	0.87[EUR][1000 genomes]
rs73155645	0.87[EUR][1000 genomes]
rs73155648	0.87[EUR][1000 genomes]
rs73155650	0.87[EUR][1000 genomes]
rs73155654	0.87[EUR][1000 genomes]
rs73155657	0.87[EUR][1000 genomes]
rs73155658	0.87[EUR][1000 genomes]
rs73155659	0.87[EUR][1000 genomes]
rs73155663	0.87[EUR][1000 genomes]
rs73161938	0.87[EUR][1000 genomes]
rs73161939	0.87[EUR][1000 genomes]
rs73161940	0.87[EUR][1000 genomes]
rs73161941	0.87[EUR][1000 genomes]
rs73161943	0.87[EUR][1000 genomes]
rs73161944	0.87[EUR][1000 genomes]
rs73161947	0.81[EUR][1000 genomes]
rs73161948	0.81[EUR][1000 genomes]
rs73161949	0.81[EUR][1000 genomes]
rs73161950	0.81[EUR][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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98466200-98468800	Active TSS	Brain Angular Gyrus	brain
2	chr7:98466600-98468600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:98466800-98469000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:98466800-98469200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:98467000-98468800	Enhancers	Fetal Brain Male	brain
6	chr7:98467000-98469000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:98467400-98468600	Bivalent/Poised TSS	Thymus	Thymus
8	chr7:98467600-98468600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:98467800-98468600	Weak transcription	Spleen	Spleen
10	chr7:98468000-98468600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:98468000-98468600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:98468000-98469000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:98468200-98468600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:98468200-98468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:98468200-98468600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
16	chr7:98468200-98468600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:98468200-98468600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:98468200-98468600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr7:98468200-98468800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr7:98468200-98468800	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:98468200-98468800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:98468200-98468800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:98468200-98468800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:98468200-98468800	Weak transcription	Aorta	Aorta
25	chr7:98468200-98468800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:98468200-98468800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr7:98468200-98468800	Bivalent Enhancer	Fetal Thymus	thymus
28	chr7:98468200-98468800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
29	chr7:98468200-98468800	Enhancers	NHLF	lung
30	chr7:98468200-98469000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:98468200-98469000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:98468200-98469000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr7:98468200-98469000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:98468200-98469000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr7:98468200-98469000	Enhancers	A549	lung
36	chr7:98468200-98475600	Weak transcription	Right Atrium	heart
37	chr7:98468400-98468600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:98468400-98468800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr7:98468400-98468800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:98468400-98468800	Enhancers	Primary B cells from cord blood	blood
41	chr7:98468400-98468800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr7:98468400-98468800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:98468400-98468800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr7:98468400-98468800	Flanking Active TSS	Dnd41	blood
45	chr7:98468400-98469000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr7:98468400-98469000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:98468400-98469000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr7:98468400-98469000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr7:98468400-98469000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr7:98468400-98469000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood

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