Variant report

Variant	rs55942015
Chromosome Location	chr7:99026970-99026971
allele	A/C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99021211..99022744-chr7:99025529..99028020,2	MCF-7	breast:
2	chr7:99005571..99007892-chr7:99025987..99028381,2	MCF-7	breast:
3	chr7:99026847..99029073-chr7:99029475..99031383,3	K562	blood:
4	chr7:99015297..99018039-chr7:99026570..99029303,2	K562	blood:
5	chr7:99026500..99029422-chr7:99032400..99035110,2	K562	blood:
6	chr7:99019766..99021951-chr7:99025804..99027414,2	MCF-7	breast:
7	chr7:99025112..99027290-chr7:99035346..99038143,2	K562	blood:
8	chr7:99025099..99027768-chr7:99034111..99036844,3	MCF-7	breast:
9	chr7:99020429..99023882-chr7:99024975..99028179,3	K562	blood:
10	chr7:99004290..99006114-chr7:99025633..99027496,2	K562	blood:
11	chr7:99020471..99023882-chr7:99024975..99028185,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106246	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56104955	1.00[AFR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845845	1.00[AMR][1000 genomes]
rs56992635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57467259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs58586429	1.00[AFR][1000 genomes]
rs59346440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60206309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710445	0.86[AFR][1000 genomes]
rs73710452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711289	1.00[AFR][1000 genomes]
rs73711292	1.00[AMR][1000 genomes]
rs73711299	1.00[AMR][1000 genomes]
rs73711300	1.00[AMR][1000 genomes]
rs73713503	1.00[AMR][1000 genomes]
rs73713504	1.00[AMR][1000 genomes]
rs73713510	1.00[AFR][1000 genomes]
rs73713518	0.86[AFR][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99011400-99035000	Weak transcription	Fetal Brain Male	brain
3	chr7:99011600-99032200	Weak transcription	NHDF-Ad	bronchial
4	chr7:99013200-99028800	Strong transcription	Fetal Intestine Small	intestine
5	chr7:99015600-99035200	Weak transcription	Fetal Kidney	kidney
6	chr7:99015600-99035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:99015600-99035600	Weak transcription	Stomach Mucosa	stomach
8	chr7:99016800-99036000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:99017600-99030200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:99017600-99035600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:99017800-99027000	Weak transcription	HUVEC	blood vessel
12	chr7:99018200-99035200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:99018200-99035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:99018400-99035600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:99019000-99027000	Weak transcription	Hela-S3	cervix
16	chr7:99020200-99030000	Weak transcription	HSMM	muscle
17	chr7:99021400-99034400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:99021600-99035200	Weak transcription	HMEC	breast
19	chr7:99022200-99035400	Weak transcription	NH-A	brain
20	chr7:99023000-99027000	Weak transcription	HSMMtube	muscle
21	chr7:99023000-99027800	Weak transcription	Osteobl	bone
22	chr7:99023000-99036000	Weak transcription	Small Intestine	intestine
23	chr7:99025600-99027000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:99025600-99027000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:99025600-99028400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:99025600-99028600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr7:99025600-99028600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:99025600-99028600	Strong transcription	Brain Substantia Nigra	brain
29	chr7:99025600-99031400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:99025600-99033000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:99025600-99033000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:99025600-99033000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:99025600-99033000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:99025600-99033200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:99025600-99033200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:99025600-99033400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:99025600-99033400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:99025600-99033800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:99025600-99034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:99025600-99034800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:99025600-99034800	Strong transcription	Fetal Muscle Leg	muscle
42	chr7:99025600-99035200	Strong transcription	Fetal Stomach	stomach
43	chr7:99025800-99028200	Strong transcription	NHEK	skin
44	chr7:99025800-99031200	Strong transcription	Thymus	Thymus
45	chr7:99025800-99033000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:99025800-99033200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:99025800-99034000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:99026000-99028200	Strong transcription	Fetal Lung	lung
49	chr7:99026000-99028400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:99026000-99032800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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