Variant report

Variant	rs73145619
Chromosome Location	chr7:98625556-98625557
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98625288-98626655	K562	blood:	n/a	n/a
2	POLR2A	chr7:98625452-98625596	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:98625371-98625804	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:98625261-98627180	K562	blood:	n/a	n/a
5	POLR2A	chr7:98624837-98629944	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98610114..98612044-chr7:98623356..98625969,2	K562	blood:
2	chr7:98625520..98627401-chr7:98629881..98632572,3	K562	blood:
3	chr7:98625520..98627401-chr7:98629881..98632572,2	K562	blood:
4	chr7:98625274..98628239-chr7:98630668..98632654,2	MCF-7	breast:
5	chr7:98624718..98626899-chr7:98970267..98973066,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242687	TF binding region
ENSG00000242687	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10487144	0.87[EUR][1000 genomes]
rs11979767	0.87[EUR][1000 genomes]
rs73145604	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73145605	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145606	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145609	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145611	1.00[EUR][1000 genomes]
rs73145614	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145615	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145616	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145621	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145623	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145626	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145629	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145635	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73147603	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73147604	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73147839	0.85[AMR][1000 genomes]
rs73147848	0.85[AMR][1000 genomes]
rs73147851	0.85[AMR][1000 genomes]
rs73147856	0.85[AMR][1000 genomes]
rs73147860	0.81[EUR][1000 genomes]
rs73147866	0.81[EUR][1000 genomes]
rs73155610	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155612	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155615	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155617	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155619	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155624	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155626	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155627	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155628	0.87[EUR][1000 genomes]
rs73155630	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155631	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155633	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155637	0.87[EUR][1000 genomes]
rs73155638	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155639	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155641	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155644	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155645	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155648	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155650	0.87[EUR][1000 genomes]
rs73155654	0.87[EUR][1000 genomes]
rs73155657	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155658	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155659	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155663	0.87[EUR][1000 genomes]
rs73161938	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161940	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161941	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161943	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161944	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73161947	0.93[EUR][1000 genomes]
rs73161948	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73161949	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73161950	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7791007	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1847495	chr7:98556216-98648069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98604200-98627000	Weak transcription	Fetal Heart	heart
3	chr7:98604800-98627000	Weak transcription	Fetal Brain Male	brain
4	chr7:98607200-98629200	Weak transcription	Psoas Muscle	Psoas
5	chr7:98612000-98627800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98612400-98627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:98612400-98632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98612600-98627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:98612800-98626400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:98613400-98626000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:98613400-98629400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:98613600-98625600	Weak transcription	Right Ventricle	heart
13	chr7:98613600-98626600	Weak transcription	Fetal Kidney	kidney
14	chr7:98614200-98625800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:98614600-98625600	Weak transcription	GM12878-XiMat	blood
16	chr7:98618200-98625600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:98618200-98625600	Weak transcription	Ovary	ovary
18	chr7:98618200-98625600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:98618200-98625800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:98618200-98626000	Weak transcription	HMEC	breast
21	chr7:98618200-98626400	Weak transcription	Hela-S3	cervix
22	chr7:98618200-98626600	Weak transcription	K562	blood
23	chr7:98618200-98626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:98618400-98625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:98618400-98625600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:98618400-98625600	Weak transcription	HSMMtube	muscle
27	chr7:98618400-98625800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:98618400-98626200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:98618600-98626000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:98618800-98628600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:98619800-98626600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:98620000-98626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:98620200-98625600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:98620200-98625600	Weak transcription	Aorta	Aorta
35	chr7:98620200-98625600	Weak transcription	Brain Anterior Caudate	brain
36	chr7:98620200-98625600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:98620200-98625600	Weak transcription	Colonic Mucosa	Colon
38	chr7:98620200-98625600	Weak transcription	Gastric	stomach
39	chr7:98620200-98625600	Weak transcription	Pancreas	Pancrea
40	chr7:98620200-98625800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:98622400-98625600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:98622600-98625600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:98622600-98625600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:98622600-98626800	Weak transcription	Stomach Mucosa	stomach
45	chr7:98622800-98626200	Weak transcription	NHDF-Ad	bronchial
46	chr7:98623400-98627000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:98623400-98640200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:98624600-98637200	Strong transcription	Fetal Intestine Large	intestine
49	chr7:98624800-98626800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:98624800-98627000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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