Variant report

Variant	rs73448968
Chromosome Location	chr6:45981700-45981701
allele	A/G
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	SIN3A	chr6:45981685-45981829	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45980539..45983062-chr6:45983993..45986730,2	K562	blood:

Variant related genes	Relation type
RNU6-754P	TF binding region
ENSG00000212468	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16874143	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16874161	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17461934	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6921518	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6930769	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6940735	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7739464	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9472673	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9472678	0.90[AMR][1000 genomes];0.84[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45979200-45984000	Active TSS	Right Atrium	heart
2	chr6:45979400-45982000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:45979400-45982200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:45979400-45982200	Weak transcription	Spleen	Spleen
5	chr6:45979600-45982200	Enhancers	Primary T cells from cord blood	blood
6	chr6:45979600-45982400	Enhancers	Hela-S3	cervix
7	chr6:45979800-45981800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:45979800-45981800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:45979800-45982000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:45979800-45982200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:45980000-45981800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:45980200-45981800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:45980200-45982200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:45980200-45983800	Active TSS	Fetal Kidney	kidney
15	chr6:45980400-45981800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:45980600-45982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:45980800-45982000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:45980800-45982000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr6:45980800-45982200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:45980800-45983800	Active TSS	Small Intestine	intestine
21	chr6:45980800-45984000	Active TSS	Left Ventricle	heart
22	chr6:45981000-45981800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:45981000-45981800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:45981000-45982200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:45981000-45982200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:45981200-45982000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr6:45981200-45982600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:45981200-45984000	Active TSS	Right Ventricle	heart
29	chr6:45981400-45981800	Flanking Active TSS	Psoas Muscle	Psoas
30	chr6:45981400-45982200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:45981400-45982200	Enhancers	Fetal Intestine Large	intestine
32	chr6:45981400-45982600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:45981400-45982800	Active TSS	Colonic Mucosa	Colon
34	chr6:45981600-45981800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr6:45981600-45981800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:45981600-45981800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:45981600-45981800	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr6:45981600-45981800	Flanking Active TSS	Lung	lung
39	chr6:45981600-45982000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:45981600-45982000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr6:45981600-45982000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:45981600-45982000	Flanking Active TSS	Fetal Heart	heart
43	chr6:45981600-45982200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:45981600-45982200	Active TSS	Adipose Nuclei	Adipose
45	chr6:45981600-45982200	Genic enhancers	Fetal Intestine Small	intestine
46	chr6:45981600-45982200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr6:45981600-45982400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:45981600-45982400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:45981600-45982400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr6:45981600-45982600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links