Variant report

Variant	rs6598248
Chromosome Location	chr15:99976567-99976568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99972525..99976931-chr15:99986719..99991606,5	MCF-7	breast:
2	chr15:99974033..99977897-chr15:99978912..99982934,5	K562	blood:
3	chr15:99976374..99976897-chr15:100105314..100105862,2	Hela-S3	cervix:
4	chr15:99975615..99977769-chr15:99978276..99979849,2	MCF-7	breast:
5	chr15:99963793..99965594-chr15:99976352..99978718,2	K562	blood:
6	chr15:99976307..99978594-chr15:100018036..100019822,2	MCF-7	breast:
7	chr15:99975316..99977266-chr15:99981293..99982934,2	K562	blood:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11247094	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638998	0.81[EUR][1000 genomes]
rs12050818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903392	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545246	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1561864	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561866	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561868	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2119939	0.95[ASN][1000 genomes]
rs28393358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862151	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4965234	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4965235	0.87[ASN][1000 genomes]
rs4965489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4965490	0.81[ASN][1000 genomes]
rs4965493	0.84[EUR][1000 genomes]
rs6598247	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598249	0.84[EUR][1000 genomes]
rs7162570	0.80[ASN][1000 genomes]
rs7162817	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7165066	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7167464	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169461	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169660	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170529	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182313	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028527	0.85[ASN][1000 genomes]
rs8032786	0.82[EUR][1000 genomes]
rs894416	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904547	chr15:99940221-99979159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904548	chr15:99940221-99979418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519800	chr15:99950772-99987109	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv904550	chr15:99954278-99978524	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv904551	chr15:99954278-99979418	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv904552	chr15:99954278-99982447	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv904553	chr15:99954278-99983175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv904554	chr15:99956954-99979418	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv904555	chr15:99956954-99981269	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv904556	chr15:99956954-99987109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv904557	chr15:99956954-99991506	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv519319	chr15:99972661-99991506	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv570728	chr15:99973369-99986764	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99970000-99976800	Enhancers	Primary B cells from peripheral blood	blood
2	chr15:99971200-99978000	Enhancers	Spleen	Spleen
3	chr15:99971400-99978800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr15:99971400-99979200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr15:99971600-99978800	Enhancers	Primary T cells from cord blood	blood
6	chr15:99972000-99976600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:99972200-99978600	Enhancers	Fetal Thymus	thymus
8	chr15:99972400-99977400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:99972600-99976600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr15:99972600-99977400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:99972600-99979000	Enhancers	Left Ventricle	heart
12	chr15:99972800-99977800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:99972800-99978800	Enhancers	Lung	lung
14	chr15:99972800-99979000	Enhancers	Adipose Nuclei	Adipose
15	chr15:99973200-99976800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr15:99973200-99977000	Enhancers	Stomach Mucosa	stomach
17	chr15:99973400-99978600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr15:99973800-99977000	Weak transcription	Ovary	ovary
19	chr15:99973800-99978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:99973800-99978400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr15:99974000-99977600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:99974000-99977800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:99974000-99978200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:99974200-99982000	Weak transcription	Gastric	stomach
25	chr15:99974200-99984000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:99974400-99977400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:99974400-99979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:99974400-99982000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:99974600-99977400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr15:99974800-99976600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr15:99974800-99976600	Bivalent Enhancer	Placenta	Placenta
32	chr15:99974800-99977600	Weak transcription	NHLF	lung
33	chr15:99974800-99978800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:99975000-99977000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:99975000-99979200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr15:99975000-99982200	Enhancers	Fetal Heart	heart
37	chr15:99975200-99976600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr15:99975200-99976600	Enhancers	Brain Germinal Matrix	brain
39	chr15:99975200-99980000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:99975400-99976600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:99975400-99976600	Enhancers	NHDF-Ad	bronchial
42	chr15:99975400-99976800	Enhancers	Brain Hippocampus Middle	brain
43	chr15:99975400-99976800	Enhancers	Esophagus	oesophagus
44	chr15:99975400-99978800	Enhancers	Right Atrium	heart
45	chr15:99975400-99979000	Enhancers	Right Ventricle	heart
46	chr15:99975600-99977000	Enhancers	Stomach Smooth Muscle	stomach
47	chr15:99975800-99976600	Enhancers	Fetal Intestine Large	intestine
48	chr15:99975800-99977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:99975800-99977200	Weak transcription	Thymus	Thymus
50	chr15:99975800-99977400	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links