Variant report

Variant	rs72668464
Chromosome Location	chr8:99954657-99954658
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	POLR2A	chr8:99954465-99959161	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:99954510-99959523	H1-neurons	neurons:	n/a	n/a
3	MAX	chr8:99954315-99955150	H1-hESC	embryonic stem cell:	n/a	chr8:99954560-99954569
4	CTCF	chr8:99954580-99954730	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr8:99951912-99954770	HepG2	liver:	n/a	chr8:99954267-99954276 chr8:99954560-99954569 chr8:99952868-99952875
6	POLR2A	chr8:99951651-99955069	GM19193	blood:	n/a	n/a
7	SUZ12	chr8:99951190-99955729	NT2-D1	testis:	n/a	n/a
8	BACH1	chr8:99952263-99955172	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr8:99954482-99954865	GM12878	blood:	n/a	chr8:99954651-99954673 chr8:99954650-99954666
10	POLR2A	chr8:99952065-99955088	GM18526	blood:	n/a	n/a
11	TCF7L2	chr8:99953005-99955098	PANC-1	pancreas:	n/a	chr8:99954857-99954873 chr8:99954860-99954869 chr8:99954857-99954873
12	POLR2A	chr8:99951982-99955089	GM18951	blood:	n/a	n/a
13	CTBP2	chr8:99951453-99955342	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr8:99953879-99955076	H1-hESC	embryonic stem cell:	n/a	chr8:99954821-99954828 chr8:99954500-99954511 chr8:99954817-99954829 chr8:99954821-99954828 chr8:99954821-99954828 chr8:99954298-99954307
15	MAX	chr8:99954454-99955013	H1-hESC	embryonic stem cell:	n/a	chr8:99954560-99954569
16	MAX	chr8:99954624-99954984	GM12878	blood:	n/a	n/a
17	MTA3	chr8:99954325-99955142	GM12878	blood:	n/a	n/a
18	E2F6	chr8:99951868-99955274	H1-hESC	embryonic stem cell:	n/a	chr8:99952332-99952341 chr8:99954821-99954828 chr8:99954500-99954511 chr8:99954817-99954829 chr8:99954821-99954828 chr8:99954821-99954828 chr8:99953249-99953258 chr8:99953365-99953377 chr8:99954298-99954307
19	MAX	chr8:99951947-99954676	HepG2	liver:	n/a	chr8:99954267-99954276 chr8:99954560-99954569 chr8:99952868-99952875
20	MAX	chr8:99953909-99955054	H1-hESC	embryonic stem cell:	n/a	chr8:99954267-99954276 chr8:99954560-99954569
21	YY1	chr8:99954485-99954721	H1-hESC	embryonic stem cell:	n/a	chr8:99954651-99954673 chr8:99954650-99954666
22	ELF1	chr8:99951938-99955091	GM12878	blood:	n/a	chr8:99953244-99953256
23	SUZ12	chr8:99950672-99955166	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr8:99953187-99954996	H1-hESC	embryonic stem cell:	n/a	chr8:99953526-99953545 chr8:99953351-99953361 chr8:99953876-99953895 chr8:99954291-99954309 chr8:99954366-99954384
25	SMARCB1	chr8:99953099-99954798	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr8:99954214-99954660	PANC-1	pancreas:	n/a	n/a
27	YY1	chr8:99954426-99954872	GM12891	blood:	n/a	chr8:99954651-99954673 chr8:99954650-99954666
28	YY1	chr8:99954319-99954747	GM12892	blood:	n/a	chr8:99954651-99954673 chr8:99954650-99954666
29	POLR2A	chr8:99951744-99955155	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPAL2-5	chr8:99954606-99954873	NONHSAT127935

Variant related genes	Relation type
OSR2	TF binding region
ENSG00000271930	TF binding region
ENSG00000263842	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10504986	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504987	1.00[ASN][1000 genomes]
rs16897111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897112	1.00[ASN][1000 genomes]
rs16897115	1.00[ASN][1000 genomes]
rs16897117	1.00[ASN][1000 genomes]
rs16897119	1.00[ASN][1000 genomes]
rs16897121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897128	1.00[ASN][1000 genomes]
rs17374005	1.00[ASN][1000 genomes]
rs55708865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55878650	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55892905	1.00[ASN][1000 genomes]
rs55899553	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933347	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939044	1.00[ASN][1000 genomes]
rs55999827	1.00[ASN][1000 genomes]
rs56088337	1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56285208	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	1.00[ASN][1000 genomes]
rs56356780	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67954509	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994994	1.00[ASN][1000 genomes]
rs7010279	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7012298	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012465	1.00[ASN][1000 genomes]
rs72666678	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	1.00[ASN][1000 genomes]
rs72666684	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	1.00[ASN][1000 genomes]
rs72666688	1.00[ASN][1000 genomes]
rs72666689	1.00[ASN][1000 genomes]
rs72666690	1.00[ASN][1000 genomes]
rs72666699	1.00[ASN][1000 genomes]
rs72668403	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668412	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668417	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668419	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668423	1.00[ASN][1000 genomes]
rs72668425	1.00[ASN][1000 genomes]
rs72668426	1.00[ASN][1000 genomes]
rs72668428	1.00[ASN][1000 genomes]
rs72668430	1.00[ASN][1000 genomes]
rs72668442	1.00[ASN][1000 genomes]
rs72668446	1.00[ASN][1000 genomes]
rs72668447	1.00[ASN][1000 genomes]
rs72668449	1.00[ASN][1000 genomes]
rs72668453	1.00[ASN][1000 genomes]
rs72668455	1.00[ASN][1000 genomes]
rs72668456	1.00[ASN][1000 genomes]
rs72668457	1.00[ASN][1000 genomes]
rs72668458	1.00[ASN][1000 genomes]
rs72668460	1.00[ASN][1000 genomes]
rs72668461	1.00[ASN][1000 genomes]
rs72668467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668480	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668495	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670210	1.00[ASN][1000 genomes]
rs7817630	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820829	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99950400-99955600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:99951000-99955800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:99951600-99955000	Flanking Active TSS	Right Ventricle	heart
4	chr8:99951600-99955000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr8:99951600-99955200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
6	chr8:99951600-99961600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:99951800-99954800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:99951800-99954800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr8:99951800-99955000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr8:99951800-99955000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:99951800-99955000	Active TSS	Aorta	Aorta
12	chr8:99951800-99955000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
13	chr8:99952000-99954800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:99952000-99955000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:99952000-99955000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
17	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
19	chr8:99952000-99955000	Flanking Bivalent TSS/Enh	Thymus	Thymus
20	chr8:99952000-99955200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
25	chr8:99952000-99955200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr8:99952200-99954800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:99952200-99954800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:99952200-99955000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr8:99952200-99955000	Active TSS	HSMM	muscle
30	chr8:99952200-99955200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr8:99952200-99955200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr8:99952200-99961400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:99952400-99955000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
34	chr8:99952400-99955000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:99952400-99960800	Active TSS	Ovary	ovary
36	chr8:99952600-99955000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr8:99952800-99955600	Active TSS	Hela-S3	cervix
38	chr8:99953000-99955000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:99953000-99955000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr8:99953400-99954800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:99953400-99955000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:99953400-99955000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:99953400-99955200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
44	chr8:99953400-99959800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:99953600-99955000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
46	chr8:99953600-99955000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr8:99953600-99955000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr8:99953600-99956200	Flanking Active TSS	GM12878-XiMat	blood
49	chr8:99953800-99954800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:99953800-99954800	Flanking Bivalent TSS/Enh	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links