Variant report

Variant	rs6987704
Chromosome Location	chr8:42547623-42547624
allele	C/T
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	CTCF	chr8:42547586-42548028	K562	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
2	CTCF	chr8:42547480-42548045	H1-hESC	embryonic stem cell:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
3	CTCF	chr8:42547551-42547939	H1-hESC	embryonic stem cell:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
4	CTCF	chr8:42547455-42547929	GM10266	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
5	RAD21	chr8:42547354-42548294	HCT-116	colon:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
6	RAD21	chr8:42547477-42548055	HepG2	liver:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
7	RAD21	chr8:42547600-42548133	IMR90	lung:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
8	RAD21	chr8:42547569-42548101	MCF-7	breast:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
9	SMC3	chr8:42547565-42548386	GM12878	blood:	n/a	chr8:42547807-42547814 chr8:42547807-42547821
10	SMC3	chr8:42547600-42548072	K562	blood:	n/a	chr8:42547807-42547814 chr8:42547807-42547821
11	CTCF	chr8:42547619-42547987	A549	lung:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
12	MAZ	chr8:42547429-42548363	IMR90	lung:	n/a	n/a
13	BCLAF1	chr8:42547559-42548051	GM12878	blood:	n/a	chr8:42547897-42547910
14	CTCF	chr8:42547619-42547952	GM12891	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
15	CTCF	chr8:42547577-42548078	MCF-7	breast:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
16	CTCF	chr8:42547415-42548289	HCT-116	colon:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
17	RAD21	chr8:42547587-42548074	HepG2	liver:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
18	RAD21	chr8:42547498-42548145	H1-hESC	embryonic stem cell:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
19	CTCF	chr8:42547498-42547961	GM19240	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
20	CTCF	chr8:42547594-42548067	IMR90	lung:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
21	CTCF	chr8:42547544-42548093	A549	lung:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
22	RAD21	chr8:42547471-42548149	HepG2	liver:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
23	RAD21	chr8:42547580-42548096	SK-N-SH_RA	brain:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
24	RAD21	chr8:42547319-42548727	SK-N-SH	brain:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
25	MAZ	chr8:42547620-42547982	GM12878	blood:	n/a	n/a
26	RAD21	chr8:42547458-42548220	H1-hESC	embryonic stem cell:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
27	RAD21	chr8:42547518-42548119	MCF-7	breast:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
28	RAD21	chr8:42547621-42547988	K562	blood:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
29	ATF2	chr8:42547623-42548042	GM12878	blood:	n/a	n/a
30	CTCF	chr8:42547594-42548034	GM12878	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
31	SMC3	chr8:42547621-42548107	HepG2	liver:	n/a	chr8:42547807-42547814 chr8:42547807-42547821
32	RAD21	chr8:42547623-42548096	Hela-S3	cervix:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
33	CTCF	chr8:42547586-42548124	K562	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
34	CHD1	chr8:42547427-42548396	IMR90	lung:	n/a	n/a
35	CTCF	chr8:42547602-42547950	MCF-7	breast:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
36	CTCF	chr8:42547566-42548119	HCT-116	colon:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
37	RAD21	chr8:42547373-42548284	HCT-116	colon:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
38	CTCF	chr8:42547377-42548775	SK-N-SH	brain:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42548549-42548562 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
39	CTCF	chr8:42547560-42548033	T-47D	breast:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
40	RAD21	chr8:42547514-42548144	A549	lung:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
41	CTCF	chr8:42547378-42548497	A549	lung:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
42	SMC3	chr8:42547305-42548731	SK-N-SH	brain:	n/a	chr8:42548548-42548562 chr8:42547807-42547814 chr8:42547807-42547821
43	RAD21	chr8:42547451-42548190	H1-hESC	embryonic stem cell:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
44	RAD21	chr8:42547582-42548250	GM12878	blood:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
45	FOXM1	chr8:42547588-42548005	GM12878	blood:	n/a	n/a
46	CTCF	chr8:42547593-42547998	K562	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
47	CTCF	chr8:42547586-42547989	HepG2	liver:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
48	RAD21	chr8:42547618-42548057	GM12878	blood:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42547811-42547821 chr8:42547810-42547819
49	YY1	chr8:42547622-42547941	GM12891	blood:	n/a	n/a
50	CTCF	chr8:42547579-42548041	K562	blood:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822

No.	Distal block	Cell Line	Cell type
1	chr8:42547317..42548049-chr8:42618681..42619610,2	K562	blood:
2	chr8:42547195..42550116-chr8:42660331..42662145,2	K562	blood:
3	chr8:42546623..42549330-chr8:42752023..42754724,2	K562	blood:
4	chr8:42547337..42548239-chr8:42928299..42929357,3	K562	blood:
5	chr8:42547409..42548369-chr8:42659553..42661326,13	MCF-7	breast:
6	chr8:42547297..42548311-chr8:42660024..42661543,15	K562	blood:

Variant related genes	Relation type
CHRNB3	TF binding region
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000200731	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10958725	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10958727	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254578	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273442	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277254	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277524	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280301	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13280604	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451239	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451240	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530847	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16891561	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1901281	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1955185	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955186	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979140	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35599391	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057318	0.98[ASN][1000 genomes]
rs4236926	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4295650	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392883	0.92[ASN][1000 genomes]
rs4736835	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4736836	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4736838	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4950	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55828312	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57645595	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58379124	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6474411	0.83[ASN][1000 genomes]
rs6474412	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474413	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474414	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6474415	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6985052	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990603	0.98[ASN][1000 genomes]
rs6997909	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004381	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017612	0.87[EUR][1000 genomes]
rs7459838	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837296	0.98[ASN][1000 genomes]
rs7842601	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643853	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643891	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693825	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9693858	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9792257	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792277	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42544000-42561200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42545200-42547800	Weak transcription	HSMM	muscle
3	chr8:42546800-42547800	Weak transcription	HepG2	liver
4	chr8:42547200-42547800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:42547200-42548000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:42547400-42548000	Enhancers	Adipose Nuclei	Adipose
7	chr8:42547400-42548000	Enhancers	Dnd41	blood
8	chr8:42547400-42548200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:42547400-42548400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:42547400-42548400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:42547400-42548600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:42547600-42548000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:42547600-42548000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr8:42547600-42548000	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:42547600-42548000	Active TSS	Hela-S3	cervix
16	chr8:42547600-42548200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:42547600-42548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:42547600-42548200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:42547600-42548200	Active TSS	Stomach Smooth Muscle	stomach
20	chr8:42547600-42548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:42547600-42548400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:42547600-42548400	Enhancers	Stomach Mucosa	stomach
23	chr8:42547600-42548600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:42547600-42548600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:42547600-42548600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:42547600-42548600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:42547600-42548600	Enhancers	A549	lung
28	chr8:42547600-42548800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:42547600-42549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links