Variant report

Variant	rs10106235
Chromosome Location	chr8:61146139-61146140
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	chr8:61146100-61146250	AoAF	blood vessel:	n/a	n/a
2	ZNF143	chr8:61145801-61146149	GM12878	blood:	n/a	n/a
3	CTCF	chr8:61145746-61146327	K562	blood:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
4	ZNF143	chr8:61145856-61146302	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:61145822-61146366	T-47D	breast:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
6	CTCF	chr8:61145687-61146333	HCT-116	colon:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
7	CTCF	chr8:61146020-61146170	RPTEC	kidney:	n/a	n/a
8	CTCF	chr8:61145784-61146349	HepG2	liver:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
9	RAD21	chr8:61145657-61146287	HCT-116	colon:	n/a	chr8:61145965-61145984
10	CTCF	chr8:61146139-61146260	Pancreas_OC	pancreas:	n/a	n/a
11	RAD21	chr8:61145617-61146457	SK-N-SH	brain:	n/a	chr8:61145965-61145984
12	CTCF	chr8:61146118-61146309	HepG2	liver:	n/a	n/a
13	CTCF	chr8:61146060-61146210	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr8:61145554-61146584	SK-N-SH	brain:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
15	CTCF	chr8:61145732-61146502	MCF-7	breast:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
16	SMC3	chr8:61145836-61146188	Hela-S3	cervix:	n/a	chr8:61145966-61145980
17	CTCF	chr8:61145902-61146319	H1-hESC	embryonic stem cell:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
18	CTCF	chr8:61145750-61146252	GM12878	blood:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
19	CTCF	chr8:61145721-61146313	MCF-7	breast:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
20	CTCF	chr8:61146000-61146150	WI-38	lung:	n/a	n/a
21	RAD21	chr8:61145934-61146245	A549	lung:	n/a	chr8:61145965-61145984
22	RAD21	chr8:61145739-61146269	A549	lung:	n/a	chr8:61145965-61145984
23	CTCF	chr8:61145488-61146602	A549	lung:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
24	CTCF	chr8:61146100-61146250	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr8:61146120-61146270	HepG2	liver:	n/a	n/a
26	CTCF	chr8:61145830-61146317	H1-hESC	embryonic stem cell:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
27	CTCF	chr8:61146120-61146270	AG09309	skin:	n/a	n/a
28	CTCF	chr8:61145792-61146292	K562	blood:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
29	CTCF	chr8:61146100-61146250	HMEC	breast:	n/a	n/a
30	CTCF	chr8:61145780-61146352	IMR90	lung:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
31	SMC3	chr8:61145830-61146191	GM12878	blood:	n/a	chr8:61145966-61145980
32	RAD21	chr8:61145809-61146246	ECC-1	luminal epithelium:	n/a	chr8:61145965-61145984
33	ARID3A	chr8:61145814-61146304	HepG2	liver:	n/a	chr8:61146234-61146250
34	RAD21	chr8:61145767-61146327	H1-hESC	embryonic stem cell:	n/a	chr8:61145965-61145984
35	CTCF	chr8:61146100-61146250	GM12865	blood:	n/a	n/a
36	SMC3	chr8:61145863-61146236	K562	blood:	n/a	chr8:61145966-61145980
37	CTCF	chr8:61146020-61146170	HCT-116	colon:	n/a	n/a
38	CTCF	chr8:61145814-61146304	HUVEC	blood vessel:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
39	CTCF	chr8:61146100-61146250	HepG2	liver:	n/a	n/a
40	CTCF	chr8:61146060-61146210	GM12869	blood:	n/a	n/a
41	RAD21	chr8:61145828-61146235	H1-hESC	embryonic stem cell:	n/a	chr8:61145965-61145984
42	RAD21	chr8:61145814-61146169	Hela-S3	cervix:	n/a	chr8:61145965-61145984
43	CTCF	chr8:61145703-61146345	HCT-116	colon:	n/a	chr8:61145966-61145987 chr8:61145967-61145980 chr8:61145967-61145976 chr8:61145965-61145981 chr8:61145964-61145982
44	ZNF143	chr8:61145834-61146290	K562	blood:	n/a	n/a
45	CTCF	chr8:61146060-61146210	NHLF	lung:	n/a	n/a
46	CTCF	chr8:61146100-61146250	AG04450	lung:	n/a	n/a
47	ARID3A	chr8:61145639-61146155	K562	blood:	n/a	n/a
48	RAD21	chr8:61145861-61146242	A549	lung:	n/a	chr8:61145965-61145984
49	SMC3	chr8:61145675-61146343	SK-N-SH	brain:	n/a	chr8:61145966-61145980
50	RAD21	chr8:61145775-61146220	ECC-1	luminal epithelium:	n/a	chr8:61145965-61145984

No.	Distal block	Cell Line	Cell type
1	chr8:61145723..61146426-chr8:61172527..61173477,3	MCF-7	breast:
2	chr8:61145523..61146919-chr8:61308664..61310037,8	MCF-7	breast:
3	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:
4	chr8:61145703..61146486-chr8:61308857..61310218,7	K562	blood:
5	chr8:61145743..61146683-chr8:61309373..61310016,2	MCF-7	breast:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10092625	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10093017	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100434	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100519	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100615	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10103858	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103871	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106102	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108007	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957122	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990876	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990909	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991009	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991354	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994656	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11995055	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11998400	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11998464	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11998465	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542804	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543049	0.99[EUR][1000 genomes]
rs12543642	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548662	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549574	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550354	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677216	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12708001	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12708002	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13251863	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13253763	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13253838	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13259697	0.82[EUR][1000 genomes]
rs13259922	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13262241	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13265385	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13266842	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268419	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268836	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28686938	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35437140	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55733749	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56309258	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59743106	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61219237	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67956711	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997366	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007072	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7463084	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463207	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7826359	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking 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 target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61105800-61149400	Weak transcription	Gastric	stomach
2	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
3	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:61129000-61149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:61138400-61147200	Weak transcription	Right Atrium	heart
6	chr8:61138400-61150400	Weak transcription	A549	lung
7	chr8:61139400-61149600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:61142400-61151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:61142600-61151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:61143400-61149400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61144200-61151600	Enhancers	Fetal Intestine Large	intestine
12	chr8:61145200-61149600	Genic enhancers	K562	blood
13	chr8:61145600-61148600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61145800-61149600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:61146000-61146200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:61146000-61146200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:61146000-61146200	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:61146000-61146200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:61146000-61146200	Enhancers	Brain Anterior Caudate	brain
20	chr8:61146000-61146200	Enhancers	Right Ventricle	heart
21	chr8:61146000-61146400	Enhancers	Fetal Heart	heart
22	chr8:61146000-61146800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:61146000-61146800	Enhancers	HUVEC	blood vessel
24	chr8:61146000-61147800	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links