Variant report

Variant	rs783149
Chromosome Location	chr6:161088918-161088919
allele	A/C
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	RAD21	chr6:161088895-161089337	H1-hESC	embryonic stem cell:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
2	RAD21	chr6:161088808-161089413	H1-hESC	embryonic stem cell:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
3	SMC3	chr6:161088913-161089354	Hela-S3	cervix:	n/a	chr6:161089117-161089131
4	RAD21	chr6:161088781-161089421	HCT-116	colon:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
5	SMC3	chr6:161088879-161089307	HepG2	liver:	n/a	chr6:161089117-161089131
6	RAD21	chr6:161088894-161089370	MCF-7	breast:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
7	CTCF	chr6:161088899-161089292	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
8	RAD21	chr6:161088884-161089435	MCF-7	breast:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
9	MAFK	chr6:161088787-161089106	HepG2	liver:	n/a	n/a
10	CTCF	chr6:161088800-161088950	GM12870	blood:	n/a	n/a
11	RAD21	chr6:161088907-161089295	Hela-S3	cervix:	n/a	chr6:161089113-161089132
12	RAD21	chr6:161088768-161089409	HCT-116	colon:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
13	CTCF	chr6:161088875-161089391	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
14	ZNF263	chr6:161088736-161089303	HEK293-T-REx	kidney:	n/a	n/a
15	RAD21	chr6:161088905-161089215	GM12878	blood:	n/a	chr6:161089113-161089132
16	CTCF	chr6:161088809-161089479	A549	lung:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
17	CTCF	chr6:161088900-161089170	HEK293	kidney:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
18	CTCF	chr6:161088896-161089321	H1-hESC	embryonic stem cell:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
19	MYBL2	chr6:161088770-161089487	HepG2	liver:	n/a	n/a
20	RAD21	chr6:161088851-161089288	HepG2	liver:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
21	RUNX3	chr6:161088850-161089287	GM12878	blood:	n/a	n/a
22	RAD21	chr6:161088860-161089235	H1-hESC	embryonic stem cell:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
23	RAD21	chr6:161088908-161089300	HepG2	liver:	n/a	chr6:161089113-161089132
24	FOXA2	chr6:161088875-161089153	HepG2	liver:	n/a	n/a
25	RAD21	chr6:161088912-161089290	GM12878	blood:	n/a	chr6:161089113-161089132
26	RAD21	chr6:161088798-161089317	HepG2	liver:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
27	SMC3	chr6:161088916-161089303	K562	blood:	n/a	chr6:161089117-161089131
28	RAD21	chr6:161088754-161089394	SK-N-SH	brain:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
29	CTCF	chr6:161088910-161089321	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
30	CTCF	chr6:161088864-161089296	HepG2	liver:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
31	RAD21	chr6:161088846-161089382	ECC-1	luminal epithelium:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
32	RAD21	chr6:161088876-161089296	A549	lung:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
33	RUNX3	chr6:161088894-161089235	GM12878	blood:	n/a	n/a
34	RAD21	chr6:161088805-161089388	A549	lung:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
35	CTCF	chr6:161088816-161089346	HCT-116	colon:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
36	CTCF	chr6:161088876-161089268	K562	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
37	RAD21	chr6:161088845-161089302	ECC-1	luminal epithelium:	n/a	chr6:161089113-161089132 chr6:161088903-161088916
38	CTCF	chr6:161088859-161089398	MCF-7	breast:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
39	CTCF	chr6:161088916-161089500	GM12878	blood:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
40	CTCF	chr6:161088889-161089450	SK-N-SH	brain:	n/a	chr6:161089110-161089131 chr6:161089115-161089133
41	KAP1	chr6:161088855-161089288	HEK293	kidney:	n/a	n/a
42	RAD21	chr6:161088905-161089272	K562	blood:	n/a	chr6:161089113-161089132

No.	Distal block	Cell Line	Cell type
1	chr6:160954972..160955719-chr6:161088699..161089595,2	MCF-7	breast:
2	chr6:160876814..160877519-chr6:161088556..161089198,2	MCF-7	breast:
3	chr6:160940535..160941592-chr6:161088101..161089900,7	K562	blood:
4	chr6:160876729..160877411-chr6:161088842..161089583,2	K562	blood:
5	chr6:160939583..160942817-chr6:161087432..161090286,3	K562	blood:
6	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:
7	chr6:160940670..160941542-chr6:161088487..161089076,2	MCF-7	breast:
8	chr6:160941041..160942817-chr6:161087432..161089515,2	K562	blood:

Variant related genes	Relation type
LPA	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1084651	0.90[CEU][hapmap]
rs1652507	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800769	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35499210	0.83[ASN][1000 genomes]
rs9355296	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1030171	chr6:160648469-161091864	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv604997	chr6:160957114-161088918	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv605005	chr6:161069941-161152449	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3372556	chr6:161087762-161092360	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3385632	chr6:161088262-161091460	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3433335	chr6:161088362-161091560	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161084200-161089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:161087400-161089600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161087600-161100200	Weak transcription	Right Atrium	heart
4	chr6:161088600-161089400	Enhancers	Liver	Liver
5	chr6:161088800-161089000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr6:161088800-161089000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr6:161088800-161089000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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