Variant report

Variant	rs143677162
Chromosome Location	chr11:71802283-71802284
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	POLR2A	chr11:71801822-71802825	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:71801832-71802699	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:71801886-71804352	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:71802093-71802788	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr11:71801969-71802762	GM12878	blood:	n/a	chr11:71802467-71802486
6	SMC3	chr11:71802124-71802739	Hela-S3	cervix:	n/a	chr11:71802471-71802485
7	CTCF	chr11:71802278-71802681	A549	lung:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
8	BRCA1	chr11:71802154-71802674	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr11:71802054-71802664	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:71802243-71802731	GM12878	blood:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
11	RAD21	chr11:71801770-71802948	SK-N-SH	brain:	n/a	chr11:71802467-71802486
12	TEAD4	chr11:71802274-71802839	K562	blood:	n/a	n/a
13	CTCF	chr11:71802170-71802845	MCF-7	breast:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
14	POLR2A	chr11:71802064-71802802	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:71801726-71802838	HUVEC	blood vessel:	n/a	n/a
16	SMC3	chr11:71801822-71803127	SK-N-SH	brain:	n/a	chr11:71802471-71802485
17	CTCF	chr11:71802237-71802767	K562	blood:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
18	STAT1	chr11:71802255-71802605	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:71801839-71802963	GM12878	blood:	n/a	n/a
20	RAD21	chr11:71802280-71802684	HepG2	liver:	n/a	chr11:71802467-71802486
21	POLR2A	chr11:71801698-71805037	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:71801670-71803003	HepG2	liver:	n/a	n/a
23	RAD21	chr11:71802011-71802825	MCF-7	breast:	n/a	chr11:71802467-71802486
24	RAD21	chr11:71802172-71802710	H1-hESC	embryonic stem cell:	n/a	chr11:71802467-71802486
25	RAD21	chr11:71802123-71802752	ECC-1	luminal epithelium:	n/a	chr11:71802467-71802486
26	POLR2A	chr11:71801919-71803436	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:71802063-71802608	K562	blood:	n/a	n/a
28	RAD21	chr11:71802044-71802794	HCT-116	colon:	n/a	chr11:71802467-71802486
29	EP300	chr11:71802257-71802688	K562	blood:	n/a	chr11:71802327-71802334
30	RAD21	chr11:71802086-71802836	A549	lung:	n/a	chr11:71802467-71802486
31	RAD21	chr11:71802092-71802860	IMR90	lung:	n/a	chr11:71802467-71802486
32	POLR2A	chr11:71801915-71802699	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr11:71802051-71802885	HCT-116	colon:	n/a	chr11:71802467-71802486
34	POLR2A	chr11:71802227-71802864	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr11:71802274-71802714	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:71802127-71802760	K562	blood:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
37	FOXM1	chr11:71802180-71802744	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:71802082-71802765	K562	blood:	n/a	n/a
39	ZKSCAN1	chr11:71802186-71802623	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:71801781-71802912	SK-N-SH	brain:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
41	CTCF	chr11:71801735-71802913	A549	lung:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
42	POLR2A	chr11:71802183-71802751	HL-60	blood:	n/a	n/a
43	CTCF	chr11:71802161-71802815	K562	blood:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
44	MAZ	chr11:71802177-71802834	IMR90	lung:	n/a	n/a
45	CTCF	chr11:71802141-71802872	HCT-116	colon:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
46	SMC3	chr11:71802223-71802732	HepG2	liver:	n/a	chr11:71802471-71802485
47	POLR2A	chr11:71802172-71802731	SK-N-MC	brain:	n/a	n/a
48	RAD21	chr11:71802243-71802664	HepG2	liver:	n/a	chr11:71802467-71802486
49	CTCF	chr11:71802057-71802771	HepG2	liver:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484
50	CTCF	chr11:71802237-71802797	T-47D	breast:	n/a	chr11:71802469-71802487 chr11:71802464-71802485 chr11:71802471-71802484

No.	Distal block	Cell Line	Cell type
1	chr11:71802059..71803123-chr11:71892536..71893396,4	MCF-7	breast:
2	chr11:71735465..71736792-chr11:71801901..71803139,15	MCF-7	breast:
3	chr11:71688524..71689347-chr11:71801997..71802945,2	K562	blood:
4	chr11:71688474..71689052-chr11:71802140..71802824,2	MCF-7	breast:
5	chr11:71802072..71802706-chr11:72141920..72142483,2	MCF-7	breast:
6	chr11:71802021..71802787-chr17:79075240..79076177,2	MCF-7	breast:
7	chr11:71733947..71737964-chr11:71799047..71803336,5	MCF-7	breast:
8	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
9	chr11:71801951..71802570-chr11:71894329..71895088,2	MCF-7	breast:
10	chr11:71740922..71741736-chr11:71801946..71802813,2	MCF-7	breast:
11	chr11:71796781..71799442-chr11:71800354..71802541,3	MCF-7	breast:
12	chr11:71737643..71738177-chr11:71802084..71802697,2	MCF-7	breast:
13	chr11:71735780..71737180-chr11:71801992..71803040,11	MCF-7	breast:
14	chr11:71750983..71755251-chr11:71800972..71803523,4	MCF-7	breast:
15	chr11:71735901..71736888-chr11:71802036..71802559,3	K562	blood:

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000206783	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	esv3354083	chr11:71802283-71802674	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792400-71802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:71792400-71805200	Weak transcription	HSMMtube	muscle
3	chr11:71792400-71805800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:71792600-71802400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:71792600-71804200	Weak transcription	Aorta	Aorta
6	chr11:71792600-71804800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:71792600-71805400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:71792600-71805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:71792600-71805400	Weak transcription	Colonic Mucosa	Colon
10	chr11:71792600-71805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:71792600-71805600	Weak transcription	Esophagus	oesophagus
12	chr11:71792600-71805600	Weak transcription	Pancreas	Pancrea
13	chr11:71792600-71808800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71792600-71809000	Weak transcription	Psoas Muscle	Psoas
15	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
16	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:71792800-71804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:71792800-71808200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:71792800-71808200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:71793000-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:71793200-71808400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:71793400-71802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:71793400-71803000	Weak transcription	GM12878-XiMat	blood
24	chr11:71793400-71805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:71793800-71802400	Weak transcription	HUVEC	blood vessel
26	chr11:71796400-71807600	Weak transcription	HMEC	breast
27	chr11:71797000-71805600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:71797200-71804000	Weak transcription	Brain Germinal Matrix	brain
29	chr11:71797400-71808000	Weak transcription	Fetal Kidney	kidney
30	chr11:71798000-71803800	Weak transcription	Brain Angular Gyrus	brain
31	chr11:71798000-71812200	Weak transcription	Fetal Brain Male	brain
32	chr11:71798200-71805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:71798600-71802400	Strong transcription	Dnd41	blood
34	chr11:71799000-71803000	Strong transcription	Fetal Stomach	stomach
35	chr11:71799000-71803400	Genic enhancers	K562	blood
36	chr11:71799200-71802800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:71799600-71804400	Weak transcription	Fetal Lung	lung
38	chr11:71799800-71804400	Weak transcription	Right Ventricle	heart
39	chr11:71800000-71802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:71800000-71803200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:71800000-71805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:71800200-71802800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:71800200-71804200	Weak transcription	Gastric	stomach
44	chr11:71800200-71805400	Weak transcription	NH-A	brain
45	chr11:71800200-71805600	Weak transcription	Ovary	ovary
46	chr11:71800400-71812000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:71800600-71802400	Strong transcription	NHLF	lung
48	chr11:71800800-71802400	Strong transcription	HSMM	muscle
49	chr11:71801000-71802400	Strong transcription	A549	lung
50	chr11:71801000-71802800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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