Variant report

Variant	rs73737411
Chromosome Location	chr6:45391748-45391749
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	RAD21	chr6:45391522-45392061	H1-hESC	embryonic stem cell:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45391581-45391591
2	MYC	chr6:45391704-45391867	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:45391712-45391892	GM12878	blood:	n/a	chr6:45391794-45391808
4	CTCF	chr6:45391740-45391890	NHDF-neo	bronchial:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
5	MAX	chr6:45391507-45392700	NB4	blood:	n/a	n/a
6	RAD21	chr6:45388419-45392074	IMR90	lung:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591 chr6:45388466-45388478
7	POLR2A	chr6:45389182-45392710	HL-60	blood:	n/a	n/a
8	CTCF	chr6:45391720-45391870	AG09319	gingival:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
9	CTCF	chr6:45391740-45391890	HPAF	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
10	POLR2A	chr6:45389166-45392571	HL-60	blood:	n/a	n/a
11	CTCF	chr6:45391700-45391850	HUVEC	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
12	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
13	CTCF	chr6:45391660-45391810	RPTEC	kidney:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
14	CTCF	chr6:45391700-45391850	HPF	lung:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
15	POLR2A	chr6:45389301-45392277	MCF-7	breast:	n/a	n/a
16	MAX	chr6:45391633-45392130	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr6:45390193-45392102	H1-hESC	embryonic stem cell:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591
18	CTBP2	chr6:45390579-45392136	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr6:45391390-45392144	H1-hESC	embryonic stem cell:	n/a	chr6:45391570-45391579
20	ZNF143	chr6:45391682-45391849	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr6:45391635-45392059	H1-hESC	embryonic stem cell:	n/a	n/a
22	MXI1	chr6:45389223-45392118	IMR90	lung:	n/a	n/a
23	CTCF	chr6:45391700-45391850	HRE	kidney:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
24	POLR2A	chr6:45389241-45392606	NB4	blood:	n/a	n/a
25	CTCF	chr6:45391720-45391870	HCPEpiC	choroid plexus:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
26	CTCF	chr6:45391680-45391830	HUVEC	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
27	SIN3A	chr6:45390610-45391832	H1-hESC	embryonic stem cell:	n/a	chr6:45391573-45391586 chr6:45391337-45391350
28	CTCF	chr6:45391740-45391890	HCFaa	heart:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
29	REST	chr6:45391742-45392628	HL-60	blood:	n/a	n/a
30	TAF1	chr6:45391719-45391930	SK-N-SH	brain:	n/a	n/a
31	MAZ	chr6:45389048-45392554	IMR90	lung:	n/a	chr6:45391434-45391444 chr6:45389137-45389147
32	CTCF	chr6:45391720-45391870	HBMEC	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
33	E2F6	chr6:45391622-45392089	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:45391180..45393282-chr6:45393319..45396759,3	K562	blood:
2	chr6:45391466..45393363-chr6:45413859..45416202,2	MCF-7	breast:
3	chr6:45369759..45372221-chr6:45390852..45393677,2	K562	blood:
4	chr6:44626505..44628712-chr6:45390567..45392142,2	MCF-7	breast:
5	chr6:45391736..45393950-chr6:45394810..45397600,3	K562	blood:
6	chr6:44700126..44702193-chr6:45390797..45392676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13217503	0.82[AFR][1000 genomes]
rs4330533	0.87[AFR][1000 genomes]
rs55701611	0.87[AFR][1000 genomes]
rs55951053	0.87[AFR][1000 genomes]
rs59029804	0.87[AFR][1000 genomes]
rs60512318	0.88[AFR][1000 genomes]
rs6927456	0.87[AFR][1000 genomes]
rs6930090	0.91[AFR][1000 genomes]
rs6935969	0.88[AFR][1000 genomes]
rs71566532	0.82[AFR][1000 genomes]
rs73735342	0.87[AFR][1000 genomes]
rs73735343	0.87[AFR][1000 genomes]
rs73735361	0.87[AFR][1000 genomes]
rs73735389	0.87[AFR][1000 genomes]
rs73735398	0.91[AFR][1000 genomes]
rs73737414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7771402	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3495915	chr6:45388574-45392472	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3495916	chr6:45388574-45392472	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
2	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:45388200-45391800	Active TSS	Ovary	ovary
4	chr6:45388200-45392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:45388200-45392000	Active TSS	NHDF-Ad	bronchial
6	chr6:45388200-45392400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:45388400-45393400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:45388600-45391800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:45388600-45392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:45388600-45392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:45388600-45392800	Active TSS	HSMM	muscle
12	chr6:45388600-45393000	Active TSS	NHLF	lung
13	chr6:45388800-45391800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:45388800-45391800	Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:45388800-45392000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:45388800-45392400	Active TSS	HSMMtube	muscle
17	chr6:45389000-45391800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:45389000-45392200	Active TSS	Osteobl	bone
19	chr6:45389000-45392400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:45389000-45392400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:45389000-45392600	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:45389200-45391800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:45389200-45391800	Active TSS	NH-A	brain
24	chr6:45389200-45392000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:45389200-45392000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:45389200-45392000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:45389200-45392000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:45389200-45392000	Active TSS	Brain Substantia Nigra	brain
29	chr6:45389200-45392000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr6:45389200-45392000	Active TSS	NHEK	skin
31	chr6:45389200-45392200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr6:45389200-45392400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:45389200-45392400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:45389400-45391800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:45389400-45391800	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:45389400-45392000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:45389400-45392200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:45389400-45392600	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr6:45389400-45392600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:45389400-45392600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr6:45389600-45391800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr6:45389600-45392000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr6:45389600-45392000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:45390000-45391800	Flanking Active TSS	Pancreas	Pancrea
45	chr6:45390000-45391800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr6:45390000-45392000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr6:45390000-45392000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr6:45390600-45391800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr6:45390600-45392000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:45390600-45392000	Flanking Bivalent TSS/Enh	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links