Variant report

Variant	rs532987965
Chromosome Location	chr6:163834709-163834710
allele	C/G
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	CHD2	chr6:163834276-163835298	K562	blood:	n/a	n/a
2	POLR2A	chr6:163833865-163837731	GM18505	blood:	n/a	n/a
3	MAX	chr6:163834315-163835306	GM12878	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
4	CHD2	chr6:163834334-163835841	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:163834232-163835874	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:163834058-163835953	HL-60	blood:	n/a	n/a
7	FOXM1	chr6:163834187-163835359	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:163833895-163835294	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr6:163834123-163836009	K562	blood:	n/a	n/a
10	ZKSCAN1	chr6:163834077-163834850	Hela-S3	cervix:	n/a	n/a
11	MAX	chr6:163834426-163835291	K562	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
12	MAX	chr6:163834014-163835325	HepG2	liver:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
13	MYC	chr6:163834091-163835306	K562	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
14	POLR2A	chr6:163834316-163835267	HepG2	liver:	n/a	n/a
15	ZMIZ1	chr6:163834008-163835255	K562	blood:	n/a	n/a
16	MYBL2	chr6:163834065-163835309	HepG2	liver:	n/a	n/a
17	GATA3	chr6:163834262-163835197	A549	lung:	n/a	n/a
18	USF2	chr6:163834414-163835316	GM12878	blood:	n/a	chr6:163835111-163835122
19	GTF2F1	chr6:163834588-163834772	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr6:163834448-163834950	SK-N-SH	brain:	n/a	chr6:163834612-163834630 chr6:163834611-163834631 chr6:163834611-163834631 chr6:163834614-163834627 chr6:163834611-163834631
21	ZNF263	chr6:163834101-163835247	HEK293-T-REx	kidney:	n/a	n/a
22	CTCF	chr6:163834560-163834710	HepG2	liver:	n/a	n/a
23	IRF1	chr6:163834364-163835268	K562	blood:	n/a	chr6:163835050-163835064
24	HEY1	chr6:163834128-163835578	HepG2	liver:	n/a	chr6:163835234-163835249 chr6:163834851-163834866
25	KAP1	chr6:163834566-163834811	U2OS	brain:	n/a	n/a
26	E2F6	chr6:163834287-163834927	A549	lung:	n/a	chr6:163834818-163834830
27	TAF1	chr6:163834612-163835372	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr6:163834145-163835458	GM12892	blood:	n/a	n/a
29	TAL1	chr6:163834027-163835289	K562	blood:	n/a	n/a
30	MAFK	chr6:163834236-163834907	HepG2	liver:	n/a	chr6:163834302-163834313 chr6:163834300-163834314
31	PML	chr6:163834066-163835277	K562	blood:	n/a	n/a
32	TBL1XR1	chr6:163834293-163835272	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:163834444-163836378	Raji	blood:	n/a	n/a
34	E2F1	chr6:163834440-163836040	Hela-S3	cervix:	n/a	chr6:163835761-163835771 chr6:163835077-163835086 chr6:163835287-163835296 chr6:163834818-163834830
35	POLR2A	chr6:163834197-163836001	HUVEC	blood vessel:	n/a	n/a
36	RAD21	chr6:163834632-163834799	HepG2	liver:	n/a	n/a
37	RELA	chr6:163833909-163836016	GM12891	blood:	n/a	chr6:163834879-163834888 chr6:163834879-163834888
38	SIN3A	chr6:163834086-163835309	H1-hESC	embryonic stem cell:	n/a	chr6:163834441-163834454 chr6:163834616-163834630 chr6:163834834-163834845 chr6:163835112-163835121
39	RCOR1	chr6:163833833-163835293	K562	blood:	n/a	n/a
40	POLR2A	chr6:163833436-163836080	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr6:163834529-163835277	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr6:163834179-163835276	GM12878	blood:	n/a	n/a
43	BHLHE40	chr6:163833621-163835329	GM12878	blood:	n/a	n/a
44	E2F6	chr6:163834187-163836475	K562	blood:	n/a	chr6:163835761-163835771 chr6:163835077-163835086 chr6:163835287-163835296 chr6:163834818-163834830 chr6:163836442-163836454
45	TBP	chr6:163833975-163835953	K562	blood:	n/a	n/a
46	PAX5	chr6:163834358-163834758	GM12878	blood:	n/a	n/a
47	POU2F2	chr6:163834438-163835344	GM12878	blood:	n/a	chr6:163835219-163835231 chr6:163834823-163834835
48	YY1	chr6:163834227-163835507	GM12892	blood:	n/a	chr6:163835273-163835284 chr6:163834861-163834875 chr6:163835264-163835275 chr6:163835291-163835302 chr6:163835276-163835290
49	CREB1	chr6:163834303-163835351	A549	lung:	n/a	n/a
50	POLR2A	chr6:163833427-163835947	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:163834433..163837014-chr6:163986395..163988827,2	K562	blood:
2	chr17:8075909..8076789-chr6:163834187..163834895,2	Hela-S3	cervix:
3	chr6:163833988..163836212-chr6:163848529..163850044,2	MCF-7	breast:
4	chr5:34007852..34008601-chr6:163834316..163835107,2	Hela-S3	cervix:
5	chr6:163707215..163709135-chr6:163832836..163834940,2	MCF-7	breast:
6	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction
ENSG00000242110	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1839403	chr6:163822296-163835490	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793461	chr6:163822296-163836634	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1794611	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1796475	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1797016	chr6:163822296-163836689	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1801202	chr6:163822296-163836689	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1801861	chr6:163822296-163836689	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv605193	chr6:163824864-163835490	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv605194	chr6:163824864-163836293	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv605195	chr6:163824864-163836634	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3388703	chr6:163833387-163836135	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3335151	chr6:163833462-163838560	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv3439007	chr6:163833987-163837835	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3438634	chr6:163834437-163837310	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv11489	chr6:163834591-163836760	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:163832800-163835200	Active TSS	Brain Hippocampus Middle	brain
3	chr6:163833000-163837200	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:163833200-163835200	Active TSS	A549	lung
6	chr6:163833200-163836200	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:163833200-163837200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
9	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
10	chr6:163833400-163834800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr6:163833400-163834800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:163833400-163835000	Active TSS	Brain Substantia Nigra	brain
13	chr6:163833400-163835400	Active TSS	Brain Angular Gyrus	brain
14	chr6:163833400-163835600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:163833400-163836200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:163833400-163838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:163833400-163838600	Active TSS	Fetal Kidney	kidney
18	chr6:163833400-163838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:163833400-163839400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:163833400-163839400	Active TSS	NH-A	brain
21	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
25	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:163833400-163841400	Active TSS	NHLF	lung
28	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
29	chr6:163833600-163835200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:163833600-163835400	Active TSS	Brain Anterior Caudate	brain
31	chr6:163833600-163836200	Active TSS	Brain Germinal Matrix	brain
32	chr6:163833600-163837200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:163833600-163838000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr6:163833600-163838400	Active TSS	Placenta	Placenta
35	chr6:163833600-163838600	Active TSS	NHDF-Ad	bronchial
36	chr6:163833600-163838800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr6:163833600-163838800	Active TSS	Hela-S3	cervix
38	chr6:163833600-163839400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:163833600-163839600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:163833600-163840000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:163833600-163840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:163833600-163841400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:163833600-163841400	Active TSS	HSMM	muscle
44	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
45	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:163833800-163835000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:163833800-163835200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr6:163833800-163838000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:163833800-163838000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr6:163833800-163838200	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links