Variant report

Variant	rs73792109
Chromosome Location	chr4:2963278-2963279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:2963063-2964245	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:2963144-2963636	GM12878	blood:	n/a	n/a
3	UBTF	chr4:2963139-2966263	K562	blood:	n/a	n/a
4	MAX	chr4:2963092-2966134	NB4	blood:	n/a	chr4:2965876-2965886 chr4:2965246-2965255
5	POLR2A	chr4:2963047-2966632	MCF10A-Er-Src	breast:	n/a	n/a
6	KAP1	chr4:2963204-2963990	U2OS	brain:	n/a	n/a
7	ZNF274	chr4:2962176-2963300	K562	blood:	n/a	n/a
8	MYC	chr4:2963149-2963532	NB4	blood:	n/a	n/a
9	POLR2A	chr4:2963077-2963753	K562	blood:	n/a	n/a
10	JUN	chr4:2963038-2966039	K562	blood:	n/a	chr4:2965875-2965884
11	POLR2A	chr4:2963220-2963408	K562	blood:	n/a	n/a
12	POLR2A	chr4:2963071-2963498	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:2963223-2963413	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:2963169-2963437	HepG2	liver:	n/a	n/a
15	MAX	chr4:2963069-2963467	K562	blood:	n/a	n/a
16	MAX	chr4:2963179-2963409	HepG2	liver:	n/a	n/a
17	MAZ	chr4:2963249-2963319	K562	blood:	n/a	n/a
18	MXI1	chr4:2963102-2963530	HepG2	liver:	n/a	n/a
19	HDAC2	chr4:2962866-2963280	K562	blood:	n/a	n/a
20	POLR2A	chr4:2963027-2963897	SK-N-MC	brain:	n/a	n/a
21	ARID3A	chr4:2963128-2963328	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:2963187-2963801	GM12891	blood:	n/a	n/a
23	MXI1	chr4:2963015-2966472	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr4:2963100-2963330	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr4:2963193-2963426	K562	blood:	n/a	n/a
26	POLR2A	chr4:2963071-2964319	GM12892	blood:	n/a	n/a
27	POLR2A	chr4:2963214-2963399	GM12891	blood:	n/a	n/a
28	BRCA1	chr4:2963194-2963383	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:2963182-2963444	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:2963067-2963471	HL-60	blood:	n/a	n/a
31	MXI1	chr4:2963144-2963530	K562	blood:	n/a	n/a
32	SIN3AK20	chr4:2963158-2963424	K562	blood:	n/a	n/a
33	POLR2A	chr4:2963024-2963995	GM12892	blood:	n/a	n/a
34	MYC	chr4:2963164-2965858	K562	blood:	n/a	chr4:2965246-2965255

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2963261-2963311	SK-N-SH	brain:	n/a
2	chr4:2963264-2963314	RPTEC	kidney:	n/a
3	chr4:2963261-2963311	GM12891	blood:	n/a
4	chr4:2963261-2963311	Caco-2	colon:	n/a
5	chr4:2963264-2963314	GM12892	blood:	n/a
6	chr4:2963264-2963314	PANC-1	pancreas:	n/a
7	chr4:2963264-2963314	SAEC	small airway:	n/a
8	chr4:2963261-2963311	SKMC	muscle:	n/a
9	chr4:2963261-2963311	HepG2	liver:	n/a
10	chr4:2963261-2963311	Hela-S3	cervix:	n/a
11	chr4:2963261-2963311	NH-A	brain:	n/a
12	chr4:2963264-2963314	PrEC	prostate:	n/a
13	chr4:2963261-2963311	NT2-D1	testis:	n/a
14	chr4:2963261-2963311	GM06990	blood:	n/a
15	chr4:2963261-2963311	NB4	blood:	n/a
16	chr4:2963264-2963314	NHBE	bronchial:	n/a
17	chr4:2963261-2963311	NHBE	bronchial:	n/a
18	chr4:2963261-2963311	BJ	skin:	n/a
19	chr4:2963261-2963311	SK-N-SH_RA	brain:	n/a
20	chr4:2963261-2963311	CMK	blood:	n/a
21	chr4:2963261-2963311	HAEpiC	amniotic membrane:	n/a
22	chr4:2963264-2963314	AG09319	gingival:	n/a
23	chr4:2963264-2963314	HEK293	kidney:	embryo
24	chr4:2963264-2963314	BJ	skin:	n/a
25	chr4:2963264-2963314	SK-N-SH_RA	brain:	n/a
26	chr4:2963264-2963314	HepG2	liver:	n/a
27	chr4:2963264-2963314	Caco-2	colon:	n/a
28	chr4:2963261-2963311	T-47D	breast:	n/a
29	chr4:2963261-2963311	HMEC	breast:	n/a
30	chr4:2963264-2963314	SKMC	muscle:	n/a
31	chr4:2963261-2963311	MCF-7	breast:	n/a
32	chr4:2963264-2963314	U87	brain:	n/a
33	chr4:2963261-2963311	AG04450	lung:	fetal
34	chr4:2963264-2963314	HEEpiC	esophagus:	n/a
35	chr4:2963261-2963311	HIPEpiC	eye:	n/a
36	chr4:2963261-2963311	SAEC	small airway:	n/a
37	chr4:2963261-2963311	AoSMC	blood vessel:	n/a
38	chr4:2963264-2963314	NT2-D1	testis:	n/a
39	chr4:2963264-2963314	HMEC	breast:	n/a
40	chr4:2963264-2963314	GM06990	blood:	n/a
41	chr4:2963261-2963311	A549	lung:	n/a
42	chr4:2963264-2963314	ProgFib	skin:	n/a
43	chr4:2963261-2963311	HEK293	kidney:	embryo
44	chr4:2963264-2963314	NH-A	brain:	n/a
45	chr4:2963261-2963311	HNPCEpiC	eye:	n/a
46	chr4:2963261-2963311	ProgFib	skin:	n/a
47	chr4:2963264-2963314	GM12891	blood:	n/a
48	chr4:2963261-2963311	AG09319	gingival:	n/a
49	chr4:2963264-2963314	SK-N-MC	brain:	n/a
50	chr4:2963261-2963311	HRCEpiC	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
2	chr4:2756517..2759780-chr4:2963075..2966456,5	K562	blood:
3	chr4:2937577..2939558-chr4:2961657..2964358,2	MCF-7	breast:
4	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
5	chr4:2948388..2950164-chr4:2962609..2964597,2	MCF-7	breast:
6	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
7	chr4:2756517..2759604-chr4:2963075..2966301,5	K562	blood:
8	chr4:2961872..2963731-chr4:3064483..3066913,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-1	chr4:2963081-2963465	ENSG00000249673

No data

Variant related genes	Relation type
GRK4	TF binding region
GRK4	CpG island
ENSG00000168884	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909241	1.00[AFR][1000 genomes]
rs56204916	1.00[AFR][1000 genomes]
rs56315133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57551202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112051	1.00[AFR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs58479563	1.00[AFR][1000 genomes]
rs58555511	1.00[AFR][1000 genomes]
rs58936143	1.00[AFR][1000 genomes]
rs60480235	1.00[AFR][1000 genomes]
rs60514033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61377156	1.00[AFR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6830234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6837197	1.00[AFR][1000 genomes]
rs6840149	1.00[AFR][1000 genomes]
rs6852880	1.00[AFR][1000 genomes]
rs73792110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792119	0.89[AFR][1000 genomes]
rs73792122	1.00[AFR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3430800	chr4:2961729-2964002	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3371193	chr4:2962104-2963452	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv878453	chr4:2963222-3021383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:2959200-2964400	Weak transcription	Aorta	Aorta
2	chr4:2959400-2963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:2959800-2963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:2960600-2963400	Weak transcription	Thymus	Thymus
5	chr4:2960600-2963600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:2960800-2964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:2963000-2963400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:2963000-2963400	Flanking Active TSS	GM12878-XiMat	blood
9	chr4:2963000-2963600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
10	chr4:2963000-2963600	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:2963000-2963600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:2963000-2963600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:2963000-2963600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:2963000-2963600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:2963000-2963600	Enhancers	Fetal Intestine Large	intestine
16	chr4:2963000-2963600	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:2963000-2963600	Enhancers	Fetal Thymus	thymus
18	chr4:2963000-2963600	Enhancers	Gastric	stomach
19	chr4:2963000-2963800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:2963000-2963800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:2963000-2963800	Flanking Active TSS	Pancreas	Pancrea
22	chr4:2963000-2963800	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr4:2963000-2963800	Flanking Active TSS	HepG2	liver
24	chr4:2963000-2963800	Flanking Active TSS	HMEC	breast
25	chr4:2963000-2964000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:2963000-2964000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:2963000-2964000	Enhancers	Primary B cells from cord blood	blood
28	chr4:2963000-2964000	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:2963000-2964000	Genic enhancers	Fetal Stomach	stomach
30	chr4:2963000-2964000	Enhancers	Left Ventricle	heart
31	chr4:2963000-2964000	Enhancers	Small Intestine	intestine
32	chr4:2963000-2964000	Transcr. at gene 5' and 3'	K562	blood
33	chr4:2963000-2964200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:2963000-2964200	Flanking Active TSS	Hela-S3	cervix
35	chr4:2963000-2964400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:2963000-2964600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr4:2963000-2964600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr4:2963000-2964600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr4:2963000-2964600	Flanking Active TSS	HUVEC	blood vessel
40	chr4:2963000-2964800	Flanking Active TSS	Liver	Liver
41	chr4:2963000-2965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:2963000-2965400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:2963000-2966400	Active TSS	Psoas Muscle	Psoas
44	chr4:2963200-2963400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:2963200-2963400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr4:2963200-2963400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:2963200-2963400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:2963200-2963400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:2963200-2963400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr4:2963200-2963400	Genic enhancers	Brain Hippocampus Middle	brain

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