Variant report

Variant	rs73794825
Chromosome Location	chr4:2932785-2932786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:2932700-2932850	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr4:2932720-2932870	GM12874	blood:	n/a	n/a
3	POLR2A	chr4:2932732-2932945	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:2932773-2934678	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:2929559-2936017	GM12878	blood:	n/a	n/a
6	CTCF	chr4:2932720-2932870	GM12866	blood:	n/a	n/a
7	CTCF	chr4:2932727-2932845	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr4:2932686-2932930	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr4:2932720-2932870	GM12872	blood:	n/a	n/a
10	CTCF	chr4:2932699-2932938	NHEK	skin:	n/a	n/a
11	CTCF	chr4:2932740-2932890	HCT-116	colon:	n/a	n/a
12	CTCF	chr4:2932720-2932870	HEK293	kidney:	n/a	n/a
13	POLR2A	chr4:2930254-2934156	A549	lung:	n/a	n/a
14	POLR2A	chr4:2932590-2935163	GM18505	blood:	n/a	n/a
15	CTCF	chr4:2932760-2932910	GM12875	blood:	n/a	n/a
16	CTCF	chr4:2932720-2932870	HMEC	breast:	n/a	n/a
17	CTCF	chr4:2932700-2932850	K562	blood:	n/a	n/a
18	POLR2A	chr4:2932331-2934648	K562	blood:	n/a	n/a
19	POLR2A	chr4:2932732-2932939	HCT-116	colon:	n/a	n/a
20	POLR2A	chr4:2932498-2933468	K562	blood:	n/a	n/a
21	CTCF	chr4:2932733-2932885	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:2932740-2932890	WERI-Rb-1	eye:	n/a	n/a
23	POLR2A	chr4:2932509-2932889	H1-neurons	neurons:	n/a	n/a
24	CTCF	chr4:2932680-2932830	GM12868	blood:	n/a	n/a
25	CTCF	chr4:2932753-2932837	GM13977	blood:	n/a	n/a
26	POLR2A	chr4:2932566-2933774	A549	lung:	n/a	n/a
27	CTCF	chr4:2932720-2932870	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr4:2932740-2932890	BE2_C	brain:	n/a	n/a
29	CTCF	chr4:2932752-2932873	LNCaP	prostate:	n/a	n/a
30	CTCF	chr4:2932780-2932930	HFF	foreskin:	n/a	n/a
31	POLR2A	chr4:2932745-2933350	K562	blood:	n/a	n/a
32	CTCF	chr4:2932720-2932870	HPAF	blood vessel:	n/a	n/a
33	POLR2A	chr4:2930058-2935267	GM12892	blood:	n/a	n/a
34	CTCF	chr4:2932740-2932890	NHEK	skin:	n/a	n/a
35	CTCF	chr4:2932700-2932850	GM12871	blood:	n/a	n/a
36	CTCF	chr4:2932700-2932850	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr4:2932700-2932850	GM12865	blood:	n/a	n/a
38	CTCF	chr4:2932780-2932930	GM12873	blood:	n/a	n/a
39	POLR2A	chr4:2932449-2934032	GM12891	blood:	n/a	n/a
40	POLR2A	chr4:2929805-2936295	HL-60	blood:	n/a	n/a
41	CCNT2	chr4:2932729-2933239	K562	blood:	n/a	n/a
42	POLR2A	chr4:2931859-2933573	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr4:2932680-2932830	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr4:2932754-2932855	GM19240	blood:	n/a	n/a
45	CTCF	chr4:2932660-2932810	BJ	skin:	n/a	n/a
46	CTCF	chr4:2932700-2932850	HRPEpiC	eye:	n/a	n/a
47	RAD21	chr4:2932523-2932917	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr4:2932760-2932910	GM12872	blood:	n/a	n/a
49	CTCF	chr4:2932739-2932835	GM10266	blood:	n/a	n/a
50	CTCF	chr4:2932740-2932890	SAEC	small airway:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2903718..2915473-chr4:2930612..2941584,27	MCF-7	breast:
2	chr4:2905536..2909706-chr4:2929255..2933631,5	MCF-7	breast:
3	chr4:2818050..2820446-chr4:2931198..2934919,4	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2753882..2759883-chr4:2932429..2941474,15	MCF-7	breast:
6	chr4:2798213..2801828-chr4:2930948..2933812,4	MCF-7	breast:
7	chr4:2747787..2749353-chr4:2932713..2934414,2	MCF-7	breast:
8	chr4:2900149..2902689-chr4:2931088..2933616,2	MCF-7	breast:
9	chr4:2844667..2846499-chr4:2932403..2934582,2	MCF-7	breast:

No data

Variant related genes	Relation type
NOP14-AS1	TF binding region
ENSG00000087274	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	1.00[AMR][1000 genomes]
rs56315133	1.00[AMR][1000 genomes]
rs57551202	1.00[AMR][1000 genomes]
rs57960709	1.00[AMR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs60514033	1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs73792109	1.00[AMR][1000 genomes]
rs73792110	1.00[AMR][1000 genomes]
rs73792112	1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AMR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
2	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
4	chr4:2912600-2934800	Weak transcription	A549	lung
5	chr4:2913000-2935000	Weak transcription	K562	blood
6	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
7	chr4:2923800-2933600	Strong transcription	Thymus	Thymus
8	chr4:2924000-2934400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:2924200-2932800	Strong transcription	Adipose Nuclei	Adipose
10	chr4:2924200-2933000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr4:2924200-2934400	Strong transcription	Fetal Stomach	stomach
12	chr4:2924200-2934800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:2924400-2933800	Strong transcription	Fetal Brain Female	brain
14	chr4:2924400-2934200	Strong transcription	Brain Germinal Matrix	brain
15	chr4:2924800-2933600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:2925000-2933800	Strong transcription	Dnd41	blood
17	chr4:2925000-2934400	Strong transcription	Osteobl	bone
18	chr4:2925200-2933200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:2925200-2933400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr4:2925200-2934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:2925400-2932800	Strong transcription	Primary T cells from cord blood	blood
22	chr4:2925400-2932800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:2925400-2933000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:2925400-2933200	Strong transcription	HSMMtube	muscle
25	chr4:2925400-2933400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:2925400-2934400	Strong transcription	NHLF	lung
27	chr4:2925600-2932800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:2925600-2932800	Strong transcription	GM12878-XiMat	blood
29	chr4:2925600-2933000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:2925600-2933000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:2925600-2933000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:2925600-2933200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:2925600-2933800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:2925600-2934200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:2925600-2934400	Strong transcription	NHEK	skin
36	chr4:2925800-2933000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:2925800-2934200	Strong transcription	Esophagus	oesophagus
38	chr4:2925800-2935000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:2926000-2933200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:2926000-2933200	Strong transcription	Aorta	Aorta
41	chr4:2926000-2933600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:2926000-2934200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:2926000-2934400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:2926200-2933000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:2926200-2935000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:2926400-2933200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:2926600-2934600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:2926600-2935200	Weak transcription	Fetal Kidney	kidney
49	chr4:2926600-2936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:2927000-2933200	Weak transcription	Primary hematopoietic stem cells	blood

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