Variant report

Variant	rs362300
Chromosome Location	chr4:3244928-3244929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr4:3244822-3245364	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:3244883-3245056	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:3244776-3245614	GM12892	blood:	n/a	n/a
4	POLR2A	chr4:3244619-3248406	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:3244102-3248493	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:3244903-3244958	K562	blood:	n/a	n/a
7	POLR2A	chr4:3244774-3245235	K562	blood:	n/a	n/a
8	RCOR1	chr4:3244852-3245184	K562	blood:	n/a	n/a
9	REST	chr4:3244919-3245303	K562	blood:	n/a	n/a
10	STAT5A	chr4:3244865-3245388	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:3244712-3247939	GM12892	blood:	n/a	n/a
12	POLR2A	chr4:3244693-3245553	GM12891	blood:	n/a	n/a
13	POLR2A	chr4:3244910-3246413	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:3244733-3245592	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:3244651-3247810	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:3244794-3245444	GM12891	blood:	n/a	n/a
17	POLR2A	chr4:3244754-3248080	GM12892	blood:	n/a	n/a
18	POLR2A	chr4:3244827-3245596	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3237753..3241593-chr4:3242889..3245748,3	K562	blood:
2	chr4:3243269..3245646-chr4:3270348..3272217,2	MCF-7	breast:
3	chr4:3242999..3245101-chr4:3255147..3256649,2	MCF-7	breast:
4	chr4:3241569..3245545-chr4:3246325..3249295,4	K562	blood:
5	chr4:3212742..3214641-chr4:3244184..3246248,2	K562	blood:
6	chr4:3243567..3245468-chr4:3259325..3261175,2	MCF-7	breast:
7	chr4:3243758..3245995-chr4:3246893..3248968,3	K562	blood:

No data

Variant related genes	Relation type
MSANTD1	TF binding region
ENSG00000188981	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs362294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv524211	chr4:3215835-3270488	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470003	chr4:3215835-3275484	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv878457	chr4:3231661-3278517	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:3206000-3246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:3207600-3245400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:3207600-3246400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:3207800-3245400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:3208200-3246400	Strong transcription	Fetal Thymus	thymus
8	chr4:3210000-3245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:3210000-3246600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:3210400-3247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:3211600-3246400	Strong transcription	Thymus	Thymus
12	chr4:3213400-3245600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:3213600-3245600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr4:3213800-3247600	Strong transcription	Primary T cells from cord blood	blood
15	chr4:3223400-3247600	Strong transcription	Fetal Brain Female	brain
16	chr4:3228800-3246600	Strong transcription	Liver	Liver
17	chr4:3229000-3245400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:3229800-3245200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:3229800-3245200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:3230000-3245600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:3230400-3245600	Strong transcription	Brain Germinal Matrix	brain
22	chr4:3231400-3247400	Strong transcription	Spleen	Spleen
23	chr4:3231600-3245000	Weak transcription	HMEC	breast
24	chr4:3235800-3245400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:3236000-3246600	Weak transcription	HSMM	muscle
26	chr4:3236000-3247400	Strong transcription	Brain Hippocampus Middle	brain
27	chr4:3237000-3246600	Strong transcription	Right Ventricle	heart
28	chr4:3237600-3247000	Strong transcription	Lung	lung
29	chr4:3238000-3259200	Weak transcription	HSMMtube	muscle
30	chr4:3238200-3250200	Weak transcription	Fetal Brain Male	brain
31	chr4:3238200-3255200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:3238200-3261400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:3238600-3245000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:3238600-3245600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr4:3238600-3259800	Weak transcription	NH-A	brain
36	chr4:3239200-3246600	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr4:3239600-3246000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:3239600-3246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:3239800-3247600	Genic enhancers	Fetal Stomach	stomach
40	chr4:3240000-3245000	Strong transcription	NHLF	lung
41	chr4:3240200-3245400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:3240400-3245000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:3240400-3245600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:3240600-3245600	Weak transcription	A549	lung
45	chr4:3241000-3245400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr4:3241200-3246000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:3241400-3245600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:3241600-3259200	Weak transcription	Small Intestine	intestine
49	chr4:3242000-3246000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:3242200-3248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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