Variant report

Variant	rs9880310
Chromosome Location	chr3:194901303-194901304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:194901035-194901345	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr3:194901160-194901310	GM12864	blood:	n/a	n/a
3	POLR2A	chr3:194901249-194901355	K562	blood:	n/a	n/a
4	POLR2A	chr3:194900418-194901344	K562	blood:	n/a	n/a
5	BHLHE40	chr3:194901201-194901519	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:194836053..194838640-chr3:194899308..194901875,2	K562	blood:
2	chr3:194900921..194903802-chr3:194925208..194927083,2	K562	blood:
3	chr3:194353289..194354867-chr3:194901188..194903422,2	K562	blood:
4	chr3:194897295..194902438-chr3:194905804..194908922,5	K562	blood:
5	chr3:194897295..194902185-chr3:194905804..194909141,6	K562	blood:
6	chr3:194879840..194881692-chr3:194900733..194902679,2	K562	blood:
7	chr3:194891367..194893935-chr3:194901247..194904072,2	K562	blood:

No data

Variant related genes	Relation type
XXYLT1	TF binding region
ENSG00000229334	Chromatin interaction
ENSG00000145014	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs6775088	1.00[EUR][1000 genomes]
rs6778914	1.00[EUR][1000 genomes]
rs6784442	1.00[EUR][1000 genomes]
rs6784851	1.00[EUR][1000 genomes]
rs6790238	1.00[EUR][1000 genomes]
rs6791397	1.00[EUR][1000 genomes]
rs73062364	1.00[EUR][1000 genomes]
rs73062366	1.00[EUR][1000 genomes]
rs73893250	1.00[AMR][1000 genomes]
rs7611411	1.00[EUR][1000 genomes]
rs7628016	1.00[EUR][1000 genomes]
rs7652775	1.00[AMR][1000 genomes]
rs9856249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription 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	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
2	chr3:194881600-194903000	Weak transcription	HSMM	muscle
3	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
6	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:194885400-194906600	Weak transcription	Gastric	stomach
8	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:194892200-194902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:194892400-194907400	Weak transcription	HSMMtube	muscle
11	chr3:194892600-194906200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:194893400-194902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:194893600-194902200	Weak transcription	NHEK	skin
14	chr3:194893600-194903000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:194893800-194902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:194893800-194903200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:194894000-194903200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:194894200-194902400	Weak transcription	Fetal Brain Female	brain
19	chr3:194896600-194903800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:194896600-194908000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:194896600-194909200	Weak transcription	Pancreas	Pancrea
22	chr3:194896800-194902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:194897000-194906000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:194897200-194904400	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:194897800-194902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:194898000-194902400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:194898200-194901800	Weak transcription	Fetal Kidney	kidney
28	chr3:194898200-194902200	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:194898200-194903400	Enhancers	Fetal Thymus	thymus
30	chr3:194898200-194904200	Enhancers	Fetal Lung	lung
31	chr3:194898600-194901400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:194898600-194903000	Enhancers	HUVEC	blood vessel
33	chr3:194898800-194901400	Enhancers	Fetal Stomach	stomach
34	chr3:194898800-194901600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:194898800-194902000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:194898800-194903000	Enhancers	Left Ventricle	heart
37	chr3:194898800-194903200	Enhancers	Adipose Nuclei	Adipose
38	chr3:194898800-194903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:194898800-194905000	Enhancers	Fetal Muscle Leg	muscle
40	chr3:194899000-194901600	Enhancers	Right Ventricle	heart
41	chr3:194899000-194901800	Enhancers	Lung	lung
42	chr3:194899000-194903400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:194899200-194904000	Enhancers	Esophagus	oesophagus
44	chr3:194899400-194901400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:194899400-194901600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:194899400-194902200	Weak transcription	Brain Angular Gyrus	brain
47	chr3:194899400-194902800	Weak transcription	Osteobl	bone
48	chr3:194899400-194903000	Enhancers	Right Atrium	heart
49	chr3:194899400-194905400	Weak transcription	Stomach Mucosa	stomach
50	chr3:194899600-194901400	Enhancers	Stomach Smooth Muscle	stomach

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