Variant report

Variant	rs58700777
Chromosome Location	chr3:195892469-195892470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195890392..195892758-chr3:195896649..195898282,2	K562	blood:
2	chr3:195807237..195809801-chr3:195891488..195894845,3	MCF-7	breast:
3	chr3:195890135..195892758-chr3:195896649..195899546,2	K562	blood:
4	chr3:195869399..195874058-chr3:195891436..195894559,4	K562	blood:
5	chr3:195868179..195870899-chr3:195889538..195893919,5	K562	blood:

Variant related genes	Relation type
ENSG00000224652	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs4927876	0.82[ASN][1000 genomes]
rs56279356	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56911964	1.00[EUR][1000 genomes]
rs58864991	1.00[EUR][1000 genomes]
rs59710182	1.00[EUR][1000 genomes]
rs59713295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60648170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61056092	1.00[EUR][1000 genomes]
rs61099590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61274928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62410503	0.82[ASN][1000 genomes]
rs6583292	0.82[ASN][1000 genomes]
rs6770976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810012	1.00[EUR][1000 genomes]
rs73074940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074955	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074956	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077031	1.00[EUR][1000 genomes]
rs73077038	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077068	1.00[EUR][1000 genomes]
rs73077071	1.00[EUR][1000 genomes]
rs73083213	1.00[EUR][1000 genomes]
rs73083214	1.00[EUR][1000 genomes]
rs73083217	1.00[EUR][1000 genomes]
rs73083235	1.00[EUR][1000 genomes]
rs73083237	1.00[EUR][1000 genomes]
rs73083239	1.00[EUR][1000 genomes]
rs73083243	1.00[EUR][1000 genomes]
rs73083244	1.00[EUR][1000 genomes]
rs73084675	1.00[EUR][1000 genomes]
rs73086605	1.00[EUR][1000 genomes]
rs73086612	1.00[EUR][1000 genomes]
rs73086630	1.00[EUR][1000 genomes]
rs73086658	1.00[EUR][1000 genomes]
rs73086659	1.00[EUR][1000 genomes]
rs73086666	1.00[EUR][1000 genomes]
rs73086670	1.00[EUR][1000 genomes]
rs73086675	1.00[EUR][1000 genomes]
rs73088704	1.00[EUR][1000 genomes]
rs7373119	0.82[ASN][1000 genomes]
rs73891217	1.00[ASN][1000 genomes]
rs7614756	1.00[ASN][1000 genomes]
rs7617332	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
17	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
20	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
21	nsv1004194	chr3:195864466-195919077	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv536891	chr3:195864466-195919077	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
24	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
25	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
26	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
27	esv3394908	chr3:195890255-195893553	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv3415477	chr3:195890355-195893653	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195883400-195904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:195887200-195893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:195887600-195892800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:195887600-195905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:195887800-195896800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:195888600-195893200	Enhancers	Stomach Mucosa	stomach
7	chr3:195889600-195892600	Enhancers	Pancreas	Pancrea
8	chr3:195890000-195895800	Weak transcription	Dnd41	blood
9	chr3:195890400-195892800	Enhancers	K562	blood
10	chr3:195890400-195893200	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:195890800-195892600	Weak transcription	Fetal Brain Female	brain
12	chr3:195890800-195895600	Weak transcription	Liver	Liver
13	chr3:195891000-195892800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:195891000-195892800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:195891000-195893000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:195891200-195905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:195891400-195893000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:195891400-195895800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:195891600-195893000	Enhancers	Gastric	stomach
20	chr3:195891600-195893000	Enhancers	Hela-S3	cervix
21	chr3:195891600-195895600	Weak transcription	Adipose Nuclei	Adipose
22	chr3:195891600-195895600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:195891600-195904400	Weak transcription	Colonic Mucosa	Colon
24	chr3:195891800-195893000	Enhancers	Right Ventricle	heart
25	chr3:195891800-195893400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:195891800-195896200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:195891800-195896600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:195891800-195905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:195891800-195906200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:195892000-195892600	Active TSS	HSMMtube	muscle
31	chr3:195892000-195893200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:195892000-195896000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:195892200-195892600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:195892200-195893200	Enhancers	Placenta	Placenta
35	chr3:195892200-195895600	Weak transcription	Left Ventricle	heart
36	chr3:195892200-195895800	Weak transcription	Fetal Heart	heart
37	chr3:195892400-195892600	Enhancers	Fetal Intestine Small	intestine
38	chr3:195892400-195892600	Enhancers	Fetal Muscle Leg	muscle
39	chr3:195892400-195892600	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr3:195892400-195892800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:195892400-195893000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:195892400-195893000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr3:195892400-195902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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