Variant report

Variant	rs57093686
Chromosome Location	chr2:100018038-100018039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:100017635-100023110	K562	blood:	n/a	n/a
2	POLR2A	chr2:100018012-100018422	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:100017950-100018517	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr2:100017861-100018628	K562	blood:	n/a	n/a
5	POLR2A	chr2:100010038-100028424	K562	blood:	n/a	n/a
6	POLR2A	chr2:100017971-100018599	K562	blood:	n/a	n/a
7	BCL3	chr2:100017491-100018041	K562	blood:	n/a	n/a
8	POLR2A	chr2:100011558-100023544	K562	blood:	n/a	n/a
9	POLR2A	chr2:100017908-100023255	K562	blood:	n/a	n/a
10	POLR2A	chr2:100018030-100019925	K562	blood:	n/a	n/a
11	POLR2A	chr2:100017668-100024580	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100015839..100018219-chr2:100019045..100021443,2	MCF-7	breast:
2	chr2:100017165..100019014-chr2:100021636..100024169,2	K562	blood:
3	chr2:100007416..100010173-chr2:100015934..100018693,2	MCF-7	breast:
4	chr2:100014826..100019014-chr2:100020376..100023136,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273306	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11542367	0.83[EUR][1000 genomes]
rs17022584	0.83[EUR][1000 genomes]
rs17022741	1.00[AMR][1000 genomes]
rs2167339	0.83[AMR][1000 genomes]
rs3087387	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55720283	0.83[EUR][1000 genomes]
rs56364129	0.83[EUR][1000 genomes]
rs56684522	0.83[AMR][1000 genomes]
rs57599963	0.83[AMR][1000 genomes]
rs57668619	0.83[AMR][1000 genomes]
rs57969550	0.83[AMR][1000 genomes]
rs58226642	1.00[AMR][1000 genomes]
rs58780429	0.83[AMR][1000 genomes]
rs59311105	1.00[AMR][1000 genomes]
rs59753430	1.00[AMR][1000 genomes]
rs59859749	1.00[AMR][1000 genomes]
rs60633946	1.00[AMR][1000 genomes]
rs61098335	0.83[EUR][1000 genomes]
rs6707685	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6723062	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761053	1.00[AMR][1000 genomes]
rs6761507	1.00[AMR][1000 genomes]
rs73964150	1.00[AMR][1000 genomes]
rs73964151	0.83[AMR][1000 genomes]
rs73964152	1.00[AMR][1000 genomes]
rs73964155	1.00[AMR][1000 genomes]
rs73964157	0.83[AMR][1000 genomes]
rs73964158	1.00[AMR][1000 genomes]
rs73964815	0.83[EUR][1000 genomes]
rs7568990	1.00[AMR][1000 genomes]
rs7570405	1.00[AMR][1000 genomes]
rs7571186	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7595242	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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100001000-100022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100005400-100020000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:100005800-100019600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:100005800-100019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:100005800-100062600	Strong transcription	Dnd41	blood
12	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:100006000-100019000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:100006000-100019200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:100006000-100019200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:100006000-100019600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
19	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
20	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:100006200-100019000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:100006200-100019800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
28	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:100006400-100019400	Strong transcription	Osteobl	bone
32	chr2:100006400-100020200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:100006400-100022600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:100006400-100023000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
36	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:100006600-100019000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:100006600-100019400	Strong transcription	Fetal Intestine Large	intestine
39	chr2:100006600-100019600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:100006600-100019600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:100006600-100020600	Strong transcription	Placenta	Placenta
42	chr2:100006600-100020800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:100006600-100022400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:100006600-100023000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:100006600-100023000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:100006600-100023000	Strong transcription	Thymus	Thymus
47	chr2:100006600-100023200	Strong transcription	K562	blood
48	chr2:100006600-100024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:100006600-100024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:100006600-100042600	Strong transcription	Fetal Muscle Trunk	muscle

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