Variant report

Variant	rs1891074
Chromosome Location	chr1:247497527-247497528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:247497416-247497686	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr1:247494289-247497747	K562	blood:	n/a	chr1:247494564-247494579
3	POLR2A	chr1:247494422-247505513	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:247494318-247498379	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:247494396-247499332	K562	blood:	n/a	n/a
6	POLR2A	chr1:247495590-247497683	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:247494236-247499105	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:247494209-247500059	K562	blood:	n/a	n/a
9	POLR2A	chr1:247496988-247497697	HepG2	liver:	n/a	n/a
10	SMARCC1	chr1:247495074-247497550	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:247496291-247498488	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:247497171-247497700	A549	lung:	n/a	n/a
13	POLR2A	chr1:247497151-247497758	K562	blood:	n/a	n/a
14	POLR2A	chr1:247493999-247497967	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr1:247497127-247497840	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:247494445-247501569	K562	blood:	n/a	n/a
17	POLR2A	chr1:247497303-247497728	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:247497460-247497616	MCF-7	breast:	n/a	n/a
19	POLR2A	chr1:247494301-247499306	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:247497390-247497736	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:247497426-247497757	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:247493567-247500327	K562	blood:	n/a	n/a
23	POLR2A	chr1:247494315-247499248	K562	blood:	n/a	n/a
24	POLR2A	chr1:247494342-247501582	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:247494334-247499143	K562	blood:	n/a	n/a
26	POLR2A	chr1:247495960-247497745	K562	blood:	n/a	n/a
27	POLR2A	chr1:247494333-247499244	K562	blood:	n/a	n/a
28	USF2	chr1:247496886-247497562	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:247497046-247497682	GM12891	blood:	n/a	n/a
30	POLR2A	chr1:247495093-247499947	K562	blood:	n/a	n/a
31	POLR2A	chr1:247493627-247501497	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:247494001-247498515	IMR90	lung:	n/a	n/a
33	POLR2A	chr1:247493863-247500190	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
2	chr1:247450966..247454008-chr1:247495973..247498678,3	K562	blood:
3	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
4	chr1:247089398..247090999-chr1:247497289..247500045,2	K562	blood:
5	chr1:247342736..247346262-chr1:247495942..247498816,3	K562	blood:
6	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
7	chr1:247496074..247498986-chr1:247563500..247566011,2	K562	blood:
8	chr1:247497043..247499378-chr1:247507440..247508988,2	MCF-7	breast:
9	chr1:247497133..247499092-chr1:249129196..249131643,2	K562	blood:
10	chr1:247497499..247499211-chr1:247511001..247512771,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-1	chr1:247496030-247497728	NONHSAT010772
2	lnc-NLRP3-1	chr1:247495187-247498708	NONHSAT010771

No data

Variant related genes	Relation type
ZNF496	TF binding region
ENSG00000162714	Chromatin interaction
ENSG00000135747	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1057996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732300	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10924980	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924984	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239714	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846406	1.00[EUR][1000 genomes]
rs1771919	1.00[EUR][1000 genomes]
rs1771928	1.00[EUR][1000 genomes]
rs1771944	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793288	1.00[EUR][1000 genomes]
rs2799179	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501868	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4925535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178323	1.00[EUR][1000 genomes]
rs61276550	1.00[EUR][1000 genomes]
rs6657577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669714	1.00[EUR][1000 genomes]
rs6671690	1.00[EUR][1000 genomes]
rs6676056	1.00[EUR][1000 genomes]
rs6689651	1.00[EUR][1000 genomes]
rs74152973	0.91[EUR][1000 genomes]
rs74152980	1.00[EUR][1000 genomes]
rs74152988	1.00[EUR][1000 genomes]
rs74152993	1.00[EUR][1000 genomes]
rs7517006	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947174	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	23 gene(s)	inside rSNPs	n/a
5	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
6	esv1799864	chr1:247494789-247500650	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247496000-247497600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:247496000-247497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:247496000-247498000	Weak transcription	Small Intestine	intestine
4	chr1:247496200-247497800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:247496200-247498200	Transcr. at gene 5' and 3'	K562	blood
6	chr1:247496200-247503000	Weak transcription	Aorta	Aorta
7	chr1:247496400-247498200	Enhancers	Psoas Muscle	Psoas
8	chr1:247496400-247498600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:247496400-247499200	Enhancers	Spleen	Spleen
10	chr1:247496400-247501600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:247496400-247511000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:247496600-247497600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:247496600-247497600	Enhancers	Lung	lung
14	chr1:247496600-247498000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr1:247496600-247498800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247496600-247499000	Enhancers	Right Ventricle	heart
17	chr1:247496600-247499200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:247496600-247499200	Enhancers	Fetal Lung	lung
19	chr1:247496600-247499200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
20	chr1:247496600-247499200	Enhancers	Left Ventricle	heart
21	chr1:247496600-247500400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:247496600-247501000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:247496600-247501000	Weak transcription	NHDF-Ad	bronchial
24	chr1:247496600-247505800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:247496600-247506000	Weak transcription	HSMMtube	muscle
26	chr1:247496600-247511000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:247496800-247497600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:247496800-247497600	Genic enhancers	Placenta	Placenta
29	chr1:247496800-247497800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:247496800-247497800	Genic enhancers	Dnd41	blood
31	chr1:247496800-247498000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr1:247496800-247498200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:247496800-247498200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:247496800-247498200	Enhancers	Fetal Heart	heart
35	chr1:247496800-247498200	Weak transcription	Fetal Kidney	kidney
36	chr1:247496800-247498200	Enhancers	HepG2	liver
37	chr1:247496800-247498400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:247496800-247498400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:247496800-247498400	Genic enhancers	Fetal Brain Female	brain
40	chr1:247496800-247498600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:247496800-247498800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:247496800-247498800	Enhancers	Pancreas	Pancrea
43	chr1:247496800-247499000	Weak transcription	HUVEC	blood vessel
44	chr1:247496800-247500400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:247496800-247500800	Weak transcription	Ovary	ovary
46	chr1:247496800-247501200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:247496800-247501200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr1:247496800-247501400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:247496800-247502000	Weak transcription	HSMM	muscle
50	chr1:247496800-247502200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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