Variant report

Variant	rs57986391
Chromosome Location	chr1:228403248-228403249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228403247-228403297	HRPEpiC	eye:	n/a
2	chr1:228403247-228403297	A549	lung:	n/a
3	chr1:228403247-228403297	T-47D	breast:	n/a
4	chr1:228403247-228403297	AG04449	skin:	fetal
5	chr1:228403247-228403297	HMEC	breast:	n/a
6	chr1:228403247-228403297	NHDF-neo	bronchial:	n/a
7	chr1:228403247-228403297	GM12878	blood:	n/a
8	chr1:228403247-228403297	HIPEpiC	eye:	n/a
9	chr1:228403247-228403297	AG09319	gingival:	n/a
10	chr1:228403247-228403297	SK-N-MC	brain:	n/a
11	chr1:228403247-228403297	IMR90	lung:	fetal
12	chr1:228403247-228403297	Caco-2	colon:	n/a
13	chr1:228403247-228403297	BJ	skin:	n/a
14	chr1:228403247-228403297	NB4	blood:	n/a
15	chr1:228403247-228403297	PFSK-1	brain:	n/a
16	chr1:228403247-228403297	AoSMC	blood vessel:	n/a
17	chr1:228403247-228403297	HepG2	liver:	n/a
18	chr1:228403247-228403297	HL-60	blood:	n/a
19	chr1:228403247-228403297	HAEpiC	amniotic membrane:	n/a
20	chr1:228403247-228403297	AG10803	skin:	n/a
21	chr1:228403247-228403297	Jurkat	blood:	n/a
22	chr1:228403247-228403297	HNPCEpiC	eye:	n/a
23	chr1:228403247-228403297	HCT-116	colon:	n/a
24	chr1:228403247-228403297	RPTEC	kidney:	n/a
25	chr1:228403247-228403297	HRE	kidney:	n/a
26	chr1:228403247-228403297	U87	brain:	n/a
27	chr1:228403247-228403297	HUVEC	blood vessel:	n/a
28	chr1:228403247-228403297	HEEpiC	esophagus:	n/a
29	chr1:228403247-228403297	MCF-7	breast:	n/a
30	chr1:228403247-228403297	SAEC	small airway:	n/a
31	chr1:228403247-228403297	SK-N-SH_RA	brain:	n/a
32	chr1:228403247-228403297	BE2_C	brain:	n/a
33	chr1:228403247-228403297	SKMC	muscle:	n/a
34	chr1:228403247-228403297	ProgFib	skin:	n/a
35	chr1:228403247-228403297	HEK293	kidney:	embryo
36	chr1:228403247-228403297	HRCEpiC	kidney:	n/a
37	chr1:228403247-228403297	NHBE	bronchial:	n/a
38	chr1:228403247-228403297	NT2-D1	testis:	n/a
39	chr1:228403247-228403297	GM06990	blood:	n/a
40	chr1:228403247-228403297	NH-A	brain:	n/a
41	chr1:228403247-228403297	HCF	heart:	n/a
42	chr1:228403247-228403297	MCF10A-Er-Src	breast:	n/a
43	chr1:228403247-228403297	CMK	blood:	n/a
44	chr1:228403247-228403297	ECC-1	luminal epithelium:	n/a
45	chr1:228403247-228403297	PANC-1	pancreas:	n/a
46	chr1:228403247-228403297	AG04450	lung:	fetal
47	chr1:228403247-228403297	H1-hESC	embryonic stem cell:	embryo
48	chr1:228403247-228403297	Hepatocyte	liver:	n/a
49	chr1:228403247-228403297	GM19239	blood:	n/a
50	chr1:228403247-228403297	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228401876..228404808-chr1:228460949..228463356,3	K562	blood:
2	chr1:228400987..228403639-chr1:228644070..228647036,3	K562	blood:
3	chr1:228401076..228403639-chr1:228645192..228647036,2	K562	blood:

No data

Variant related genes	Relation type
OBSCN	CpG island
C1orf145	CpG island
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000269890	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12060771	0.94[AFR][1000 genomes]
rs3845621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57278773	1.00[AFR][1000 genomes]
rs57342039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59850477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60200244	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60639760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60648546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656212	1.00[AMR][1000 genomes]
rs6676755	1.00[AMR][1000 genomes]
rs6704220	1.00[AMR][1000 genomes]
rs9728319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription 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 lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription 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	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228395800-228405200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr1:228400600-228404200	Active TSS	Brain Anterior Caudate	brain
3	chr1:228401400-228403800	Genic enhancers	Left Ventricle	heart
4	chr1:228401400-228404200	Enhancers	Fetal Brain Male	brain
5	chr1:228401400-228405200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:228401400-228412200	Weak transcription	HSMMtube	muscle
7	chr1:228401400-228412600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:228401600-228412200	Weak transcription	Right Atrium	heart
9	chr1:228401800-228404400	Genic enhancers	Right Ventricle	heart
10	chr1:228401800-228407200	Weak transcription	Ovary	ovary
11	chr1:228401800-228412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:228402000-228404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:228402000-228404600	Enhancers	Fetal Heart	heart
14	chr1:228402000-228405000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
15	chr1:228402000-228406800	Weak transcription	Psoas Muscle	Psoas
16	chr1:228402000-228407200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:228402000-228407200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:228402000-228412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:228402000-228412200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:228402000-228412200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:228402000-228412600	Weak transcription	Fetal Kidney	kidney
22	chr1:228402200-228403400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:228402200-228403400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:228402200-228403600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:228402200-228403600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:228402200-228403600	Weak transcription	Gastric	stomach
27	chr1:228402200-228404000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:228402200-228404600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:228402200-228406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:228402200-228410200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:228402200-228411800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:228402200-228412200	Weak transcription	A549	lung
33	chr1:228402200-228412200	Weak transcription	Hela-S3	cervix
34	chr1:228402200-228412200	Weak transcription	NHEK	skin
35	chr1:228402200-228412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:228402200-228412600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:228402200-228415200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:228402200-228425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:228402200-228428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:228402400-228403400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:228402400-228403400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:228402400-228403400	Genic enhancers	Lung	lung
43	chr1:228402400-228403600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:228402400-228403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:228402400-228404400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:228402400-228404600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:228402400-228404800	Genic enhancers	Fetal Muscle Leg	muscle
48	chr1:228402400-228406600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:228402400-228408400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:228402400-228411400	Strong transcription	Fetal Intestine Small	intestine

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