Variant report

Variant	rs2229368
Chromosome Location	chr17:46134798-46134799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46134744-46135755	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:46133651-46137406	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:46133785-46135152	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:46134688-46138460	K562	blood:	n/a	n/a
5	POLR2A	chr17:46134570-46134966	HCT-116	colon:	n/a	n/a
6	STAT3	chr17:46134727-46134927	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46134798-46134848	SK-N-MC	brain:	n/a
2	chr17:46134798-46134848	SK-N-SH	brain:	n/a
3	chr17:46134798-46134848	GM19239	blood:	n/a
4	chr17:46134798-46134848	RPTEC	kidney:	n/a
5	chr17:46134798-46134848	HCPEpiC	choroid plexus:	n/a
6	chr17:46134798-46134848	SAEC	small airway:	n/a
7	chr17:46134798-46134848	Hela-S3	cervix:	n/a
8	chr17:46134798-46134848	AG09319	gingival:	n/a
9	chr17:46134798-46134848	MCF-7	breast:	n/a
10	chr17:46134798-46134848	AG10803	skin:	n/a
11	chr17:46134798-46134848	SK-N-SH_RA	brain:	n/a
12	chr17:46134798-46134848	PrEC	prostate:	n/a
13	chr17:46134798-46134848	GM12892	blood:	n/a
14	chr17:46134798-46134848	HCM	heart:	n/a
15	chr17:46134798-46134848	HEK293	kidney:	embryo
16	chr17:46134798-46134848	AG04450	lung:	fetal
17	chr17:46134798-46134848	PANC-1	pancreas:	n/a
18	chr17:46134798-46134848	HEEpiC	esophagus:	n/a
19	chr17:46134798-46134848	HMEC	breast:	n/a
20	chr17:46134798-46134848	HIPEpiC	eye:	n/a
21	chr17:46134798-46134848	AG04449	skin:	fetal
22	chr17:46134798-46134848	CMK	blood:	n/a
23	chr17:46134798-46134848	HCF	heart:	n/a
24	chr17:46134798-46134848	H1-hESC	embryonic stem cell:	embryo
25	chr17:46134798-46134848	ovcar-3	ovarian:	n/a
26	chr17:46134798-46134848	HNPCEpiC	eye:	n/a
27	chr17:46134798-46134848	HRE	kidney:	n/a
28	chr17:46134798-46134848	NHDF-neo	bronchial:	n/a
29	chr17:46134798-46134848	HRCEpiC	kidney:	n/a
30	chr17:46134798-46134848	Jurkat	blood:	n/a
31	chr17:46134798-46134848	GM12878	blood:	n/a
32	chr17:46134798-46134848	NT2-D1	testis:	n/a
33	chr17:46134798-46134848	K562	blood:	n/a
34	chr17:46134798-46134848	HAEpiC	amniotic membrane:	n/a
35	chr17:46134798-46134848	ProgFib	skin:	n/a
36	chr17:46134798-46134848	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:46134798-46134848	A549	lung:	n/a
38	chr17:46134798-46134848	HRPEpiC	eye:	n/a
39	chr17:46134798-46134848	BE2_C	brain:	n/a
40	chr17:46134798-46134848	MCF10A-Er-Src	breast:	n/a
41	chr17:46134798-46134848	Hepatocyte	liver:	n/a
42	chr17:46134798-46134848	U87	brain:	n/a
43	chr17:46134798-46134848	IMR90	lung:	fetal
44	chr17:46134798-46134848	BJ	skin:	n/a
45	chr17:46134798-46134848	AoSMC	blood vessel:	n/a
46	chr17:46134798-46134848	ECC-1	luminal epithelium:	n/a
47	chr17:46134798-46134848	NHBE	bronchial:	n/a
48	chr17:46134798-46134848	SKMC	muscle:	n/a
49	chr17:46134798-46134848	LNCaP	prostate:	n/a
50	chr17:46134798-46134848	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46134000..46136009-chr17:46177493..46180159,2	MCF-7	breast:
2	chr17:46132648..46135293-chr17:46184683..46187431,2	K562	blood:

No data

Variant related genes	Relation type
NFE2L1	TF binding region
NFE2L1	CpG island
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10853092	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11650044	1.00[ASN][1000 genomes]
rs1986719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2044985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs208016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2325715	1.00[ASN][1000 genomes]
rs2428607	1.00[ASN][1000 genomes]
rs2525108	1.00[ASN][1000 genomes]
rs2525111	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2597170	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28624980	0.95[EUR][1000 genomes]
rs35738964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4274478	1.00[ASN][1000 genomes]
rs6504092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73325389	0.95[EUR][1000 genomes]
rs7405753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8077814	1.00[CHB][hapmap]
rs8078698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9899623	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46128000-46138000	Genic enhancers	Spleen	Spleen
2	chr17:46128200-46140800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
4	chr17:46130600-46149800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46131000-46145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:46131400-46151000	Strong transcription	Thymus	Thymus
8	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46132600-46135400	Genic enhancers	Left Ventricle	heart
11	chr17:46132600-46136600	Strong transcription	HUVEC	blood vessel
12	chr17:46132600-46138000	Enhancers	Right Atrium	heart
13	chr17:46132600-46148000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
15	chr17:46132800-46135400	Strong transcription	Small Intestine	intestine
16	chr17:46132800-46135600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:46132800-46138200	Genic enhancers	Liver	Liver
18	chr17:46132800-46143800	Strong transcription	Rectal Smooth Muscle	rectum
19	chr17:46132800-46145600	Strong transcription	Fetal Intestine Small	intestine
20	chr17:46133000-46134800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:46133000-46134800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:46133000-46136400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:46133000-46137800	Strong transcription	Osteobl	bone
24	chr17:46133000-46140400	Strong transcription	NHLF	lung
25	chr17:46133000-46144400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr17:46133000-46145000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:46133000-46145600	Strong transcription	Fetal Intestine Large	intestine
28	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
29	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:46133200-46134800	Weak transcription	Stomach Mucosa	stomach
31	chr17:46133200-46137200	Strong transcription	Placenta	Placenta
32	chr17:46133200-46137800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:46133200-46138400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr17:46133200-46139600	Strong transcription	Fetal Lung	lung
35	chr17:46133200-46139800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:46133200-46139800	Strong transcription	Aorta	Aorta
37	chr17:46133200-46139800	Strong transcription	Pancreas	Pancrea
38	chr17:46133200-46140800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr17:46133200-46143400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr17:46133200-46143600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:46133200-46143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:46133200-46149400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
44	chr17:46133400-46135800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:46133400-46137200	Strong transcription	Lung	lung
46	chr17:46133400-46137600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:46133400-46137800	Strong transcription	NH-A	brain
48	chr17:46133400-46138000	Strong transcription	Esophagus	oesophagus
49	chr17:46133400-46138400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr17:46133400-46140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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