Variant report

Variant	rs9914156
Chromosome Location	chr17:45894735-45894736
allele	A/G
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:2)
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	chr17:45894729-45894779	SK-N-SH	brain:	n/a
2	chr17:45894729-45894779	AG04450	lung:	fetal
3	chr17:45894729-45894779	HRE	kidney:	n/a
4	chr17:45894729-45894779	HAEpiC	amniotic membrane:	n/a
5	chr17:45894729-45894779	HUVEC	blood vessel:	n/a
6	chr17:45894729-45894779	HCF	heart:	n/a
7	chr17:45894729-45894779	Hela-S3	cervix:	n/a
8	chr17:45894729-45894779	RPTEC	kidney:	n/a
9	chr17:45894729-45894779	IMR90	lung:	fetal
10	chr17:45894729-45894779	AG10803	skin:	n/a
11	chr17:45894729-45894779	SAEC	small airway:	n/a
12	chr17:45894729-45894779	H1-hESC	embryonic stem cell:	embryo
13	chr17:45894729-45894779	GM19239	blood:	n/a
14	chr17:45894729-45894779	GM06990	blood:	n/a
15	chr17:45894729-45894779	SKMC	muscle:	n/a
16	chr17:45894729-45894779	GM12891	blood:	n/a
17	chr17:45894729-45894779	AG09309	skin:	n/a
18	chr17:45894729-45894779	GM12878	blood:	n/a
19	chr17:45894729-45894779	HL-60	blood:	n/a
20	chr17:45894729-45894779	CMK	blood:	n/a
21	chr17:45894729-45894779	NB4	blood:	n/a
22	chr17:45894729-45894779	HMEC	breast:	n/a
23	chr17:45894729-45894779	MCF10A-Er-Src	breast:	n/a
24	chr17:45894729-45894779	HRPEpiC	eye:	n/a
25	chr17:45894729-45894779	NH-A	brain:	n/a
26	chr17:45894729-45894779	PANC-1	pancreas:	n/a
27	chr17:45894729-45894779	HEEpiC	esophagus:	n/a
28	chr17:45894729-45894779	BE2_C	brain:	n/a
29	chr17:45894729-45894779	HCPEpiC	choroid plexus:	n/a
30	chr17:45894729-45894779	HCT-116	colon:	n/a
31	chr17:45894729-45894779	MCF-7	breast:	n/a
32	chr17:45894729-45894779	HRCEpiC	kidney:	n/a
33	chr17:45894729-45894779	SK-N-SH_RA	brain:	n/a
34	chr17:45894729-45894779	HIPEpiC	eye:	n/a
35	chr17:45894729-45894779	HCM	heart:	n/a
36	chr17:45894729-45894779	AG04449	skin:	fetal
37	chr17:45894729-45894779	ProgFib	skin:	n/a
38	chr17:45894729-45894779	ECC-1	luminal epithelium:	n/a
39	chr17:45894729-45894779	HepG2	liver:	n/a
40	chr17:45894729-45894779	ovcar-3	ovarian:	n/a
41	chr17:45894729-45894779	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:45894729-45894779	Hepatocyte	liver:	n/a
43	chr17:45894729-45894779	A549	lung:	n/a
44	chr17:45894729-45894779	PrEC	prostate:	n/a
45	chr17:45894729-45894779	T-47D	breast:	n/a
46	chr17:45894729-45894779	U87	brain:	n/a
47	chr17:45894729-45894779	SK-N-MC	brain:	n/a
48	chr17:45894729-45894779	NT2-D1	testis:	n/a
49	chr17:45894729-45894779	BJ	skin:	n/a
50	chr17:45894729-45894779	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45893502..45895112-chr17:45895113..45897490,2	MCF-7	breast:
2	chr17:45894310..45903569-chr17:45906761..45911816,14	MCF-7	breast:

No data

Variant related genes	Relation type
OSBPL7	CpG island
ENSG00000159111	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000141294	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1008934	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1018903	0.82[JPT][hapmap]
rs2023799	0.87[EUR][1000 genomes]
rs2074191	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35701113	0.91[ASN][1000 genomes]
rs6503871	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7220419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs757061	0.85[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs8079715	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9907142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs991108	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45881600-45897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45883400-45897600	Strong transcription	Fetal Stomach	stomach
4	chr17:45883400-45898200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:45883600-45897800	Weak transcription	Fetal Brain Male	brain
6	chr17:45884000-45896600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:45884000-45897000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:45884000-45897000	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr17:45884000-45897200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:45884000-45897200	Strong transcription	Brain Anterior Caudate	brain
11	chr17:45884000-45897200	Strong transcription	Thymus	Thymus
12	chr17:45884000-45897400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:45884000-45897400	Strong transcription	Spleen	Spleen
14	chr17:45884000-45898000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:45884000-45898400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:45884200-45896200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr17:45884200-45897000	Strong transcription	Brain Cingulate Gyrus	brain
18	chr17:45884200-45897200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:45884200-45897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:45884200-45897200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:45884200-45897400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:45884200-45897400	Strong transcription	Brain Hippocampus Middle	brain
23	chr17:45884200-45897400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr17:45884200-45897600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr17:45884200-45898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:45884400-45896600	Strong transcription	Brain Germinal Matrix	brain
27	chr17:45884400-45896800	Strong transcription	Brain Substantia Nigra	brain
28	chr17:45884400-45897000	Strong transcription	Primary T cells from cord blood	blood
29	chr17:45884400-45897000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:45884400-45897000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr17:45884400-45897200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:45884400-45897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:45884600-45896600	Strong transcription	Right Ventricle	heart
34	chr17:45884600-45896800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr17:45884600-45897000	Strong transcription	Brain Angular Gyrus	brain
36	chr17:45884600-45897000	Strong transcription	Fetal Brain Female	brain
37	chr17:45884600-45897200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr17:45884800-45897000	Strong transcription	Fetal Thymus	thymus
39	chr17:45884800-45897400	Strong transcription	Fetal Muscle Leg	muscle
40	chr17:45884800-45898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:45885000-45895400	Weak transcription	Psoas Muscle	Psoas
42	chr17:45885200-45898000	Weak transcription	Fetal Heart	heart
43	chr17:45887000-45898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr17:45887000-45898400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:45887200-45898200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:45887400-45898200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr17:45888200-45897200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr17:45888200-45897400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:45888400-45897200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:45888400-45897400	Weak transcription	HSMM	muscle

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