Variant report

Variant	rs17102005
Chromosome Location	chr14:65184370-65184371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65174479..65176413-chr14:65184169..65186446,2	K562	blood:
2	chr14:65182060..65184778-chr14:65193626..65195204,2	MCF-7	breast:
3	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
4	chr14:65005659..65008435-chr14:65184165..65188343,3	MCF-7	breast:
5	chr14:65182677..65185308-chr14:65185864..65187831,2	K562	blood:
6	chr14:65183084..65185968-chr14:65190342..65192144,2	MCF-7	breast:
7	chr14:65182089..65184579-chr17:56735427..56737883,2	MCF-7	breast:
8	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
9	chr14:65006473..65008422-chr14:65184349..65186300,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10138311	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102000	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102003	0.87[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102007	1.00[ASW][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102018	1.00[GIH][hapmap]
rs17102019	1.00[GIH][hapmap]
rs41456047	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs4453374	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59115111	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271697	1.00[ASN][1000 genomes]
rs74056388	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74056389	1.00[ASN][1000 genomes]
rs74056391	1.00[ASN][1000 genomes]
rs74056394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74056396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65176000-65186400	Weak transcription	Osteobl	bone
2	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65180800-65185400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:65181200-65184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:65181200-65185800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:65181200-65189600	Enhancers	Liver	Liver
9	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:65181400-65184800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65181600-65189400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:65181800-65184600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:65181800-65185000	Enhancers	Fetal Muscle Trunk	muscle
14	chr14:65181800-65186200	Enhancers	Fetal Muscle Leg	muscle
15	chr14:65181800-65188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
18	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:65182000-65185200	Enhancers	Fetal Kidney	kidney
20	chr14:65182000-65185800	Enhancers	Gastric	stomach
21	chr14:65182000-65190800	Enhancers	Stomach Mucosa	stomach
22	chr14:65182200-65184400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:65182200-65184400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65182200-65184800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr14:65182200-65191600	Enhancers	Spleen	Spleen
26	chr14:65182600-65184400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:65182600-65184600	Enhancers	A549	lung
28	chr14:65182600-65187200	Enhancers	Left Ventricle	heart
29	chr14:65182800-65185800	Enhancers	Fetal Heart	heart
30	chr14:65182800-65186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:65182800-65187600	Enhancers	NH-A	brain
32	chr14:65182800-65193800	Enhancers	Esophagus	oesophagus
33	chr14:65183000-65184400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:65183000-65184400	Enhancers	Right Ventricle	heart
35	chr14:65183000-65184600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:65183000-65184600	Transcr. at gene 5' and 3'	NHEK	skin
37	chr14:65183000-65185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:65183000-65186000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:65183000-65194600	Weak transcription	Fetal Brain Female	brain
40	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
41	chr14:65183200-65184800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:65183200-65184800	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr14:65183200-65185000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:65183200-65186800	Enhancers	Placenta	Placenta
45	chr14:65183400-65184400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:65183400-65184400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:65183400-65184400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:65183400-65184600	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:65183400-65184600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr14:65183400-65184800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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