Variant report

Variant	rs221600
Chromosome Location	chr17:45263574-45263575
allele	A/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45262874..45265503-chr17:45367086..45368739,2	K562	blood:
2	chr17:45257003..45258810-chr17:45262193..45263942,2	MCF-7	breast:
3	chr17:45249552..45252803-chr17:45263494..45265675,3	MCF-7	breast:
4	chr17:45253169..45255870-chr17:45262068..45264746,2	MCF-7	breast:
5	chr17:45259720..45263817-chr17:45399412..45402337,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPRML-6	chr17:45262555-45264268	l_1461_chr17:45262554-45265845_brain

No data

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11079743	1.00[EUR][1000 genomes]
rs1634270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	1.00[EUR][1000 genomes]
rs3744452	1.00[EUR][1000 genomes]
rs3851783	1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs60521210	1.00[EUR][1000 genomes]
rs7211075	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73324419	1.00[AMR][1000 genomes]
rs73329161	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8078556	1.00[EUR][1000 genomes]
rs8080767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081202	1.00[EUR][1000 genomes]
rs858674	0.82[ASW][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908360	0.82[ASW][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893406	1.00[EUR][1000 genomes]
rs9915693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45257000-45265600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:45259000-45265600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:45259200-45263600	Weak transcription	Osteobl	bone
5	chr17:45259200-45264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:45259200-45264200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:45259200-45264200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45259200-45264200	Weak transcription	Primary B cells from cord blood	blood
9	chr17:45259200-45264400	Weak transcription	Fetal Intestine Small	intestine
10	chr17:45259200-45264600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:45259200-45264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:45259200-45264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:45259200-45264600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:45259200-45264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:45259200-45264800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr17:45259200-45264800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:45259200-45264800	Weak transcription	NHEK	skin
18	chr17:45259200-45265200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:45259200-45265200	Weak transcription	Fetal Kidney	kidney
20	chr17:45259200-45265200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:45259200-45265200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:45259200-45265200	Weak transcription	HMEC	breast
23	chr17:45259200-45265400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:45259200-45265400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:45259200-45265400	Weak transcription	Brain Anterior Caudate	brain
26	chr17:45259200-45265400	Weak transcription	Brain Substantia Nigra	brain
27	chr17:45259200-45265400	Weak transcription	Fetal Intestine Large	intestine
28	chr17:45259200-45265400	Weak transcription	Thymus	Thymus
29	chr17:45259200-45265400	Weak transcription	HSMMtube	muscle
30	chr17:45259200-45265400	Weak transcription	NH-A	brain
31	chr17:45259200-45265600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:45259200-45265600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45259200-45265600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:45259200-45265600	Weak transcription	Aorta	Aorta
35	chr17:45259200-45265600	Weak transcription	Colonic Mucosa	Colon
36	chr17:45259200-45265600	Weak transcription	Esophagus	oesophagus
37	chr17:45259200-45265600	Weak transcription	Placenta	Placenta
38	chr17:45259200-45265600	Weak transcription	Gastric	stomach
39	chr17:45259200-45265600	Weak transcription	Lung	lung
40	chr17:45259200-45265600	Weak transcription	Stomach Mucosa	stomach
41	chr17:45259200-45265800	Weak transcription	Spleen	Spleen
42	chr17:45259400-45263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:45259400-45264400	Weak transcription	Fetal Brain Female	brain
44	chr17:45259400-45264800	Weak transcription	Fetal Thymus	thymus
45	chr17:45259400-45265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:45259400-45265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:45259400-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:45259600-45265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr17:45260600-45264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:45260800-45265400	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links