Variant report

Variant	rs13438585
Chromosome Location	chr7:99079503-99079504
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99068902..99074011-chr7:99074957..99079531,8	MCF-7	breast:
2	chr7:99076875..99080200-chr7:99096224..99098746,3	MCF-7	breast:
3	chr7:99078176..99080245-chr7:99100988..99102755,2	K562	blood:
4	chr7:99058626..99061250-chr7:99076948..99079594,2	K562	blood:
5	chr7:99078176..99080245-chr7:99100988..99102755,3	K562	blood:
6	chr7:99076847..99079587-chr7:99082808..99085715,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPSF4-1	chr7:99075897-99079949	NONHSAT122245

No data

Variant related genes	Relation type
ENSG00000196652	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000198556	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085823	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10231948	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10239443	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10249659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264303	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271695	1.00[EUR][1000 genomes]
rs10277362	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12386578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs14935	1.00[CEU][hapmap]
rs28374840	0.88[AMR][1000 genomes]
rs28378107	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28497153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564953	0.86[EUR][1000 genomes]
rs28734136	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3197990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45529834	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45558438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45599236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45610838	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4646454	1.00[ASN][1000 genomes]
rs60996680	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61435529	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs940334	1.00[CEU][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr7:99071200-99091000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:99071200-99091600	Weak transcription	Small Intestine	intestine
3	chr7:99071400-99081600	Weak transcription	Right Ventricle	heart
4	chr7:99071400-99090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:99071400-99090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:99071400-99090600	Weak transcription	Right Atrium	heart
7	chr7:99071400-99096200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:99071600-99090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:99071600-99091200	Weak transcription	Fetal Heart	heart
10	chr7:99071800-99079600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:99071800-99080200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:99071800-99081800	Weak transcription	Pancreas	Pancrea
13	chr7:99071800-99084400	Weak transcription	Fetal Brain Male	brain
14	chr7:99071800-99088600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:99071800-99090400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:99071800-99090400	Weak transcription	Brain Angular Gyrus	brain
17	chr7:99071800-99090400	Weak transcription	Psoas Muscle	Psoas
18	chr7:99071800-99090600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:99071800-99091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:99072000-99086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:99072400-99083600	Weak transcription	Stomach Mucosa	stomach
22	chr7:99072600-99091200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:99073000-99080000	Strong transcription	Brain Germinal Matrix	brain
24	chr7:99073200-99082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:99073600-99080200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:99073600-99080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:99073600-99084400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:99073800-99080200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:99073800-99080200	Strong transcription	A549	lung
30	chr7:99073800-99081600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:99073800-99083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:99073800-99085000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr7:99074000-99080200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:99074000-99080200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:99074000-99080200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:99074000-99080200	Strong transcription	Osteobl	bone
37	chr7:99074000-99083600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:99074000-99084600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:99074000-99090400	Weak transcription	Colonic Mucosa	Colon
40	chr7:99074200-99080800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:99074600-99083200	Strong transcription	Dnd41	blood
42	chr7:99075400-99083200	Strong transcription	Fetal Brain Female	brain
43	chr7:99075600-99080200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:99075600-99080600	Strong transcription	Liver	Liver
45	chr7:99076000-99084400	Weak transcription	Fetal Kidney	kidney
46	chr7:99076200-99079800	Weak transcription	HSMM	muscle
47	chr7:99076400-99081600	Weak transcription	Aorta	Aorta
48	chr7:99076600-99081600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:99076600-99085400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:99076600-99090400	Weak transcription	Lung	lung

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