Variant report

Variant	rs60534953
Chromosome Location	chr16:31207621-31207622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
2	chr16:30968533..30970596-chr16:31206944..31209887,2	K562	blood:
3	chr16:31207553..31209957-chr16:31462352..31464539,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUS-1	chr16:31207452-31208284	ENSG00000260060.1

Variant related genes	Relation type
ENSG00000175938	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000261487	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17839572	0.85[AFR][1000 genomes]
rs57108507	0.80[AFR][1000 genomes]
rs61733965	0.96[AFR][1000 genomes]
rs67676356	0.96[AFR][1000 genomes]
rs68121698	0.85[AFR][1000 genomes]
rs7202897	1.00[AFR][1000 genomes]
rs73530287	0.96[AFR][1000 genomes]
rs73530295	1.00[AFR][1000 genomes]
rs73530302	1.00[AFR][1000 genomes]
rs73532204	1.00[AFR][1000 genomes]
rs73532236	0.85[AFR][1000 genomes]
rs73532252	1.00[AFR][1000 genomes]
rs73532256	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 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	chr16:31194200-31208000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:31194200-31208200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
4	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
6	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
11	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
12	chr16:31195000-31208200	Strong transcription	NHEK	skin
13	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
20	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
21	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
23	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
24	chr16:31195400-31208400	Strong transcription	HMEC	breast
25	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
35	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
36	chr16:31195600-31208000	Strong transcription	Brain Hippocampus Middle	brain
37	chr16:31195600-31208000	Strong transcription	Left Ventricle	heart
38	chr16:31195600-31208000	Strong transcription	Rectal Smooth Muscle	rectum
39	chr16:31195600-31208000	Strong transcription	K562	blood
40	chr16:31195600-31208200	Strong transcription	Brain Anterior Caudate	brain
41	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain
42	chr16:31195600-31208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:31195600-31208800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:31195600-31208800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:31195600-31209400	Strong transcription	Lung	lung
46	chr16:31195600-31210600	Strong transcription	A549	lung
47	chr16:31195600-31210600	Strong transcription	NH-A	brain
48	chr16:31195600-31210800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:31195600-31211200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr16:31195600-31211200	Strong transcription	Fetal Intestine Small	intestine

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