Variant report

Variant	rs4766904
Chromosome Location	chr12:118974672-118974673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4077117	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280057	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294617	0.89[ASN][1000 genomes]
rs4767683	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4767684	0.92[AMR][1000 genomes];0.85[EUR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899548	chr12:118909907-118987597	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2830233	chr12:118952486-119011469	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1038601	chr12:118958107-119023980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523621	chr12:118958608-119019143	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv560391	chr12:118958608-119019143	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1038024	chr12:118965736-119014468	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv541614	chr12:118965736-119014468	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4766904	DYNLL1	cis	cerebellum	SCAN
rs4766904	RAB35	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118958000-118978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118970400-118975000	Weak transcription	Ovary	ovary
3	chr12:118970400-118976000	Enhancers	Stomach Smooth Muscle	stomach
4	chr12:118970600-118975600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:118971600-118978600	Weak transcription	Right Atrium	heart
6	chr12:118972400-118975600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118972800-118975400	Enhancers	Colon Smooth Muscle	Colon
8	chr12:118973200-118975000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:118973200-118976400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:118973800-118975200	Enhancers	Placenta	Placenta
11	chr12:118973800-118975400	Enhancers	Aorta	Aorta
12	chr12:118973800-118975600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:118974000-118975000	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:118974000-118975400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:118974000-118975600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:118974000-118975600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:118974000-118975600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:118974000-118975600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:118974000-118975800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:118974000-118976400	Enhancers	Fetal Heart	heart
21	chr12:118974200-118975400	Enhancers	Left Ventricle	heart
22	chr12:118974200-118975600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:118974200-118975800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:118974200-118976000	Enhancers	NHDF-Ad	bronchial
25	chr12:118974200-118976800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:118974400-118975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:118974400-118975600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:118974400-118976800	Weak transcription	Psoas Muscle	Psoas
29	chr12:118974400-118978600	Weak transcription	Right Ventricle	heart
30	chr12:118974600-118975000	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links