Variant report

Variant	rs16909013
Chromosome Location	chr9:96068166-96068167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96067846-96068196	PFSK-1	brain:	n/a	n/a
2	CTCF	chr9:96068160-96068310	WI-38	lung:	n/a	n/a
3	POLR2A	chr9:96067964-96068335	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:95894765..95898074-chr9:96066261..96068998,4	MCF-7	breast:
2	chr9:96066434..96068269-chr9:96211890..96214349,2	MCF-7	breast:
3	chr9:95857138..95859184-chr9:96066087..96068302,2	MCF-7	breast:
4	chr9:95719154..95719747-chr9:96067293..96068188,3	MCF-7	breast:
5	chr9:96062175..96064911-chr9:96066749..96068321,2	K562	blood:
6	chr9:96062201..96063792-chr9:96065861..96068764,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000223446	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10118402	1.00[AMR][1000 genomes]
rs10121188	0.88[AFR][1000 genomes]
rs10761208	0.89[ASW][hapmap]
rs1111776	0.89[ASW][hapmap]
rs12341311	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12684392	0.89[ASW][hapmap]
rs28654199	0.90[AFR][1000 genomes]
rs73651203	0.90[AFR][1000 genomes]
rs7848480	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:96033600-96072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:96061000-96072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:96061400-96075000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:96061600-96070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:96061600-96079000	Weak transcription	Gastric	stomach
9	chr9:96062600-96069200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:96063000-96070200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:96063200-96072200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:96063400-96069200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:96063600-96070600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
15	chr9:96064800-96070200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:96065000-96079200	Weak transcription	Colonic Mucosa	Colon
17	chr9:96065200-96080000	Weak transcription	Spleen	Spleen
18	chr9:96065400-96073200	Strong transcription	Fetal Intestine Small	intestine
19	chr9:96065600-96069200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr9:96066000-96082800	Weak transcription	Fetal Thymus	thymus
21	chr9:96066200-96068800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:96066600-96068400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:96066800-96068600	Enhancers	Left Ventricle	heart
24	chr9:96066800-96068800	Enhancers	Psoas Muscle	Psoas
25	chr9:96067000-96068400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:96067000-96068400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:96067000-96068400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr9:96067000-96068600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr9:96067000-96070000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:96067200-96068400	Enhancers	Brain Angular Gyrus	brain
31	chr9:96067200-96069000	Enhancers	Brain Hippocampus Middle	brain
32	chr9:96067200-96072600	Strong transcription	Pancreas	Pancrea
33	chr9:96067200-96081200	Weak transcription	Fetal Heart	heart
34	chr9:96067400-96068200	Enhancers	Brain Anterior Caudate	brain
35	chr9:96067400-96068600	Enhancers	Adipose Nuclei	Adipose
36	chr9:96067400-96068800	Enhancers	Colon Smooth Muscle	Colon
37	chr9:96067400-96069400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:96067400-96074200	Weak transcription	HepG2	liver
39	chr9:96067600-96068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:96067600-96069000	Weak transcription	Brain Substantia Nigra	brain
41	chr9:96067600-96070800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr9:96067600-96073600	Strong transcription	Fetal Intestine Large	intestine
43	chr9:96067600-96079200	Weak transcription	Right Ventricle	heart
44	chr9:96067600-96086800	Weak transcription	Fetal Brain Male	brain
45	chr9:96067800-96068600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:96067800-96068600	Weak transcription	Fetal Brain Female	brain
47	chr9:96067800-96068800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:96067800-96069000	Strong transcription	Fetal Stomach	stomach
49	chr9:96067800-96086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:96068000-96068200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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