Variant report

Variant	rs7198651
Chromosome Location	chr16:81577806-81577807
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
2	chr16:81576754..81578558-chr17:59489114..59491385,2	MCF-7	breast:
3	chr16:81576839..81579779-chr16:81583456..81585257,2	K562	blood:
4	chr16:81547505..81549676-chr16:81576353..81579232,2	MCF-7	breast:
5	chr16:81571814..81573956-chr16:81577277..81579755,3	K562	blood:
6	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
7	chr16:81478553..81481266-chr16:81577586..81580261,2	MCF-7	breast:
8	chr16:81575502..81578399-chr16:81587269..81589357,4	MCF-7	breast:
9	chr16:81569545..81572844-chr16:81574996..81578300,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13331139	1.00[EUR][1000 genomes]
rs16955600	1.00[EUR][1000 genomes]
rs16955606	1.00[EUR][1000 genomes]
rs16955612	1.00[EUR][1000 genomes]
rs4243207	1.00[EUR][1000 genomes]
rs4889338	1.00[EUR][1000 genomes]
rs56360425	1.00[EUR][1000 genomes]
rs56787727	1.00[EUR][1000 genomes]
rs57177093	1.00[EUR][1000 genomes]
rs60095351	1.00[EUR][1000 genomes]
rs60730964	1.00[EUR][1000 genomes]
rs60880568	1.00[EUR][1000 genomes]
rs61079357	1.00[EUR][1000 genomes]
rs61293946	1.00[EUR][1000 genomes]
rs7191922	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191961	1.00[EUR][1000 genomes]
rs73594488	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73596424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73596429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73596439	1.00[EUR][1000 genomes]
rs73596448	1.00[EUR][1000 genomes]
rs73596482	1.00[EUR][1000 genomes]
rs73596490	1.00[EUR][1000 genomes]
rs73596500	1.00[EUR][1000 genomes]
rs73596501	1.00[EUR][1000 genomes]
rs73598433	1.00[EUR][1000 genomes]
rs73598441	1.00[EUR][1000 genomes]
rs74031207	1.00[EUR][1000 genomes]
rs74031208	1.00[EUR][1000 genomes]
rs74031210	1.00[EUR][1000 genomes]
rs8057329	1.00[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
7	chr16:81568000-81582000	Genic enhancers	A549	lung
8	chr16:81569800-81578000	Weak transcription	HMEC	breast
9	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
10	chr16:81573000-81578000	Weak transcription	Fetal Heart	heart
11	chr16:81573200-81578200	Weak transcription	Brain Anterior Caudate	brain
12	chr16:81573200-81578200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:81573200-81580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:81573400-81578200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:81573400-81579800	Weak transcription	Brain Germinal Matrix	brain
16	chr16:81573600-81578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:81573600-81578200	Weak transcription	NHEK	skin
18	chr16:81573600-81578600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:81573800-81579000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:81574800-81579200	Enhancers	Fetal Lung	lung
23	chr16:81575000-81578600	Enhancers	HUVEC	blood vessel
24	chr16:81575000-81579000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:81575000-81579000	Enhancers	Fetal Intestine Large	intestine
26	chr16:81575000-81579200	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:81575000-81587600	Enhancers	Lung	lung
28	chr16:81575200-81578800	Enhancers	Stomach Mucosa	stomach
29	chr16:81575400-81578200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:81575600-81578400	Enhancers	Left Ventricle	heart
31	chr16:81575600-81579000	Enhancers	Ovary	ovary
32	chr16:81575600-81579200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr16:81575800-81578200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:81575800-81578400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:81575800-81578400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:81575800-81578800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:81576000-81578200	Flanking Active TSS	HepG2	liver
38	chr16:81576000-81578600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr16:81576000-81578800	Genic enhancers	Fetal Stomach	stomach
40	chr16:81576000-81578800	Enhancers	NHLF	lung
41	chr16:81576000-81579000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:81576000-81579000	Enhancers	Placenta	Placenta
43	chr16:81576000-81579200	Enhancers	NHDF-Ad	bronchial
44	chr16:81576000-81579200	Enhancers	Osteobl	bone
45	chr16:81576000-81579400	Enhancers	Spleen	Spleen
46	chr16:81576000-81579600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr16:81576000-81580000	Enhancers	Liver	Liver
48	chr16:81576200-81578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:81576200-81579600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr16:81576200-81580000	Enhancers	Esophagus	oesophagus

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