Variant report

Variant	rs16835357
Chromosome Location	chr1:153466829-153466830
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153466147..153468573-chr1:153470167..153472287,2	MCF-7	breast:
2	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
3	chr1:153359777..153361314-chr1:153466006..153468984,2	MCF-7	breast:
4	chr1:153324602..153325710-chr1:153466750..153468036,9	K562	blood:
5	chr1:153366171..153367906-chr1:153465906..153468901,2	MCF-7	breast:
6	chr1:153440789..153442801-chr1:153466066..153467903,2	MCF-7	breast:
7	chr1:153327211..153328627-chr1:153466495..153468029,11	MCF-7	breast:
8	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
9	chr1:153437206..153440694-chr1:153466029..153468031,4	MCF-7	breast:
10	chr1:153324635..153326715-chr1:153466816..153468514,22	MCF-7	breast:
11	chr1:153324699..153327134-chr1:153466308..153468062,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163220	Chromatin interaction
ENSG00000163218	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11488667	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11973	1.00[EUR][1000 genomes]
rs16835362	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835371	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835373	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835375	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs16835379	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16835389	1.00[EUR][1000 genomes]
rs16835409	1.00[EUR][1000 genomes]
rs16835413	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16835417	1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs2230870	1.00[EUR][1000 genomes]
rs2233863	1.00[TSI][hapmap]
rs28373144	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28407716	1.00[EUR][1000 genomes]
rs28442251	1.00[EUR][1000 genomes]
rs28451322	1.00[EUR][1000 genomes]
rs28456342	1.00[EUR][1000 genomes]
rs28485860	1.00[EUR][1000 genomes]
rs28510499	1.00[EUR][1000 genomes]
rs28578863	1.00[EUR][1000 genomes]
rs28587171	1.00[EUR][1000 genomes]
rs28605603	1.00[EUR][1000 genomes]
rs28634320	1.00[EUR][1000 genomes]
rs28645589	1.00[EUR][1000 genomes]
rs28648662	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28690872	1.00[EUR][1000 genomes]
rs28694652	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28709866	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28784102	1.00[EUR][1000 genomes]
rs3006417	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3006419	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3014827	1.00[EUR][1000 genomes]
rs3014873	1.00[MEX][hapmap]
rs3014883	1.00[MEX][hapmap]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[EUR][1000 genomes]
rs56255753	1.00[EUR][1000 genomes]
rs56401460	1.00[EUR][1000 genomes]
rs58529054	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59209384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59617976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219287	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60460123	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61038462	1.00[EUR][1000 genomes]
rs61131911	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61148582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020461	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020478	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020496	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73020497	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73024502	1.00[EUR][1000 genomes]
rs73026308	1.00[EUR][1000 genomes]
rs730347	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs74115477	1.00[EUR][1000 genomes]
rs74115478	1.00[EUR][1000 genomes]
rs74115489	1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[EUR][1000 genomes]
rs7543851	1.00[EUR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153451000-153467400	Weak transcription	Ovary	ovary
2	chr1:153459000-153467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:153461600-153467600	Weak transcription	Psoas Muscle	Psoas
4	chr1:153462800-153479000	Weak transcription	Right Atrium	heart
5	chr1:153463000-153467600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:153463000-153467600	Weak transcription	Right Ventricle	heart
7	chr1:153463200-153467200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:153463400-153467600	Weak transcription	Pancreas	Pancrea
9	chr1:153463600-153467000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:153463800-153467000	Weak transcription	Fetal Stomach	stomach
11	chr1:153464000-153467600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:153464000-153469600	Weak transcription	Fetal Lung	lung
13	chr1:153464200-153467600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:153464400-153467200	Weak transcription	HSMM	muscle
15	chr1:153464400-153467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:153464400-153467600	Weak transcription	Esophagus	oesophagus
17	chr1:153464400-153467600	Weak transcription	Fetal Thymus	thymus
18	chr1:153464400-153467600	Weak transcription	Left Ventricle	heart
19	chr1:153464400-153467600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:153464400-153467600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:153464400-153471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:153465000-153467200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:153465000-153467600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:153465000-153467600	Enhancers	HMEC	breast
25	chr1:153465800-153468600	Enhancers	Fetal Heart	heart
26	chr1:153466000-153467600	Weak transcription	Placenta	Placenta
27	chr1:153466000-153467800	Enhancers	Colon Smooth Muscle	Colon
28	chr1:153466000-153467800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:153466200-153467000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:153466200-153467400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:153466200-153471200	Weak transcription	Aorta	Aorta
32	chr1:153466400-153467400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:153466400-153467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:153466800-153467600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:153466800-153468400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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