Variant report

Variant	rs35199002
Chromosome Location	chr21:46267290-46267291
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46266013..46268902-chr21:46273662..46275301,2	MCF-7	breast:
2	chr21:46249355..46252823-chr21:46264579..46267372,3	K562	blood:
3	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
4	chr21:46220066..46223506-chr21:46264882..46267873,4	MCF-7	breast:
5	chr21:46236130..46239998-chr21:46264824..46268393,7	MCF-7	breast:
6	chr21:46264366..46267434-chr21:46346160..46349229,4	MCF-7	breast:
7	chr21:46220004..46222694-chr21:46265684..46268092,3	K562	blood:
8	chr21:46180771..46183502-chr21:46265966..46267491,2	MCF-7	breast:
9	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
10	chr21:46266846..46268611-chr21:46268857..46270465,2	MCF-7	breast:
11	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
12	chr21:46264380..46268999-chr21:46269204..46276124,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1054220	1.00[ASN][1000 genomes]
rs13050968	0.81[ASN][1000 genomes]
rs13051277	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13052639	1.00[ASN][1000 genomes]
rs2117340	0.81[ASN][1000 genomes]
rs2117341	0.81[ASN][1000 genomes]
rs2236442	1.00[ASN][1000 genomes]
rs2838711	0.97[ASN][1000 genomes]
rs2838712	0.81[ASN][1000 genomes]
rs2838713	0.97[ASN][1000 genomes]
rs35424519	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432315	0.81[ASN][1000 genomes]
rs35846107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810586	0.81[ASN][1000 genomes]
rs7279563	0.81[ASN][1000 genomes]
rs9647236	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913967	chr21:46249752-46279505	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35199002	PTTG1IP	cis	lung	GTEx
rs35199002	PTTG1IP	cis	Heart Left Ventricle	GTEx
rs35199002	PTTG1IP	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46264200-46267600	Enhancers	Gastric	stomach
2	chr21:46264400-46267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:46264600-46268800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:46265400-46267400	Enhancers	Lung	lung
5	chr21:46265400-46267600	Enhancers	Esophagus	oesophagus
6	chr21:46265400-46267600	Enhancers	Fetal Lung	lung
7	chr21:46265400-46268000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr21:46265400-46268000	Enhancers	Spleen	Spleen
9	chr21:46266000-46267400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:46266000-46267600	Flanking Active TSS	HepG2	liver
11	chr21:46266000-46267800	Enhancers	Placenta	Placenta
12	chr21:46266000-46267800	Enhancers	Left Ventricle	heart
13	chr21:46266000-46267800	Enhancers	HSMMtube	muscle
14	chr21:46266000-46268600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:46266000-46268800	Weak transcription	Ovary	ovary
16	chr21:46266200-46267400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:46266200-46267400	Enhancers	Fetal Intestine Small	intestine
18	chr21:46266200-46267600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:46266200-46267600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr21:46266200-46267600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:46266200-46267600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr21:46266200-46268200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:46266200-46268200	Enhancers	Colonic Mucosa	Colon
24	chr21:46266200-46268600	Enhancers	Fetal Intestine Large	intestine
25	chr21:46266200-46268800	Weak transcription	Psoas Muscle	Psoas
26	chr21:46266200-46269200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:46266400-46267400	Genic enhancers	Right Atrium	heart
28	chr21:46266400-46267600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:46266400-46267600	Enhancers	Right Ventricle	heart
30	chr21:46266400-46267800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr21:46266400-46267800	Enhancers	Pancreas	Pancrea
32	chr21:46266400-46269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr21:46266400-46269200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr21:46266400-46269400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:46266600-46267400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:46266600-46267400	Enhancers	Adipose Nuclei	Adipose
37	chr21:46266600-46267600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr21:46266600-46267600	Enhancers	Osteobl	bone
39	chr21:46266600-46267800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr21:46266600-46268000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:46266600-46268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr21:46266600-46268800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:46266600-46268800	Weak transcription	Primary T cells from cord blood	blood
44	chr21:46266600-46268800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr21:46266600-46269200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr21:46266600-46269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:46266600-46278800	Weak transcription	Fetal Kidney	kidney
48	chr21:46266800-46267400	Enhancers	Fetal Brain Female	brain
49	chr21:46266800-46267600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr21:46266800-46267600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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