Variant report

Variant	rs13419720
Chromosome Location	chr2:97573164-97573165
allele	C/G
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	chr2:97559950..97563991-chr2:97572149..97576823,4	K562	blood:
2	chr2:97572260..97573823-chr2:97580585..97582287,2	MCF-7	breast:
3	chr2:97568240..97570833-chr2:97573049..97574563,2	K562	blood:
4	chr2:97542354..97544469-chr2:97571292..97573499,2	K562	blood:
5	chr2:97534791..97536371-chr2:97573081..97574956,2	K562	blood:
6	chr2:97572989..97575814-chr2:97581255..97584534,3	K562	blood:
7	chr2:97572989..97575814-chr2:97581720..97584534,3	K562	blood:
8	chr2:97481675..97483983-chr2:97572049..97574143,2	MCF-7	breast:
9	chr2:97534484..97535272-chr2:97572993..97573776,2	MCF-7	breast:
10	chr2:97570898..97573698-chr2:97588276..97590943,2	K562	blood:
11	chr2:97572632..97575087-chr2:97615187..97616710,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10194350	1.00[AMR][1000 genomes]
rs10208112	1.00[AMR][1000 genomes]
rs12612694	1.00[EUR][1000 genomes]
rs12615663	1.00[EUR][1000 genomes]
rs12616466	1.00[EUR][1000 genomes]
rs12620989	1.00[EUR][1000 genomes]
rs13405293	1.00[AMR][1000 genomes]
rs13421281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422420	1.00[AMR][1000 genomes]
rs28438599	1.00[AMR][1000 genomes]
rs4481029	1.00[EUR][1000 genomes]
rs4907247	1.00[EUR][1000 genomes]
rs72941221	1.00[AMR][1000 genomes]
rs72941290	1.00[AMR][1000 genomes]
rs72942905	1.00[AMR][1000 genomes]
rs73959418	1.00[EUR][1000 genomes]
rs7582819	1.00[EUR][1000 genomes]
rs7597736	1.00[EUR][1000 genomes]
rs7599851	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97563400-97575200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:97563800-97573200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:97565000-97575000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:97569800-97573200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:97569800-97573200	Weak transcription	Fetal Brain Female	brain
6	chr2:97570000-97573800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:97570000-97575000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:97570000-97575400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:97570200-97575000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:97571800-97574400	Enhancers	Fetal Stomach	stomach
11	chr2:97572000-97573400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:97572000-97573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:97572000-97573800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:97572000-97573800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:97572000-97573800	Enhancers	Fetal Heart	heart
16	chr2:97572000-97574000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:97572000-97574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:97572000-97574000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:97572000-97574000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:97572000-97574000	Enhancers	Fetal Lung	lung
21	chr2:97572000-97574000	Enhancers	Placenta	Placenta
22	chr2:97572000-97574400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:97572000-97576000	Enhancers	Brain Substantia Nigra	brain
24	chr2:97572000-97576200	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:97572200-97573200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:97572200-97573200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:97572200-97573200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:97572200-97573200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:97572200-97573200	Active TSS	Aorta	Aorta
30	chr2:97572200-97573200	Flanking Active TSS	HSMMtube	muscle
31	chr2:97572200-97573400	Enhancers	Colonic Mucosa	Colon
32	chr2:97572200-97573400	Enhancers	Osteobl	bone
33	chr2:97572200-97573600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:97572200-97573600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:97572200-97573600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:97572200-97573600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:97572200-97573600	Enhancers	Fetal Intestine Large	intestine
38	chr2:97572200-97573600	Enhancers	K562	blood
39	chr2:97572200-97573600	Enhancers	NHLF	lung
40	chr2:97572200-97573800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:97572200-97573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:97572200-97573800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:97572200-97573800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:97572200-97573800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr2:97572200-97573800	Enhancers	Fetal Intestine Small	intestine
46	chr2:97572200-97573800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:97572200-97573800	Enhancers	Stomach Mucosa	stomach
48	chr2:97572200-97574000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:97572200-97574000	Enhancers	Esophagus	oesophagus
50	chr2:97572200-97574000	Enhancers	Ovary	ovary

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