Variant report

Variant	rs13403445
Chromosome Location	chr2:234340134-234340135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234340123-234340705	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234333615..234335569-chr2:234339010..234340778,2	K562	blood:
2	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422131	1.00[AMR][1000 genomes]
rs13426533	1.00[AMR][1000 genomes]
rs57845501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58172277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59148909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59937078	1.00[AMR][1000 genomes]
rs73110079	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73123152	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234328800-234343000	Weak transcription	Liver	Liver
3	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
4	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
5	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
15	chr2:234331200-234344000	Weak transcription	Dnd41	blood
16	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
17	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:234333200-234343200	Weak transcription	HepG2	liver
19	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
22	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
23	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234333600-234343400	Weak transcription	Lung	lung
28	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:234334200-234340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:234335600-234340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:234335600-234343200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:234335600-234343600	Strong transcription	Primary B cells from cord blood	blood
35	chr2:234335600-234344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:234335600-234344000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:234335600-234344800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:234335800-234344200	Weak transcription	Small Intestine	intestine
39	chr2:234336000-234343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:234336000-234343400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:234336000-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:234336000-234343400	Weak transcription	Aorta	Aorta
43	chr2:234336400-234340400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:234336800-234343200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:234336800-234343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:234337200-234343000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:234337200-234343200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:234337400-234343000	Weak transcription	Brain Substantia Nigra	brain
49	chr2:234337400-234343200	Weak transcription	Fetal Stomach	stomach
50	chr2:234337800-234343000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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