Variant report

Variant	rs13389454
Chromosome Location	chr2:114512125-114512126
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114509032..114512220-chr2:114645424..114649150,4	K562	blood:
2	chr2:114486595..114488482-chr2:114509848..114512197,2	K562	blood:
3	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
4	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
5	chr2:114511724..114513896-chr2:114718190..114720983,2	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12386146	1.00[ASN][1000 genomes]
rs34264290	0.89[ASN][1000 genomes]
rs36094493	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4849274	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
6	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:114495800-114512200	Weak transcription	Fetal Heart	heart
10	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
11	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
12	chr2:114502000-114512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:114504000-114512600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:114504200-114512200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:114504600-114512600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:114505000-114513000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:114505000-114513200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:114506000-114512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:114506800-114512800	Weak transcription	Colonic Mucosa	Colon
21	chr2:114507000-114512600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:114507000-114512600	Weak transcription	Right Ventricle	heart
23	chr2:114507000-114512800	Weak transcription	Fetal Thymus	thymus
24	chr2:114507000-114513000	Weak transcription	Gastric	stomach
25	chr2:114507000-114513000	Weak transcription	Pancreas	Pancrea
26	chr2:114507000-114513400	Weak transcription	Spleen	Spleen
27	chr2:114507400-114512600	Weak transcription	Psoas Muscle	Psoas
28	chr2:114508400-114512200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:114508400-114512400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:114508600-114512200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:114508600-114512600	Weak transcription	Thymus	Thymus
32	chr2:114508800-114512200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:114508800-114512600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:114508800-114513000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:114508800-114513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:114508800-114513400	Weak transcription	Lung	lung
37	chr2:114509000-114512200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:114509000-114512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:114509000-114512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:114509000-114512200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:114509000-114512200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:114509000-114512400	Weak transcription	K562	blood
43	chr2:114509000-114512600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:114509000-114512600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:114509000-114512600	Weak transcription	Ovary	ovary
46	chr2:114509000-114513000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:114509200-114512200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:114509200-114512600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:114509200-114513000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:114509400-114512200	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links