Variant report

Variant	rs17474231
Chromosome Location	chr2:63230081-63230082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11897498	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs11901070	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs17027450	1.00[YRI][hapmap]
rs17027529	1.00[YRI][hapmap]
rs17027615	0.84[YRI][hapmap]
rs17408037	0.89[CEU][hapmap]
rs17473098	1.00[CEU][hapmap]
rs2068312	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs41363353	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63167600-63256000	Weak transcription	HSMMtube	muscle
3	chr2:63169800-63237000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:63170400-63255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:63171800-63233000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:63197600-63234800	Strong transcription	HepG2	liver
7	chr2:63199800-63258200	Weak transcription	Lung	lung
8	chr2:63200800-63239400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:63205000-63238200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:63205800-63232400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:63207600-63235200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:63207800-63234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:63207800-63246000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:63207800-63258000	Weak transcription	Placenta	Placenta
15	chr2:63208200-63242600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:63209400-63260000	Weak transcription	Aorta	Aorta
17	chr2:63209600-63239800	Weak transcription	Psoas Muscle	Psoas
18	chr2:63210000-63234200	Weak transcription	Fetal Thymus	thymus
19	chr2:63210000-63235400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:63210200-63232200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:63216400-63231400	Weak transcription	Fetal Brain Male	brain
22	chr2:63219200-63245600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:63219200-63269800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:63219400-63261600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:63220200-63250600	Weak transcription	Small Intestine	intestine
26	chr2:63220800-63236200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:63221400-63232200	Weak transcription	NH-A	brain
28	chr2:63221600-63230200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:63221600-63232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:63221600-63255600	Weak transcription	Fetal Kidney	kidney
31	chr2:63221800-63233800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:63221800-63245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:63221800-63255200	Weak transcription	Primary B cells from cord blood	blood
34	chr2:63224200-63242000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:63224400-63232200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:63224400-63233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:63224400-63234400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:63224400-63239800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:63224400-63240400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:63224400-63240400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:63224400-63240600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:63224400-63243800	Weak transcription	Fetal Stomach	stomach
43	chr2:63224400-63248400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:63224400-63251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:63224400-63256200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:63224600-63230200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:63224600-63233200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:63224600-63234000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:63224600-63234400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:63224600-63240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links