Variant report

Variant	rs2267123
Chromosome Location	chr22:28284061-28284062
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28282458..28285409-chr22:28313416..28316132,4	MCF-7	breast:
2	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:
3	chr22:28282766..28284835-chr22:28303057..28305816,2	MCF-7	breast:
4	chr22:28283637..28286512-chr22:28293366..28294906,2	MCF-7	breast:
5	chr22:28283009..28285381-chr22:28406270..28408539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12160891	0.85[CHD][hapmap]
rs2013115	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2143180	0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs5762395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762396	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762403	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997320	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs714743	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
6	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
9	chr22:28277800-28308400	Strong transcription	Dnd41	blood
10	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
11	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
16	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
20	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:28279600-28284200	Weak transcription	Fetal Brain Female	brain
23	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
25	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr22:28279800-28292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:28280000-28284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:28280200-28284400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:28280200-28284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:28280200-28284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:28280400-28284200	Genic enhancers	NHDF-Ad	bronchial
33	chr22:28280400-28287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:28280600-28284200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:28280600-28284200	Weak transcription	HepG2	liver
36	chr22:28280600-28284800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:28280600-28284800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr22:28280600-28292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:28280800-28284400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr22:28281200-28289200	Strong transcription	K562	blood
42	chr22:28281600-28298600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr22:28281800-28295800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:28282000-28284200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr22:28282000-28285000	Strong transcription	Colonic Mucosa	Colon
47	chr22:28282200-28284600	Weak transcription	Brain Germinal Matrix	brain
48	chr22:28282200-28284800	Weak transcription	Spleen	Spleen
49	chr22:28282400-28284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:28282400-28284600	Genic enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links