Variant report

Variant	rs28768765
Chromosome Location	chr2:7121007-7121008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170175	0.85[EUR][1000 genomes]
rs10206107	0.81[EUR][1000 genomes]
rs10495548	0.85[ASN][1000 genomes]
rs11898648	0.85[ASN][1000 genomes]
rs12465410	0.85[ASN][1000 genomes]
rs13399190	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13408347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13412118	0.81[EUR][1000 genomes]
rs13413864	0.81[EUR][1000 genomes]
rs13418719	0.85[ASN][1000 genomes]
rs13422407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1797554	0.92[ASN][1000 genomes]
rs2292931	0.85[ASN][1000 genomes]
rs700943	0.84[ASN][1000 genomes]
rs771256	0.90[ASN][1000 genomes]
rs771257	0.92[ASN][1000 genomes]
rs771259	0.95[ASN][1000 genomes]
rs771263	0.92[ASN][1000 genomes]
rs771265	0.92[ASN][1000 genomes]
rs771266	0.92[ASN][1000 genomes]

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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:7099000-7123600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
8	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:7106200-7123200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:7112400-7122400	Weak transcription	Fetal Kidney	kidney
14	chr2:7112400-7122800	Weak transcription	Ovary	ovary
15	chr2:7113000-7122800	Weak transcription	Lung	lung
16	chr2:7113600-7123600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
19	chr2:7117200-7122600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:7117600-7121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:7117600-7126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:7117800-7122800	Weak transcription	Fetal Brain Female	brain
23	chr2:7117800-7122800	Weak transcription	Fetal Heart	heart
24	chr2:7118000-7123000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:7118200-7123200	Weak transcription	Fetal Brain Male	brain
26	chr2:7118400-7122200	Weak transcription	Fetal Lung	lung
27	chr2:7118400-7122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:7118400-7122800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:7118400-7123200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:7118800-7122800	Weak transcription	Psoas Muscle	Psoas
31	chr2:7119000-7122800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:7119200-7123000	Weak transcription	Right Atrium	heart
33	chr2:7119200-7123000	Weak transcription	Right Ventricle	heart
34	chr2:7119200-7126800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:7119400-7122400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:7119400-7122800	Weak transcription	Left Ventricle	heart
37	chr2:7119600-7121600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr2:7119600-7122200	Weak transcription	Brain Substantia Nigra	brain
39	chr2:7119600-7122600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:7119600-7122600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:7119600-7122800	Weak transcription	Brain Angular Gyrus	brain
42	chr2:7119600-7123200	Weak transcription	Spleen	Spleen
43	chr2:7120000-7121200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:7120000-7121200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:7120000-7121400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr2:7120000-7121800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:7120200-7121200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:7120200-7121400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:7120200-7121400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr2:7120200-7121400	ZNF genes & repeats	Fetal Thymus	thymus

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