Variant report

Variant	rs72975365
Chromosome Location	chr3:136411778-136411779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136405715..136407497-chr3:136411173..136412850,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72971408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72971493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72985298	1.00[AMR][1000 genomes]
rs72989413	0.85[AFR][1000 genomes]
rs72989418	0.85[AFR][1000 genomes]
rs72989477	0.93[AFR][1000 genomes];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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
4	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
5	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:136400600-136412000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:136405000-136412400	Weak transcription	Fetal Intestine Small	intestine
10	chr3:136405400-136413000	Weak transcription	Fetal Heart	heart
11	chr3:136407600-136411800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:136407800-136412400	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:136408800-136412200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:136408800-136412400	Weak transcription	Right Atrium	heart
15	chr3:136408800-136414600	Weak transcription	Gastric	stomach
16	chr3:136409000-136412000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:136409400-136413000	Weak transcription	Adipose Nuclei	Adipose
18	chr3:136409400-136417800	Weak transcription	Aorta	Aorta
19	chr3:136409400-136422000	Weak transcription	Lung	lung
20	chr3:136410000-136412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:136410000-136413400	Enhancers	K562	blood
22	chr3:136410400-136411800	Enhancers	Brain Hippocampus Middle	brain
23	chr3:136410600-136411800	Enhancers	Brain Substantia Nigra	brain
24	chr3:136410600-136414800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:136410800-136412000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:136411000-136411800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:136411000-136412000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:136411000-136412000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:136411000-136414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:136411000-136415600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr3:136411000-136416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:136411000-136444400	Weak transcription	Fetal Lung	lung
33	chr3:136411200-136415000	Weak transcription	NHDF-Ad	bronchial
34	chr3:136411400-136416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:136411400-136417800	Weak transcription	Left Ventricle	heart
36	chr3:136411600-136411800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr3:136411600-136411800	Enhancers	HepG2	liver
38	chr3:136411600-136412600	Weak transcription	Psoas Muscle	Psoas
39	chr3:136411600-136413400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr3:136411600-136413600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:136411600-136416400	ZNF genes & repeats	Dnd41	blood
42	chr3:136411600-136419200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:136411600-136427800	Weak transcription	Right Ventricle	heart

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