Variant report

Variant	rs73721280
Chromosome Location	chr7:127661434-127661435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127651652..127655831-chr7:127659275..127661755,4	K562	blood:
2	chr7:127660092..127663407-chr7:127669055..127671780,3	MCF-7	breast:
3	chr7:127645347..127648256-chr7:127660834..127662429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128594	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55673039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.81[AFR][1000 genomes]
rs57683992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57866092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58368490	1.00[AMR][1000 genomes]
rs58659499	0.81[AFR][1000 genomes]
rs60776739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.81[AFR][1000 genomes]
rs60865612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	1.00[AMR][1000 genomes]
rs73721249	0.81[AFR][1000 genomes]
rs73721251	0.81[AFR][1000 genomes]
rs73721255	0.81[AFR][1000 genomes]
rs73721260	0.81[AFR][1000 genomes]
rs73721262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.81[AFR][1000 genomes]
rs73721267	0.81[AFR][1000 genomes]
rs73721268	0.87[AFR][1000 genomes]
rs73721270	0.87[AFR][1000 genomes]
rs73721274	0.87[AFR][1000 genomes]
rs73721275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721283	1.00[AMR][1000 genomes]
rs73721284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.90[AFR][1000 genomes]
rs73723070	1.00[AMR][1000 genomes]
rs73723071	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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
2	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
3	chr7:127644000-127668800	Weak transcription	Dnd41	blood
4	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:127645200-127661800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:127651800-127661600	Strong transcription	Fetal Intestine Small	intestine
11	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
12	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:127651800-127668800	Weak transcription	Ovary	ovary
15	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
17	chr7:127653400-127662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:127654800-127664200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:127656600-127662200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:127657000-127661600	Enhancers	Brain Angular Gyrus	brain
22	chr7:127657000-127661600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:127657000-127662000	Strong transcription	Primary T cells from cord blood	blood
24	chr7:127657000-127664600	Strong transcription	GM12878-XiMat	blood
25	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:127657200-127661600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:127657200-127661600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:127657200-127661800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:127657200-127663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:127657600-127661800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:127657600-127661800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:127657800-127661600	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:127657800-127663200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:127658000-127668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:127658200-127663000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:127658400-127666600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:127658600-127661800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:127658600-127662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:127658800-127661600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:127658800-127668800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
43	chr7:127659000-127661600	Strong transcription	Spleen	Spleen
44	chr7:127659000-127662600	Strong transcription	Primary B cells from cord blood	blood
45	chr7:127659000-127667400	Weak transcription	Fetal Kidney	kidney
46	chr7:127659200-127665800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:127659400-127661600	Strong transcription	Aorta	Aorta
48	chr7:127659400-127662800	Weak transcription	Esophagus	oesophagus
49	chr7:127659400-127664600	Weak transcription	Right Atrium	heart
50	chr7:127659600-127661600	Strong transcription	Fetal Stomach	stomach

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