Variant report

Variant	rs10140530
Chromosome Location	chr14:31165793-31165794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31158569..31160575-chr14:31165651..31167745,2	MCF-7	breast:
2	chr14:31164973..31167877-chr14:31174409..31177773,3	K562	blood:
3	chr14:31091385..31092955-chr14:31164173..31166780,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	1.00[AMR][1000 genomes]
rs10135741	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141104	1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10142125	1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	1.00[AMR][1000 genomes]
rs10152074	1.00[AMR][1000 genomes]
rs10220596	1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	1.00[AMR][1000 genomes]
rs28495989	1.00[AMR][1000 genomes]
rs28542156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649328	1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	1.00[AMR][1000 genomes]
rs28860821	1.00[AMR][1000 genomes]
rs2889991	1.00[AMR][1000 genomes]
rs56250330	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs74041103	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041117	1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010048	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8012029	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs8014497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019014	0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[AMR][1000 genomes]
rs9944142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31096000-31167400	Weak transcription	Gastric	stomach
2	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
3	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
5	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
10	chr14:31134200-31167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:31141600-31167400	Weak transcription	Psoas Muscle	Psoas
12	chr14:31150000-31166800	Weak transcription	Fetal Lung	lung
13	chr14:31152800-31165800	Weak transcription	NHLF	lung
14	chr14:31153400-31169000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:31153600-31166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:31153600-31166600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:31153600-31166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:31153600-31167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:31153600-31174400	Weak transcription	NHDF-Ad	bronchial
20	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:31153800-31166200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:31153800-31166400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
24	chr14:31160000-31167400	Weak transcription	Esophagus	oesophagus
25	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
27	chr14:31160200-31172800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:31160200-31176000	Strong transcription	HSMM	muscle
29	chr14:31160200-31178800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:31160400-31167600	Weak transcription	Fetal Stomach	stomach
31	chr14:31160400-31168200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:31160600-31166800	Weak transcription	HMEC	breast
34	chr14:31160600-31166800	Weak transcription	NHEK	skin
35	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:31160800-31167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
40	chr14:31161000-31167200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:31161000-31178600	Weak transcription	Stomach Mucosa	stomach
42	chr14:31161000-31180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:31162000-31181000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:31162200-31165800	Weak transcription	Fetal Kidney	kidney
50	chr14:31162200-31192000	Weak transcription	A549	lung

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