Variant report

Variant	rs74060255
Chromosome Location	chr14:70121420-70121421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70121369..70123531-chr14:70123956..70126144,4	K562	blood:
2	chr14:70114857..70122560-chr14:70122603..70126754,12	MCF-7	breast:
3	chr14:70120608..70122664-chr14:70158495..70160028,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17107167	1.00[AFR][1000 genomes]
rs17107169	0.85[AFR][1000 genomes]
rs55634075	0.84[AFR][1000 genomes]
rs57153309	0.85[AFR][1000 genomes]
rs58291537	0.92[AFR][1000 genomes]
rs58658815	1.00[AFR][1000 genomes]
rs60146581	0.92[AFR][1000 genomes]
rs61389585	0.84[AFR][1000 genomes]
rs61606958	0.84[AFR][1000 genomes]
rs61710255	0.84[AFR][1000 genomes]
rs74060216	0.84[AFR][1000 genomes]
rs74060217	0.92[AFR][1000 genomes]
rs74060224	0.92[AFR][1000 genomes]
rs74060230	0.92[AFR][1000 genomes]
rs74060254	1.00[AFR][1000 genomes]
rs74060260	0.84[AFR][1000 genomes]
rs74060266	0.84[AFR][1000 genomes]
rs74060268	0.84[AFR][1000 genomes]
rs74060273	0.84[AFR][1000 genomes]
rs74060276	0.84[AFR][1000 genomes]
rs74060279	0.84[AFR][1000 genomes]
rs74060287	0.84[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
5	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:70114000-70121800	Enhancers	Psoas Muscle	Psoas
7	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
8	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
9	chr14:70115400-70121800	Enhancers	Right Atrium	heart
10	chr14:70116000-70125800	Enhancers	Pancreas	Pancrea
11	chr14:70116200-70121800	Enhancers	Liver	Liver
12	chr14:70116600-70122200	Enhancers	HepG2	liver
13	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:70117000-70121600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr14:70117800-70124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70117800-70127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:70118000-70124400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:70118000-70124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:70118000-70124600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:70118000-70126600	Weak transcription	Brain Angular Gyrus	brain
21	chr14:70118200-70124400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:70118200-70124400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70118200-70124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:70118200-70124600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:70118200-70124600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:70118400-70124600	Weak transcription	Aorta	Aorta
27	chr14:70118400-70124600	Weak transcription	HSMM	muscle
28	chr14:70118600-70124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:70118800-70123800	Enhancers	Lung	lung
30	chr14:70118800-70124400	Weak transcription	HSMMtube	muscle
31	chr14:70118800-70124800	Weak transcription	Fetal Lung	lung
32	chr14:70118800-70124800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:70119000-70124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:70119000-70124400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:70119600-70125200	Weak transcription	Primary T cells from cord blood	blood
37	chr14:70120000-70122400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:70120000-70124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:70120000-70124600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:70120000-70124800	Enhancers	Fetal Intestine Small	intestine
41	chr14:70120200-70121600	Enhancers	K562	blood
42	chr14:70120200-70121800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:70120200-70123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:70120200-70124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:70120200-70124400	Weak transcription	Fetal Stomach	stomach
46	chr14:70120200-70124400	Weak transcription	NH-A	brain
47	chr14:70120200-70124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:70120200-70124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:70120200-70124600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:70120200-70125000	Weak transcription	HUVEC	blood vessel

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