Variant report

Variant	rs73281540
Chromosome Location	chr14:70123150-70123151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70123094-70123856	K562	blood:	n/a	n/a
2	POLR2A	chr14:70123039-70123166	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70121369..70123531-chr14:70123956..70126144,4	K562	blood:
2	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
3	chr14:70110578..70113027-chr14:70121882..70124631,2	K562	blood:

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61649298	1.00[AMR][1000 genomes]
rs73281441	1.00[AMR][1000 genomes]
rs73281534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281557	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010208	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	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	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
4	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
6	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
7	chr14:70116000-70125800	Enhancers	Pancreas	Pancrea
8	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:70117800-70124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70117800-70127800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:70118000-70124400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:70118000-70124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:70118000-70124600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:70118000-70126600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:70118200-70124400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:70118200-70124400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70118200-70124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:70118200-70124600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:70118200-70124600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:70118400-70124600	Weak transcription	Aorta	Aorta
21	chr14:70118400-70124600	Weak transcription	HSMM	muscle
22	chr14:70118600-70124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:70118800-70123800	Enhancers	Lung	lung
24	chr14:70118800-70124400	Weak transcription	HSMMtube	muscle
25	chr14:70118800-70124800	Weak transcription	Fetal Lung	lung
26	chr14:70118800-70124800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:70119000-70124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:70119000-70124400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:70119000-70129200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:70119600-70125200	Weak transcription	Primary T cells from cord blood	blood
31	chr14:70120000-70124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:70120000-70124600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:70120000-70124800	Enhancers	Fetal Intestine Small	intestine
34	chr14:70120200-70124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:70120200-70124400	Weak transcription	Fetal Stomach	stomach
36	chr14:70120200-70124400	Weak transcription	NH-A	brain
37	chr14:70120200-70124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:70120200-70124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:70120200-70124600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr14:70120200-70125000	Weak transcription	HUVEC	blood vessel
41	chr14:70120200-70126000	Weak transcription	NHLF	lung
42	chr14:70120400-70124400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:70120400-70124400	Weak transcription	Fetal Heart	heart
44	chr14:70120400-70124400	Weak transcription	Osteobl	bone
45	chr14:70120400-70124600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:70120400-70124600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:70120800-70123600	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:70120800-70129200	Weak transcription	Fetal Kidney	kidney
49	chr14:70121000-70124400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:70121000-70124600	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links