Variant report

Variant	rs61747144
Chromosome Location	chr4:2954057-2954058
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2945633..2949809-chr4:2953795..2956379,3	K562	blood:
2	chr4:2936249..2938148-chr4:2953857..2955421,2	K562	blood:
3	chr4:2950061..2952154-chr4:2953214..2955899,2	K562	blood:

Variant related genes	Relation type
ENSG00000109736	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909241	0.88[AFR][1000 genomes]
rs56204916	0.88[AFR][1000 genomes]
rs56315133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57481838	0.83[AFR][1000 genomes]
rs57551202	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112051	0.88[AFR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs58479563	0.88[AFR][1000 genomes]
rs58555511	0.88[AFR][1000 genomes]
rs58936143	0.88[AFR][1000 genomes]
rs60480235	0.88[AFR][1000 genomes]
rs60514033	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61377156	0.88[AFR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs6837197	0.88[AFR][1000 genomes]
rs6840149	0.88[AFR][1000 genomes]
rs6852880	0.88[AFR][1000 genomes]
rs73792109	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792122	0.88[AFR][1000 genomes]
rs73792188	0.83[AFR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2938000-2960400	Weak transcription	Right Atrium	heart
2	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2938400-2957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:2938400-2959600	Strong transcription	Brain Anterior Caudate	brain
5	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
8	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
10	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:2938800-2955600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:2938800-2956800	Strong transcription	Fetal Intestine Large	intestine
13	chr4:2938800-2959200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:2939000-2956800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr4:2939000-2956800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:2939000-2957400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:2939000-2958400	Strong transcription	Brain Substantia Nigra	brain
21	chr4:2939000-2960200	Strong transcription	Lung	lung
22	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
23	chr4:2939200-2956200	Strong transcription	Left Ventricle	heart
24	chr4:2939200-2959200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:2939200-2959600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:2939200-2960000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
30	chr4:2939400-2956800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:2939400-2957200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:2939400-2959000	Strong transcription	Ovary	ovary
33	chr4:2939400-2959400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:2939400-2959600	Strong transcription	Adipose Nuclei	Adipose
35	chr4:2939400-2959600	Strong transcription	HUVEC	blood vessel
36	chr4:2939400-2959800	Strong transcription	Fetal Muscle Leg	muscle
37	chr4:2939400-2960000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:2939400-2960400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr4:2939400-2960400	Strong transcription	NHLF	lung
40	chr4:2939400-2960600	Strong transcription	Brain Hippocampus Middle	brain
41	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:2939600-2956400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:2939600-2956600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:2939600-2956600	Strong transcription	K562	blood
45	chr4:2939600-2957200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:2939600-2957400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:2939600-2957800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:2939600-2959200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr4:2939600-2959400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:2939600-2959400	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links