Variant report

Variant	rs16843682
Chromosome Location	chr4:2959712-2959713
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2936900..2939416-chr4:2956780..2960043,4	K562	blood:
2	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:

Variant related genes	Relation type
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 48 )
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]
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]
rs61747144	1.00[AFR][1000 genomes];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:8 , 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
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
6	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
8	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:2939000-2960200	Strong transcription	Lung	lung
13	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
14	chr4:2939200-2960000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
18	chr4:2939400-2959800	Strong transcription	Fetal Muscle Leg	muscle
19	chr4:2939400-2960000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:2939400-2960400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr4:2939400-2960400	Strong transcription	NHLF	lung
22	chr4:2939400-2960600	Strong transcription	Brain Hippocampus Middle	brain
23	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:2939600-2960000	Strong transcription	Spleen	Spleen
25	chr4:2939600-2960800	Strong transcription	Fetal Brain Female	brain
26	chr4:2939600-2961400	Strong transcription	Dnd41	blood
27	chr4:2939600-2961600	Strong transcription	Fetal Thymus	thymus
28	chr4:2939800-2960600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr4:2939800-2960600	Strong transcription	HepG2	liver
30	chr4:2940000-2960000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:2940000-2960400	Strong transcription	NHEK	skin
32	chr4:2940000-2962200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr4:2940600-2959800	Strong transcription	Rectal Smooth Muscle	rectum
34	chr4:2941400-2960000	Strong transcription	Brain Angular Gyrus	brain
35	chr4:2941600-2960400	Strong transcription	HMEC	breast
36	chr4:2942600-2960400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:2945200-2960600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:2945400-2960600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr4:2945400-2961600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:2947200-2960600	Strong transcription	Thymus	Thymus
41	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
42	chr4:2949000-2961600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:2951000-2960000	Strong transcription	Esophagus	oesophagus
44	chr4:2951800-2960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:2953200-2960000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:2954000-2960200	Strong transcription	Psoas Muscle	Psoas
48	chr4:2954400-2962400	Strong transcription	A549	lung
49	chr4:2954800-2960800	Strong transcription	Hela-S3	cervix
50	chr4:2955200-2959800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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