Variant report

Variant	rs16843490
Chromosome Location	chr4:2861996-2861997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2858420..2863571-chr4:2865919..2871146,8	K562	blood:
2	chr4:2844665..2847425-chr4:2860428..2864789,5	MCF-7	breast:
3	chr4:2860130..2862463-chr4:2876073..2878049,2	K562	blood:
4	chr4:2857762..2859404-chr4:2861452..2863344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370470	1.00[YRI][hapmap]
rs55676948	1.00[AMR][1000 genomes]
rs56315133	1.00[AMR][1000 genomes]
rs57551202	1.00[AMR][1000 genomes]
rs57960709	1.00[AMR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs60514033	1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs73792109	1.00[AMR][1000 genomes]
rs73792110	1.00[AMR][1000 genomes]
rs73792112	1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AMR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	1.00[AMR][1000 genomes]
rs7676937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7699427	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv524060	chr4:2850142-2881256	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2846600-2862400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:2846800-2862000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:2846800-2862600	Weak transcription	Esophagus	oesophagus
4	chr4:2847200-2862200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:2847400-2863600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:2852000-2865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:2854800-2862000	Weak transcription	NHEK	skin
8	chr4:2854800-2862800	Weak transcription	Gastric	stomach
9	chr4:2855000-2863000	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr4:2855000-2863400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:2855200-2862400	Genic enhancers	Primary B cells from cord blood	blood
12	chr4:2856200-2862400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:2856400-2862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:2856600-2862200	Enhancers	HepG2	liver
15	chr4:2856600-2862800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:2856800-2862600	Weak transcription	Thymus	Thymus
17	chr4:2856800-2863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:2857000-2877000	Weak transcription	Dnd41	blood
19	chr4:2857200-2867600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:2857400-2870000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:2857400-2877600	Weak transcription	HMEC	breast
22	chr4:2857600-2867400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:2857800-2862800	Weak transcription	Aorta	Aorta
24	chr4:2858200-2864800	Enhancers	Liver	Liver
25	chr4:2858400-2867200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:2858800-2865200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:2859000-2865200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:2859000-2865200	Enhancers	Fetal Muscle Leg	muscle
29	chr4:2859200-2862400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr4:2859200-2862800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:2859200-2863400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:2859200-2869400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:2859400-2865000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:2859400-2865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr4:2859400-2865400	Enhancers	HSMMtube	muscle
36	chr4:2859400-2865800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:2859400-2867200	Enhancers	Small Intestine	intestine
38	chr4:2859600-2862600	Weak transcription	Placenta	Placenta
39	chr4:2859600-2864800	Enhancers	HUVEC	blood vessel
40	chr4:2859600-2865600	Enhancers	Adipose Nuclei	Adipose
41	chr4:2859600-2866000	Enhancers	Duodenum Mucosa	Duodenum
42	chr4:2859800-2864000	Enhancers	NHDF-Ad	bronchial
43	chr4:2859800-2864800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:2859800-2865000	Enhancers	Osteobl	bone
45	chr4:2859800-2865400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:2859800-2865600	Enhancers	Fetal Heart	heart
47	chr4:2859800-2866600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:2860000-2862800	Enhancers	Brain Anterior Caudate	brain
49	chr4:2860000-2863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:2860000-2863800	Enhancers	GM12878-XiMat	blood

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