Variant report

Variant	rs2819420
Chromosome Location	chr14:105406574-105406575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105405873..105407482-chr14:105449150..105451992,2	MCF-7	breast:
2	chr14:105361378..105363215-chr14:105404898..105407552,2	K562	blood:
3	chr14:105402513..105405385-chr14:105405558..105407496,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1982230	1.00[YRI][hapmap]
rs2083543	1.00[YRI][hapmap]
rs2582500	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2582518	1.00[YRI][hapmap]
rs2582541	1.00[YRI][hapmap]
rs2819445	1.00[YRI][hapmap]
rs2819461	1.00[AFR][1000 genomes]
rs2841234	1.00[YRI][hapmap]
rs3000769	1.00[AFR][1000 genomes]
rs894026	1.00[AFR][1000 genomes]
rs894027	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv11876	chr14:105400671-105419692	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
15	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
16	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399600-105406800	Weak transcription	Spleen	Spleen
2	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
3	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
6	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
10	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:105403400-105407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:105403400-105407800	Weak transcription	Gastric	stomach
13	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:105403600-105408800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
16	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:105404200-105410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:105404400-105408400	Strong transcription	A549	lung
20	chr14:105404400-105412800	Strong transcription	Fetal Stomach	stomach
21	chr14:105404800-105408600	Strong transcription	Colon Smooth Muscle	Colon
22	chr14:105405000-105413400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:105405200-105409400	Strong transcription	NHEK	skin
24	chr14:105405400-105407400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:105405400-105409000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr14:105405400-105412000	Strong transcription	Esophagus	oesophagus
27	chr14:105405600-105406600	Weak transcription	HSMMtube	muscle
28	chr14:105405600-105407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:105405600-105408800	Strong transcription	NHDF-Ad	bronchial
30	chr14:105405800-105406600	Enhancers	Brain Substantia Nigra	brain
31	chr14:105405800-105406800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:105405800-105407600	Strong transcription	HMEC	breast
33	chr14:105406000-105406800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:105406400-105406600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:105406400-105406600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:105406400-105406800	Enhancers	Pancreas	Pancrea
37	chr14:105406400-105406800	Strong transcription	NHLF	lung
38	chr14:105406400-105408000	Strong transcription	HSMM	muscle
39	chr14:105406400-105408200	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links