Variant report

Variant	rs1200409
Chromosome Location	chr14:35322320-35322321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35320652..35322696-chr14:35343086..35346317,3	K562	blood:
2	chr14:35314371..35315895-chr14:35321905..35324851,2	MCF-7	breast:
3	chr14:35320652..35322696-chr14:35343086..35344826,2	K562	blood:
4	chr14:35318271..35322990-chr14:35341179..35344684,6	MCF-7	breast:
5	chr14:35319782..35323023-chr14:35340158..35345901,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000251726	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1200403	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17510813	1.00[CHB][hapmap]
rs1959150	1.00[YRI][hapmap]
rs1959151	1.00[YRI][hapmap]
rs799467	0.90[GIH][hapmap]
rs799477	1.00[GIH][hapmap]
rs799688	0.85[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs810193	1.00[GIH][hapmap]

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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
3	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
5	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
7	chr14:35282600-35323400	Weak transcription	Lung	lung
8	chr14:35292600-35322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:35292600-35322800	Weak transcription	Thymus	Thymus
10	chr14:35295000-35322800	Weak transcription	Fetal Intestine Small	intestine
11	chr14:35295200-35327000	Weak transcription	Spleen	Spleen
12	chr14:35304000-35326600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:35307000-35333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:35312200-35336200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:35312400-35326400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:35312600-35325800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:35312600-35328600	Weak transcription	Fetal Kidney	kidney
18	chr14:35312600-35335200	Weak transcription	Right Ventricle	heart
19	chr14:35312800-35322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:35312800-35322400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:35312800-35323000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:35312800-35324400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:35312800-35325200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:35312800-35326200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:35312800-35328000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:35312800-35328200	Weak transcription	Stomach Mucosa	stomach
27	chr14:35312800-35330600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:35312800-35331600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:35312800-35336600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:35312800-35341400	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
33	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
34	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
35	chr14:35313000-35325200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:35313000-35325200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:35313000-35325400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:35313000-35325400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:35313000-35330800	Weak transcription	Adipose Nuclei	Adipose
40	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
41	chr14:35314600-35325400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:35314800-35324800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:35315600-35326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:35316400-35326800	Weak transcription	Aorta	Aorta
45	chr14:35317800-35323200	Strong transcription	GM12878-XiMat	blood
46	chr14:35317800-35323400	Strong transcription	Primary T cells from cord blood	blood
47	chr14:35318000-35325000	Strong transcription	Fetal Thymus	thymus
48	chr14:35318000-35326600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:35318200-35325400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:35318200-35326600	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links