Variant report

Variant	rs74085211
Chromosome Location	chr14:104056462-104056463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104056281..104057998-chr14:104062003..104064043,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55967910	0.96[AFR][1000 genomes]
rs58810431	1.00[AFR][1000 genomes]
rs74085203	1.00[AFR][1000 genomes]
rs74085205	1.00[AFR][1000 genomes]
rs74088027	0.96[AFR][1000 genomes]
rs74088030	0.96[AFR][1000 genomes]
rs74088034	0.96[AFR][1000 genomes]
rs74088040	0.96[AFR][1000 genomes]
rs74088041	0.96[AFR][1000 genomes]
rs74088043	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
2	chr14:104035400-104060400	Weak transcription	Fetal Brain Male	brain
3	chr14:104041000-104059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:104041000-104063200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104041800-104059600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:104041800-104060600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104042200-104057200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:104043400-104056600	Weak transcription	Fetal Heart	heart
9	chr14:104043800-104058200	Strong transcription	Fetal Stomach	stomach
10	chr14:104043800-104059600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:104043800-104060200	Weak transcription	Stomach Mucosa	stomach
12	chr14:104044000-104056600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:104045200-104059600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:104045600-104057200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:104045600-104057200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:104045600-104059400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:104045600-104060000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:104045600-104060000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:104045600-104060000	Weak transcription	Fetal Kidney	kidney
20	chr14:104045600-104060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:104045600-104060600	Weak transcription	NHDF-Ad	bronchial
22	chr14:104045600-104067200	Weak transcription	Primary B cells from cord blood	blood
23	chr14:104045800-104059800	Weak transcription	HUVEC	blood vessel
24	chr14:104045800-104060400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:104045800-104064200	Weak transcription	Hela-S3	cervix
26	chr14:104046400-104059400	Weak transcription	GM12878-XiMat	blood
27	chr14:104048200-104059800	Weak transcription	NH-A	brain
28	chr14:104048400-104059600	Weak transcription	Right Ventricle	heart
29	chr14:104048400-104060000	Weak transcription	Brain Substantia Nigra	brain
30	chr14:104048400-104060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:104049000-104056600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:104049000-104060600	Weak transcription	Colonic Mucosa	Colon
33	chr14:104049000-104060600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:104049600-104059400	Weak transcription	HMEC	breast
35	chr14:104049600-104059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:104050200-104060000	Weak transcription	NHEK	skin
37	chr14:104050600-104060400	Weak transcription	HSMMtube	muscle
38	chr14:104051200-104060200	Weak transcription	HepG2	liver
39	chr14:104051200-104060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:104053000-104057800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:104053400-104057600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:104053400-104057800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:104053400-104057800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr14:104053800-104058200	Strong transcription	Fetal Intestine Small	intestine
45	chr14:104054200-104057200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:104054200-104057400	Strong transcription	Thymus	Thymus
47	chr14:104054200-104057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:104054200-104057800	Strong transcription	Fetal Intestine Large	intestine
49	chr14:104054200-104058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:104054200-104058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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