Variant report

Variant	rs61990936
Chromosome Location	chr14:67718100-67718101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67707341..67709736-chr14:67717004..67719611,3	K562	blood:
2	chr14:67717311..67719778-chr14:67825828..67828686,2	K562	blood:
3	chr14:67717953..67720005-chr14:67723957..67726126,2	K562	blood:
4	chr14:67705323..67710204-chr14:67712445..67718210,9	MCF-7	breast:
5	chr14:67717694..67719444-chr14:67723330..67725776,2	MCF-7	breast:
6	chr14:67707341..67711028-chr14:67715003..67718504,4	K562	blood:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41301475	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374089	1.00[ASN][1000 genomes]
rs61988180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61990909	1.00[ASN][1000 genomes]
rs61990916	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61990920	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990925	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990939	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8012697	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67708800-67730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67709400-67730000	Weak transcription	Fetal Stomach	stomach
4	chr14:67709600-67719200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:67709600-67720200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:67709800-67718200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:67709800-67718200	Weak transcription	Brain Angular Gyrus	brain
8	chr14:67709800-67719200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
11	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:67710200-67728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
14	chr14:67712200-67718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:67713400-67719200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:67713600-67719000	Weak transcription	Psoas Muscle	Psoas
18	chr14:67714400-67718400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:67714400-67719800	Weak transcription	NHDF-Ad	bronchial
20	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:67714600-67718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:67714600-67718600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:67714600-67718600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:67714600-67721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:67714600-67723600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:67714800-67718600	Weak transcription	HSMMtube	muscle
27	chr14:67714800-67729200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:67714800-67729800	Weak transcription	HUVEC	blood vessel
29	chr14:67715000-67718200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:67715000-67718200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:67715000-67718200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:67715000-67718200	Weak transcription	A549	lung
33	chr14:67715000-67730200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:67715200-67719000	Weak transcription	NHLF	lung
35	chr14:67715400-67719200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:67715400-67719800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:67716000-67719000	Weak transcription	Ovary	ovary
38	chr14:67716000-67719800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:67716000-67721600	Enhancers	Fetal Heart	heart
40	chr14:67716400-67720000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:67716400-67720000	Enhancers	Brain Substantia Nigra	brain
42	chr14:67716600-67718400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:67716600-67720600	Enhancers	Brain Hippocampus Middle	brain
44	chr14:67716800-67718400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:67716800-67719200	Weak transcription	GM12878-XiMat	blood
46	chr14:67716800-67720000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:67716800-67721000	Weak transcription	Fetal Kidney	kidney
48	chr14:67717200-67719200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:67717400-67718800	Enhancers	NHEK	skin
50	chr14:67717400-67721200	Weak transcription	HSMM	muscle

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