Variant report

Variant	rs11623288
Chromosome Location	chr14:97207994-97207995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10146854	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12895746	0.80[ASN][1000 genomes]
rs28670537	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2887581	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4243716	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs71415050	0.80[ASN][1000 genomes]
rs8015493	0.80[ASN][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	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv85164	chr14:97207464-97209699	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97206200-97208800	Enhancers	Fetal Brain Male	brain
2	chr14:97206800-97208400	Bivalent/Poised TSS	HSMM	muscle
3	chr14:97207400-97208000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:97207400-97208000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:97207400-97208000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:97207400-97208000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
7	chr14:97207400-97208000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr14:97207400-97208000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr14:97207400-97208000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:97207400-97208000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:97207400-97208000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:97207400-97208000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr14:97207400-97208000	Bivalent/Poised TSS	Hela-S3	cervix
14	chr14:97207400-97208000	Bivalent/Poised TSS	HUVEC	blood vessel
15	chr14:97207400-97208000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr14:97207400-97208000	Bivalent/Poised TSS	NHEK	skin
17	chr14:97207400-97208000	Active TSS	NHLF	lung
18	chr14:97207400-97208200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:97207400-97208200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:97207400-97208200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:97207400-97208200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:97207400-97208200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:97207400-97208200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:97207400-97208200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:97207400-97208200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr14:97207400-97208200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr14:97207400-97208200	Bivalent/Poised TSS	A549	lung
28	chr14:97207400-97208200	Bivalent/Poised TSS	Osteobl	bone
29	chr14:97207400-97208400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:97207400-97208400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:97207400-97208400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:97207400-97208400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:97207400-97208400	Active TSS	Brain Anterior Caudate	brain
34	chr14:97207400-97208600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr14:97207400-97208600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:97207400-97208800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr14:97207600-97208000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:97207600-97208000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:97207600-97208000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr14:97207600-97208000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:97207600-97208000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr14:97207600-97208000	Flanking Active TSS	Liver	Liver
48	chr14:97207600-97208000	Active TSS	Colonic Mucosa	Colon
49	chr14:97207600-97208000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr14:97207600-97208000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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