Variant report

Variant	rs10136727
Chromosome Location	chr14:31199109-31199110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10131166	0.80[ASN][1000 genomes]
rs10141944	0.80[ASN][1000 genomes]
rs11156637	0.85[ASN][1000 genomes]
rs1123860	0.80[ASN][1000 genomes]
rs11627421	0.88[ASN][1000 genomes]
rs11846293	0.82[ASN][1000 genomes]
rs11846408	0.84[ASN][1000 genomes]
rs12586678	0.84[ASN][1000 genomes]
rs17097023	0.81[ASN][1000 genomes]
rs2070340	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2378780	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28567474	0.88[EUR][1000 genomes]
rs35069045	0.89[ASN][1000 genomes]
rs4430662	0.84[ASN][1000 genomes]
rs61976741	0.99[ASN][1000 genomes]
rs7141333	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7493549	0.80[ASN][1000 genomes]
rs761956	0.99[ASN][1000 genomes]
rs8015536	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018993	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9322864	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 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	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
7	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
9	chr14:31162200-31199200	Strong transcription	HepG2	liver
10	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:31166000-31204200	Weak transcription	Colonic Mucosa	Colon
13	chr14:31166000-31205600	Weak transcription	Thymus	Thymus
14	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
15	chr14:31168200-31205800	Weak transcription	Esophagus	oesophagus
16	chr14:31168200-31206000	Weak transcription	Gastric	stomach
17	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:31171600-31205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:31173600-31199200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:31177600-31205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31179000-31207400	Weak transcription	Fetal Kidney	kidney
22	chr14:31179200-31205200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:31180000-31205400	Weak transcription	NHLF	lung
24	chr14:31181600-31207000	Weak transcription	Hela-S3	cervix
25	chr14:31184000-31199400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:31186000-31204000	Weak transcription	Brain Anterior Caudate	brain
27	chr14:31186400-31206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:31191000-31199400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:31191600-31199400	Strong transcription	Adipose Nuclei	Adipose
30	chr14:31192200-31199400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:31192200-31199400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:31192800-31204200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:31193000-31207200	Weak transcription	Brain Germinal Matrix	brain
34	chr14:31193000-31207800	Weak transcription	A549	lung
35	chr14:31193400-31199400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:31193600-31199400	Strong transcription	Primary B cells from cord blood	blood
37	chr14:31194400-31199400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:31194600-31199400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:31194600-31199600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:31194800-31199400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:31195000-31199200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:31195000-31199200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:31195000-31199200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr14:31195000-31199200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:31195000-31199200	Strong transcription	Osteobl	bone
46	chr14:31195000-31199400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:31195000-31199400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr14:31195000-31199400	Strong transcription	HSMM	muscle
49	chr14:31195200-31199400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:31195400-31199400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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