Variant report

Variant	rs8006412
Chromosome Location	chr14:39798588-39798589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10142118	0.81[AMR][1000 genomes]
rs10148678	0.81[AMR][1000 genomes]
rs2117338	0.81[AMR][1000 genomes]
rs7159584	0.81[AMR][1000 genomes]
rs8012235	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:39759400-39801800	Weak transcription	NHLF	lung
7	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
8	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
16	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
17	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
21	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
22	chr14:39773200-39802400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:39773400-39801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:39779000-39801400	Weak transcription	Fetal Thymus	thymus
25	chr14:39780000-39801000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:39785200-39798800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr14:39785600-39802000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:39786400-39801400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:39786400-39801600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:39786600-39801000	Weak transcription	Ovary	ovary
32	chr14:39786600-39801200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:39786600-39801600	Weak transcription	Aorta	Aorta
34	chr14:39786600-39801600	Weak transcription	Esophagus	oesophagus
35	chr14:39786600-39801600	Weak transcription	Gastric	stomach
36	chr14:39786600-39801600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
38	chr14:39786800-39800600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:39786800-39800800	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:39786800-39801600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:39786800-39801600	Weak transcription	Psoas Muscle	Psoas
42	chr14:39786800-39802400	Weak transcription	Pancreas	Pancrea
43	chr14:39786800-39808000	Weak transcription	K562	blood
44	chr14:39786800-39823000	Strong transcription	Liver	Liver
45	chr14:39788200-39801800	Weak transcription	NHEK	skin
46	chr14:39788800-39801400	Weak transcription	NH-A	brain
47	chr14:39789400-39809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:39790400-39801800	Weak transcription	HSMM	muscle
49	chr14:39791600-39801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:39791600-39804800	Weak transcription	Fetal Brain Female	brain

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