Variant report

Variant	rs2000707
Chromosome Location	chr18:43922645-43922646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11082523	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11661206	0.81[EUR][1000 genomes]
rs2008211	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890643	0.85[ASN][1000 genomes]
rs7232125	0.85[ASN][1000 genomes]
rs920781	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1796458	chr18:43913732-43923851	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1814236	chr18:43913834-43923851	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43916000-43924200	Weak transcription	Fetal Kidney	kidney
2	chr18:43916200-43929000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr18:43916600-43923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:43917000-43923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:43917000-43923600	Weak transcription	NHEK	skin
6	chr18:43917600-43923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr18:43918000-43923600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:43918400-43935800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:43918800-43923600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:43919000-43923200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:43919000-43923400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:43919000-43923600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:43919000-43923600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:43919000-43923600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr18:43919000-43923600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:43919000-43923600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:43919000-43935600	Weak transcription	Fetal Heart	heart
18	chr18:43919200-43923600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:43919200-43923600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:43919200-43923800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr18:43919200-43923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:43919600-43923400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:43919800-43926800	Enhancers	Spleen	Spleen
24	chr18:43920000-43923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:43920000-43924400	Weak transcription	Fetal Lung	lung
26	chr18:43920800-43923600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:43920800-43925400	Enhancers	Lung	lung
28	chr18:43921000-43923000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:43921000-43923000	Weak transcription	Brain Germinal Matrix	brain
30	chr18:43921000-43923200	Weak transcription	Dnd41	blood
31	chr18:43921000-43923400	Weak transcription	Psoas Muscle	Psoas
32	chr18:43921000-43923600	Weak transcription	Esophagus	oesophagus
33	chr18:43921000-43923600	Weak transcription	Right Atrium	heart
34	chr18:43921000-43925200	Weak transcription	Fetal Intestine Small	intestine
35	chr18:43921200-43923800	Strong transcription	Hela-S3	cervix
36	chr18:43921400-43923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:43921400-43925200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr18:43921600-43923400	Weak transcription	GM12878-XiMat	blood
39	chr18:43921800-43922800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr18:43921800-43923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:43921800-43924000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:43921800-43925800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr18:43922000-43923000	Enhancers	Primary B cells from cord blood	blood
44	chr18:43922000-43923000	Weak transcription	Fetal Brain Female	brain
45	chr18:43922000-43923000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr18:43922000-43923400	Strong transcription	Fetal Muscle Leg	muscle
47	chr18:43922200-43922800	Enhancers	Adipose Nuclei	Adipose
48	chr18:43922200-43923400	Enhancers	Liver	Liver
49	chr18:43922200-43923600	Strong transcription	Fetal Stomach	stomach
50	chr18:43922200-43925200	Enhancers	Left Ventricle	heart

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