Variant report

Variant	rs55994018
Chromosome Location	chr6:145105990-145105991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57539304	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57946365	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58299443	1.00[EUR][1000 genomes]
rs58887858	1.00[EUR][1000 genomes]
rs59427278	0.89[AFR][1000 genomes]
rs59989498	1.00[EUR][1000 genomes]
rs6915534	1.00[EUR][1000 genomes]
rs73591939	1.00[EUR][1000 genomes]
rs73591971	1.00[EUR][1000 genomes]
rs73594582	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73594595	1.00[EUR][1000 genomes]
rs73595585	1.00[EUR][1000 genomes]
rs73596513	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73596541	0.89[AFR][1000 genomes]
rs73596548	0.89[AFR][1000 genomes]
rs73599519	1.00[EUR][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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886740	chr6:145105354-145199259	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145040000-145114600	Weak transcription	NHLF	lung
2	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
3	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
4	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
6	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:145075000-145108800	Strong transcription	Primary B cells from cord blood	blood
9	chr6:145080000-145115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
11	chr6:145085400-145119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:145085800-145134800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:145086800-145115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:145087400-145115000	Weak transcription	Gastric	stomach
15	chr6:145089600-145138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:145090000-145136800	Weak transcription	Fetal Heart	heart
17	chr6:145090400-145115000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:145090800-145115400	Weak transcription	Fetal Brain Male	brain
19	chr6:145091000-145107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:145091000-145107800	Weak transcription	Ovary	ovary
21	chr6:145091000-145114400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:145091000-145114400	Weak transcription	NHDF-Ad	bronchial
23	chr6:145091000-145115000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:145091000-145115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:145091000-145145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:145091200-145117200	Weak transcription	Psoas Muscle	Psoas
27	chr6:145093400-145119800	Weak transcription	Fetal Intestine Small	intestine
28	chr6:145093800-145114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:145094400-145136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:145095000-145114800	Weak transcription	Placenta	Placenta
31	chr6:145095000-145119000	Weak transcription	NH-A	brain
32	chr6:145095200-145115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:145095200-145118800	Weak transcription	GM12878-XiMat	blood
34	chr6:145096000-145118600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:145096800-145114600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:145096800-145114800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:145096800-145118600	Weak transcription	HUVEC	blood vessel
38	chr6:145097200-145114600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:145097400-145115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:145097600-145108000	Weak transcription	Fetal Kidney	kidney
41	chr6:145097600-145114800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:145097800-145107600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:145097800-145114400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:145097800-145114400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:145097800-145114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:145097800-145114800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:145097800-145115000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:145097800-145115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:145097800-145115000	Weak transcription	Fetal Stomach	stomach
50	chr6:145097800-145115000	Weak transcription	Thymus	Thymus

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