Variant report

Variant	rs4897126
Chromosome Location	chr6:149804146-149804147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2179368	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789504	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4895791	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4897127	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4897126	RP11-350J20.5	cis	Artery Tibial	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149789400-149806000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:149800000-149806000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:149800400-149805800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:149801000-149804400	Flanking Active TSS	GM12878-XiMat	blood
5	chr6:149801200-149807000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr6:149801400-149805600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr6:149801600-149804200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:149801600-149807200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:149802000-149804200	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:149802000-149804400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:149802000-149805600	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr6:149802200-149805600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:149802200-149806800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:149802400-149805000	Weak transcription	Small Intestine	intestine
15	chr6:149802600-149804200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr6:149802600-149804400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:149802800-149804200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr6:149802800-149804400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:149802800-149804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:149802800-149804400	Flanking Active TSS	Thymus	Thymus
21	chr6:149802800-149804600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr6:149802800-149804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:149802800-149805600	Enhancers	Fetal Lung	lung
24	chr6:149802800-149806400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:149802800-149806800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:149803000-149804400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:149803000-149804600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:149803200-149804400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:149803200-149805800	Weak transcription	Lung	lung
30	chr6:149803400-149804200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr6:149803400-149804200	Genic enhancers	Fetal Intestine Small	intestine
32	chr6:149803400-149804200	Enhancers	Placenta	Placenta
33	chr6:149803400-149804400	Enhancers	Fetal Stomach	stomach
34	chr6:149803400-149805200	Enhancers	HepG2	liver
35	chr6:149803600-149804200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr6:149803600-149804200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr6:149803600-149805400	Enhancers	Fetal Intestine Large	intestine
38	chr6:149803600-149805800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:149803600-149805800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:149803600-149805800	Weak transcription	Esophagus	oesophagus
41	chr6:149803600-149805800	Weak transcription	Psoas Muscle	Psoas
42	chr6:149803600-149805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:149803600-149805800	Weak transcription	NHDF-Ad	bronchial
44	chr6:149803600-149806000	Weak transcription	NH-A	brain
45	chr6:149803800-149804200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:149803800-149804200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:149803800-149804400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:149803800-149804400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr6:149803800-149804400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr6:149803800-149804400	Enhancers	Skeletal Muscle Male	skeletal muscle

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