Variant report

Variant	rs6692011
Chromosome Location	chr1:213174934-213174935
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:213174544-213176793	K562	blood:	n/a	n/a
2	RFX5	chr1:213174663-213174989	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ANGEL2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157273	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120082	0.85[YRI][hapmap]
rs11810428	1.00[EUR][1000 genomes]
rs41277158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540771	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6540772	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[EUR][1000 genomes]
rs6540775	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes]
rs6688043	1.00[GIH][hapmap];0.80[EUR][1000 genomes]
rs6694156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6697921	0.85[YRI][hapmap]
rs7516436	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520067	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525940	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
7	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
8	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:213155600-213178400	Weak transcription	Gastric	stomach
10	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
11	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
12	chr1:213156000-213176800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:213156000-213177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain
15	chr1:213156200-213188000	Weak transcription	Pancreas	Pancrea
16	chr1:213156600-213176600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:213157200-213178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:213158400-213188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:213160200-213188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:213160400-213187200	Weak transcription	NHLF	lung
21	chr1:213162000-213184600	Weak transcription	Psoas Muscle	Psoas
22	chr1:213162200-213188000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:213162800-213181200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:213162800-213183000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:213163200-213187400	Weak transcription	Stomach Mucosa	stomach
26	chr1:213165400-213181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:213165600-213176000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:213166000-213176200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:213166000-213177000	Weak transcription	HMEC	breast
30	chr1:213166000-213182200	Strong transcription	Fetal Intestine Large	intestine
31	chr1:213166000-213184200	Weak transcription	HepG2	liver
32	chr1:213167000-213181000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:213167600-213182600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:213167800-213187000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:213167800-213187000	Weak transcription	Fetal Heart	heart
36	chr1:213167800-213187800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:213168200-213181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:213168600-213183000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:213169000-213182600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:213169000-213186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:213169000-213187200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:213169000-213187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:213169800-213186400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:213170000-213175600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:213170000-213188000	Weak transcription	Colonic Mucosa	Colon
46	chr1:213170400-213176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:213170600-213175400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:213170600-213175600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:213170600-213175800	Weak transcription	Ovary	ovary
50	chr1:213170600-213176400	Weak transcription	GM12878-XiMat	blood

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