Variant report

Variant	rs666604
Chromosome Location	chr1:67217587-67217588
allele	A/C
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	MAX	chr1:67217585-67218316	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr1:67217534-67218417	H1-hESC	embryonic stem cell:	n/a	chr1:67217885-67217892 chr1:67217885-67217892 chr1:67217885-67217892
3	TEAD4	chr1:67217553-67217953	H1-hESC	embryonic stem cell:	n/a	chr1:67217737-67217746
4	POLR2A	chr1:67217492-67218275	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:67217543-67218474	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:67217570-67218352	HUVEC	blood vessel:	n/a	n/a
7	E2F6	chr1:67217383-67218567	H1-hESC	embryonic stem cell:	n/a	chr1:67217885-67217892 chr1:67217885-67217892 chr1:67217885-67217892
8	TEAD4	chr1:67217514-67218232	H1-hESC	embryonic stem cell:	n/a	chr1:67217737-67217746
9	MAX	chr1:67217568-67218404	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr1:67217507-67218346	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
TCTEX1D1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11208936	0.84[AFR][1000 genomes]
rs1315998	0.91[AFR][1000 genomes]
rs502376	0.92[AFR][1000 genomes]
rs665379	0.82[AFR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
6	chr1:67212800-67217600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:67213200-67217600	Enhancers	HUVEC	blood vessel
8	chr1:67213600-67217600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:67213800-67217600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:67213800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:67215600-67217600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:67215800-67217600	Weak transcription	NHDF-Ad	bronchial
13	chr1:67216000-67217600	Weak transcription	Osteobl	bone
14	chr1:67217200-67217600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:67217200-67217600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:67217200-67217600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:67217200-67217600	Enhancers	Placenta	Placenta
18	chr1:67217200-67217600	Weak transcription	NHLF	lung
19	chr1:67217200-67217800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:67217200-67217800	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr1:67217200-67217800	Bivalent Enhancer	Fetal Thymus	thymus
22	chr1:67217200-67217800	Enhancers	Left Ventricle	heart
23	chr1:67217200-67218000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr1:67217200-67218000	Enhancers	Lung	lung
25	chr1:67217200-67218400	Active TSS	Brain Angular Gyrus	brain
26	chr1:67217200-67218600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:67217200-67218800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:67217200-67219000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:67217200-67219200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr1:67217200-67220400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:67217200-67220800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:67217400-67217600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
33	chr1:67217400-67217600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:67217400-67217600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr1:67217400-67217600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr1:67217400-67217600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr1:67217400-67217600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr1:67217400-67217600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:67217400-67217600	Enhancers	Adipose Nuclei	Adipose
40	chr1:67217400-67217600	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:67217400-67217600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:67217400-67217600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr1:67217400-67217600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:67217400-67217800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr1:67217400-67217800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:67217400-67217800	Enhancers	Liver	Liver
47	chr1:67217400-67217800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr1:67217400-67217800	Bivalent Enhancer	Thymus	Thymus
49	chr1:67217400-67218000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:67217400-67218600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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