Variant report

Variant	rs550081908
Chromosome Location	chr1:79472779-79472780
allele	A/G
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	chr1:79472048-79472813	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:79471509-79472918	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr1:79472161-79473325	HUVEC	blood vessel:	n/a	chr1:79472502-79472513
4	POLR2A	chr1:79471677-79472855	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:79471586-79472784	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:79471713-79472837	HUVEC	blood vessel:	n/a	n/a
7	RFX5	chr1:79472143-79472966	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ELTD1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470720	chr1:79411764-79491206	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv870769	chr1:79420491-79491206	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv871645	chr1:79431407-79501129	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv462139	chr1:79471959-79519427	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv546629	chr1:79471959-79519427	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79468800-79472800	Active TSS	Right Atrium	heart
2	chr1:79469200-79472800	Active TSS	Psoas Muscle	Psoas
3	chr1:79470200-79472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:79471000-79472800	Active TSS	NH-A	brain
5	chr1:79471200-79472800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:79471600-79472800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:79471600-79472800	Active TSS	NHDF-Ad	bronchial
8	chr1:79471600-79473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:79471600-79473000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:79471800-79472800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:79471800-79472800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:79471800-79472800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:79471800-79472800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:79471800-79472800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:79471800-79472800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:79471800-79472800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:79471800-79472800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr1:79471800-79472800	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:79471800-79472800	Active TSS	Fetal Stomach	stomach
20	chr1:79471800-79472800	Active TSS	HSMM	muscle
21	chr1:79471800-79473000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:79471800-79473000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:79471800-79473000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:79471800-79473000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:79471800-79473000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:79471800-79473200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:79472000-79472800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:79472000-79472800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:79472000-79472800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:79472000-79473000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:79472200-79472800	Active TSS	Brain Germinal Matrix	brain
32	chr1:79472200-79472800	ZNF genes & repeats	Lung	lung
33	chr1:79472400-79472800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:79472400-79472800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:79472400-79472800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:79472400-79472800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr1:79472400-79472800	Active TSS	NHLF	lung
38	chr1:79472600-79472800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:79472600-79472800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:79472600-79472800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:79472600-79472800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:79472600-79472800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:79472600-79472800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:79472600-79472800	Active TSS	Adipose Nuclei	Adipose
45	chr1:79472600-79472800	Enhancers	Fetal Muscle Leg	muscle
46	chr1:79472600-79472800	Bivalent Enhancer	Left Ventricle	heart
47	chr1:79472600-79472800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
48	chr1:79472600-79473000	Flanking Active TSS	HUVEC	blood vessel
49	chr1:79472600-79473000	Flanking Active TSS	Osteobl	bone
50	chr1:79472600-79473800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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