Variant report

Variant	rs562767647
Chromosome Location	chr18:7741030-7741031
allele	C/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	HDAC2	chr18:7740919-7741141	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA1-5	chr18:7740621-7741979	NONHSAT057159

Variant related genes	Relation type
ENSG00000221631	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470406	chr18:7700462-7747873	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1064869	chr18:7730116-7760969	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1061538	chr18:7730116-7762149	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1067394	chr18:7730116-7768536	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv2656311	chr18:7732141-7761056	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1057760	chr18:7732188-7760969	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv431970	chr18:7732188-7770950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv525328	chr18:7732917-7760498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv576421	chr18:7732917-7761056	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv576422	chr18:7732917-7763363	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv576423	chr18:7732917-7788329	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv576424	chr18:7740473-7761056	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region 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	chr18:7734600-7745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr18:7735200-7743000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:7735200-7745200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:7735400-7741200	Weak transcription	Psoas Muscle	Psoas
5	chr18:7735400-7745200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:7735800-7741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:7735800-7745200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:7736200-7745000	Weak transcription	A549	lung
9	chr18:7737800-7741200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:7737800-7746800	Weak transcription	Spleen	Spleen
11	chr18:7737800-7748400	Weak transcription	Gastric	stomach
12	chr18:7738000-7741200	Weak transcription	Lung	lung
13	chr18:7738000-7746600	Weak transcription	Right Atrium	heart
14	chr18:7738600-7742000	Enhancers	Fetal Thymus	thymus
15	chr18:7738800-7741400	Enhancers	Thymus	Thymus
16	chr18:7739000-7746800	Weak transcription	Pancreas	Pancrea
17	chr18:7739000-7750600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:7739600-7742000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:7739600-7743200	Enhancers	Fetal Muscle Leg	muscle
20	chr18:7739800-7741200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:7739800-7741600	Enhancers	Fetal Kidney	kidney
22	chr18:7740000-7741400	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:7740000-7742800	Enhancers	Fetal Stomach	stomach
24	chr18:7740200-7741200	Weak transcription	Left Ventricle	heart
25	chr18:7740200-7742600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:7740400-7741200	Enhancers	Fetal Lung	lung
27	chr18:7740600-7741400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:7740600-7742200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr18:7740600-7742200	Enhancers	Fetal Heart	heart
30	chr18:7740600-7742400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr18:7740800-7741400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr18:7740800-7741400	Enhancers	HepG2	liver
33	chr18:7740800-7741800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:7740800-7742000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:7740800-7742000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:7740800-7742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr18:7740800-7742000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr18:7740800-7742200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr18:7740800-7742600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr18:7740800-7742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr18:7740800-7742800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr18:7740800-7743400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr18:7740800-7744000	Enhancers	Adipose Nuclei	Adipose
44	chr18:7741000-7741200	Enhancers	Stomach Smooth Muscle	stomach
45	chr18:7741000-7741400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:7741000-7741400	Enhancers	Aorta	Aorta
47	chr18:7741000-7741400	Enhancers	Right Ventricle	heart
48	chr18:7741000-7742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:7741000-7742000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:7741000-7744000	Enhancers	Skeletal Muscle Male	skeletal muscle

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