Variant report

Variant	rs549192891
Chromosome Location	chr1:78276745-78276746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv946006	chr1:78275815-78278401	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
3	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
5	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
6	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
7	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
8	chr1:78250400-78282400	Weak transcription	NHEK	skin
9	chr1:78250600-78279000	Weak transcription	NHLF	lung
10	chr1:78252200-78282600	Weak transcription	Right Ventricle	heart
11	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
12	chr1:78253000-78279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:78253000-78283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:78254400-78287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:78260600-78279800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:78262800-78285200	Weak transcription	Gastric	stomach
17	chr1:78266000-78298000	Weak transcription	K562	blood
18	chr1:78266200-78299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:78266200-78299200	Weak transcription	Pancreas	Pancrea
20	chr1:78266400-78279400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:78266600-78284200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:78267200-78279400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:78268400-78291200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:78270200-78279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:78272400-78286200	Weak transcription	Stomach Mucosa	stomach
26	chr1:78273400-78279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:78273400-78279600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:78273400-78289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:78273600-78279600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:78273600-78290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:78273600-78290000	Weak transcription	Psoas Muscle	Psoas
32	chr1:78273600-78293200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:78273800-78277400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:78273800-78277400	Weak transcription	Fetal Stomach	stomach
35	chr1:78273800-78279600	Weak transcription	Lung	lung
36	chr1:78273800-78284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:78273800-78284200	Weak transcription	Spleen	Spleen
38	chr1:78274000-78279600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:78274400-78279600	Weak transcription	NH-A	brain
40	chr1:78274600-78278600	Weak transcription	Left Ventricle	heart
41	chr1:78274600-78279400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:78274600-78279400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:78274600-78279600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:78274600-78279600	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:78274600-78280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:78274600-78282800	Weak transcription	HMEC	breast
47	chr1:78274600-78288600	Weak transcription	HepG2	liver
48	chr1:78274600-78290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:78274800-78278400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:78274800-78279200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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