Variant report

Variant	rs540571758
Chromosome Location	chr1:180280334-180280335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180269279..180270936-chr1:180279366..180281491,2	K562	blood:
2	chr1:180275452..180277141-chr1:180277823..180280366,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180245200-180282400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:180245400-180280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:180247800-180284200	Weak transcription	Fetal Thymus	thymus
4	chr1:180254400-180280400	Weak transcription	Fetal Stomach	stomach
5	chr1:180254800-180282400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:180257600-180289600	Weak transcription	Hela-S3	cervix
7	chr1:180257800-180287200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:180257800-180296200	Weak transcription	Left Ventricle	heart
9	chr1:180258400-180285200	Weak transcription	Ovary	ovary
10	chr1:180261200-180284200	Weak transcription	K562	blood
11	chr1:180267000-180284400	Weak transcription	GM12878-XiMat	blood
12	chr1:180268200-180282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:180269200-180282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:180271600-180284600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:180274600-180281600	Weak transcription	Fetal Brain Male	brain
16	chr1:180275000-180280600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:180276200-180280400	Weak transcription	Liver	Liver
18	chr1:180276200-180283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:180276400-180280800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:180276400-180281600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:180276400-180284600	Weak transcription	Fetal Lung	lung
22	chr1:180276600-180280600	Weak transcription	Placenta	Placenta
23	chr1:180276800-180280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:180277200-180280600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:180277600-180280800	Enhancers	HepG2	liver
26	chr1:180277800-180283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:180277800-180284200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:180277800-180284800	Weak transcription	Psoas Muscle	Psoas
29	chr1:180278000-180282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:180278000-180284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:180278000-180285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:180278000-180298200	Weak transcription	Esophagus	oesophagus
33	chr1:180278200-180281000	Flanking Active TSS	A549	lung
34	chr1:180278400-180282200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:180278600-180282400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:180278600-180282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:180278800-180280400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:180278800-180281000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:180278800-180281400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:180278800-180282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:180278800-180282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:180278800-180284400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:180278800-180285400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:180278800-180286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:180278800-180296000	Weak transcription	Pancreas	Pancrea
46	chr1:180279000-180280800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:180279000-180281600	Weak transcription	HSMM	muscle
48	chr1:180279000-180282400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:180279000-180285400	Weak transcription	NHEK	skin
50	chr1:180279000-180297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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