Variant report

Variant	rs34098573
Chromosome Location	chr1:192981805-192981806
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192979947..192982887-chr1:192983438..192986734,3	K562	blood:
2	chr1:192981169..192983545-chr1:192999201..193001195,2	K562	blood:
3	chr1:192973548..192977447-chr1:192979869..192983384,3	K562	blood:
4	chr1:192980684..192984723-chr1:192984841..192989093,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv3966	chr1:192976457-193004886	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv947359	chr1:192980236-192987689	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
2	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
6	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
11	chr1:192963800-192983000	Weak transcription	NH-A	brain
12	chr1:192963800-192990000	Weak transcription	HMEC	breast
13	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
15	chr1:192963800-193012400	Weak transcription	NHEK	skin
16	chr1:192963800-193019600	Weak transcription	Ovary	ovary
17	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
18	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
19	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
21	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
25	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:192968000-192984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
29	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:192972400-192982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:192972800-192983200	Weak transcription	K562	blood
34	chr1:192972800-192991200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:192972800-192991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:192973200-192992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:192975200-192985000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:192975400-192982800	Weak transcription	Psoas Muscle	Psoas
39	chr1:192975400-192991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:192977000-192982400	Enhancers	Fetal Intestine Small	intestine
41	chr1:192977600-192985200	Weak transcription	Dnd41	blood
42	chr1:192977600-192992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:192977600-193005200	Weak transcription	A549	lung
44	chr1:192978200-192982000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:192979000-192990600	Weak transcription	Liver	Liver
46	chr1:192979000-192994400	Weak transcription	HepG2	liver
47	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:192979800-192985000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:192979800-192989400	Weak transcription	GM12878-XiMat	blood
50	chr1:192980000-192982600	Enhancers	Duodenum Mucosa	Duodenum

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