Variant report

Variant	rs530473693
Chromosome Location	chr1:10368258-10368259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10366942..10370900-chr1:10370974..10374307,3	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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv437200	chr1:10366487-10387704	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1003027	chr1:10367332-10377971	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
4	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
7	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
8	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:10358400-10369400	Weak transcription	Psoas Muscle	Psoas
10	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
13	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:10363000-10373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10363600-10373400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:10363800-10380000	Weak transcription	A549	lung
18	chr1:10364200-10368600	Weak transcription	K562	blood
19	chr1:10364200-10381800	Weak transcription	Gastric	stomach
20	chr1:10364200-10394600	Weak transcription	Dnd41	blood
21	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:10364600-10369400	Weak transcription	Ovary	ovary
24	chr1:10364600-10369400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
28	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
29	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
30	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
33	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
34	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:10365000-10379600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:10365000-10381600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:10365000-10381800	Weak transcription	Aorta	Aorta
43	chr1:10365000-10381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:10365000-10385800	Weak transcription	NHEK	skin
46	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
47	chr1:10365400-10369400	Weak transcription	NH-A	brain
48	chr1:10365600-10382400	Weak transcription	NHLF	lung
49	chr1:10365600-10383800	Weak transcription	HMEC	breast
50	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix

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