Variant report

Variant	rs553691194
Chromosome Location	chr1:160813694-160813695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160805876..160809429-chr1:160811999..160815816,3	K562	blood:
2	chr1:160812347..160814026-chr1:160815697..160817940,2	K562	blood:
3	chr1:160808897..160810604-chr1:160813448..160815134,2	MCF-7	breast:
4	chr1:160805876..160808335-chr1:160811999..160814822,2	K562	blood:

Variant related genes	Relation type
ENSG00000226003	Chromatin interaction
ENSG00000122223	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv946456	chr1:160812650-160824679	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160809000-160814200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:160809000-160814400	Weak transcription	Spleen	Spleen
3	chr1:160809200-160814400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:160809200-160814800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:160810200-160814800	Weak transcription	Dnd41	blood
6	chr1:160810200-160815000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:160810600-160814400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:160811400-160820200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:160811800-160814200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:160811800-160814400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:160811800-160815000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:160811800-160824600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:160812200-160814400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:160812400-160814200	Weak transcription	Left Ventricle	heart
15	chr1:160812400-160814400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:160812400-160816600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:160812600-160814400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:160812600-160814400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:160812600-160816000	Weak transcription	Fetal Heart	heart
20	chr1:160812600-160816800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:160812800-160816800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:160812800-160824200	Weak transcription	Thymus	Thymus
23	chr1:160813400-160813800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:160813400-160815400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:160813600-160813800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:160813600-160813800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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