Variant report

Variant	rs1293990
Chromosome Location	chr1:186270239-186270240
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	chr1:186268258..186271597-chr1:186273909..186276929,3	MCF-7	breast:
2	chr1:186267939..186270683-chr1:186273055..186275696,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10158397	1.00[ASN][1000 genomes]
rs1881444	1.00[ASN][1000 genomes]
rs3011999	1.00[AMR][1000 genomes]
rs55865939	1.00[ASN][1000 genomes]
rs56077851	1.00[ASN][1000 genomes]
rs73044674	1.00[ASN][1000 genomes]
rs73046582	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 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	chr1:186259000-186270400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:186259600-186273600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:186265200-186271200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:186265600-186279400	Weak transcription	A549	lung
5	chr1:186267200-186271600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:186267200-186281600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:186267400-186271200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:186267400-186280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:186268400-186279200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:186268600-186270400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:186268600-186281200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:186269000-186270400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:186269000-186274800	Weak transcription	Psoas Muscle	Psoas
14	chr1:186269000-186281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:186269200-186270400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:186269200-186270600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:186269400-186277600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:186269400-186281400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:186269400-186281400	Weak transcription	Fetal Heart	heart
20	chr1:186269600-186270400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:186269600-186270400	Weak transcription	Liver	Liver
22	chr1:186269600-186270600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:186269600-186271200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:186269600-186272400	Weak transcription	Thymus	Thymus
25	chr1:186270200-186277400	Enhancers	Primary T cells from cord blood	blood
26	chr1:186270200-186277800	Enhancers	Fetal Thymus	thymus

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