Variant report

Variant	rs557587625
Chromosome Location	chr1:227335876-227335877
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	chr1:227125600..227128392-chr1:227333735..227336576,2	MCF-7	breast:
2	chr1:227327253..227330264-chr1:227332146..227336856,4	K562	blood:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	esv3351025	chr1:227335788-227336100	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
2	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
3	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
7	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:227316600-227352200	Weak transcription	Gastric	stomach
9	chr1:227317000-227374200	Weak transcription	HepG2	liver
10	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
14	chr1:227327000-227346200	Weak transcription	NH-A	brain
15	chr1:227327000-227346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:227327000-227347600	Weak transcription	Fetal Heart	heart
17	chr1:227327200-227341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:227327200-227348200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:227327200-227348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:227328400-227350000	Weak transcription	Fetal Brain Male	brain
22	chr1:227328600-227351600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:227328800-227346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:227328800-227354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
27	chr1:227329800-227348400	Weak transcription	Fetal Brain Female	brain
28	chr1:227331400-227346200	Weak transcription	Pancreas	Pancrea
29	chr1:227331600-227355000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:227332200-227345800	Weak transcription	Fetal Stomach	stomach
32	chr1:227332400-227347400	Weak transcription	Fetal Intestine Small	intestine
33	chr1:227332800-227337400	Weak transcription	NHLF	lung
34	chr1:227332800-227345800	Weak transcription	Left Ventricle	heart
35	chr1:227332800-227346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:227332800-227346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:227332800-227346200	Weak transcription	NHEK	skin
38	chr1:227332800-227346400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:227332800-227346400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:227332800-227350000	Weak transcription	HMEC	breast
41	chr1:227332800-227350200	Weak transcription	Lung	lung
42	chr1:227332800-227354600	Weak transcription	Ovary	ovary
43	chr1:227333000-227346000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:227333000-227346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:227333000-227349400	Weak transcription	Placenta	Placenta
46	chr1:227333200-227354800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:227333400-227336600	Weak transcription	K562	blood
48	chr1:227333400-227339000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:227333400-227341200	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:227333400-227342600	Weak transcription	Fetal Kidney	kidney

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