Variant report

Variant	rs7536444
Chromosome Location	chr1:227334574-227334575
allele	C/T
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10458379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916098	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035998	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12080452	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12095674	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12097121	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929859	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2104863	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2458523	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2482453	0.89[ASN][1000 genomes]
rs4551562	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653788	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4653790	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs477373	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482032	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs533134	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs567467	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58442036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595155	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61834563	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61834564	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61836477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645081	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6664803	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688718	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:93 , 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	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:227326600-227334600	Strong transcription	HUVEC	blood vessel
16	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
17	chr1:227327000-227334600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:227327000-227346200	Weak transcription	NH-A	brain
19	chr1:227327000-227346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:227327000-227347600	Weak transcription	Fetal Heart	heart
21	chr1:227327200-227341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:227327200-227348200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:227327200-227348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:227328000-227335000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:227328400-227335400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:227328400-227350000	Weak transcription	Fetal Brain Male	brain
28	chr1:227328600-227351600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:227328800-227346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:227328800-227354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
33	chr1:227329800-227334600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:227329800-227348400	Weak transcription	Fetal Brain Female	brain
35	chr1:227331400-227346200	Weak transcription	Pancreas	Pancrea
36	chr1:227331600-227355000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:227332200-227345800	Weak transcription	Fetal Stomach	stomach
39	chr1:227332400-227347400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:227332800-227337400	Weak transcription	NHLF	lung
41	chr1:227332800-227345800	Weak transcription	Left Ventricle	heart
42	chr1:227332800-227346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:227332800-227346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:227332800-227346200	Weak transcription	NHEK	skin
45	chr1:227332800-227346400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:227332800-227346400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:227332800-227350000	Weak transcription	HMEC	breast
48	chr1:227332800-227350200	Weak transcription	Lung	lung
49	chr1:227332800-227354600	Weak transcription	Ovary	ovary
50	chr1:227333000-227346000	Weak transcription	Duodenum Mucosa	Duodenum

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