Variant report

Variant	rs16847205
Chromosome Location	chr1:227334326-227334327
allele	A/C
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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10799385	0.88[AFR][1000 genomes]
rs10799386	0.88[AFR][1000 genomes]
rs10916091	0.88[AFR][1000 genomes]
rs10916094	0.88[AFR][1000 genomes]
rs12063170	0.88[AFR][1000 genomes]
rs1355815	0.81[AFR][1000 genomes]
rs1398858	0.81[AFR][1000 genomes]
rs1473599	0.81[AFR][1000 genomes]
rs1513599	0.81[AFR][1000 genomes]
rs1513619	0.81[AFR][1000 genomes]
rs16846848	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16847485	1.00[EUR][1000 genomes]
rs1877617	0.81[AFR][1000 genomes]
rs1913343	0.81[AFR][1000 genomes]
rs1949227	0.81[AFR][1000 genomes]
rs2313497	0.81[AFR][1000 genomes]
rs6413866	0.81[AFR][1000 genomes]
rs6426568	0.88[AFR][1000 genomes]
rs6426570	0.81[AFR][1000 genomes]
rs6426572	0.81[AFR][1000 genomes]
rs6426581	0.81[AFR][1000 genomes]
rs6426583	0.81[AFR][1000 genomes]
rs6656723	0.88[AFR][1000 genomes]
rs6662266	0.81[AFR][1000 genomes]
rs6702869	0.88[AFR][1000 genomes]
rs7517177	0.88[AFR][1000 genomes]
rs7518532	1.00[AMR][1000 genomes]
rs7527825	0.81[AFR][1000 genomes]
rs7540282	0.81[AFR][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	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
9	chr1:227316600-227352200	Weak transcription	Gastric	stomach
10	chr1:227317000-227374200	Weak transcription	HepG2	liver
11	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:227325400-227334400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:227326600-227334600	Strong transcription	HUVEC	blood vessel
18	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
19	chr1:227327000-227334600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:227327000-227346200	Weak transcription	NH-A	brain
21	chr1:227327000-227346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:227327000-227347600	Weak transcription	Fetal Heart	heart
23	chr1:227327200-227341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:227327200-227348200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:227327200-227348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:227328000-227335000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:227328400-227335400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:227328400-227350000	Weak transcription	Fetal Brain Male	brain
30	chr1:227328600-227351600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:227328800-227346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:227328800-227354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
35	chr1:227329800-227334600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:227329800-227348400	Weak transcription	Fetal Brain Female	brain
37	chr1:227331400-227346200	Weak transcription	Pancreas	Pancrea
38	chr1:227331600-227355000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:227332200-227345800	Weak transcription	Fetal Stomach	stomach
41	chr1:227332400-227347400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:227332800-227337400	Weak transcription	NHLF	lung
43	chr1:227332800-227345800	Weak transcription	Left Ventricle	heart
44	chr1:227332800-227346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:227332800-227346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:227332800-227346200	Weak transcription	NHEK	skin
47	chr1:227332800-227346400	Weak transcription	Brain Angular Gyrus	brain
48	chr1:227332800-227346400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:227332800-227350000	Weak transcription	HMEC	breast
50	chr1:227332800-227350200	Weak transcription	Lung	lung

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