Variant report

Variant	rs16847651
Chromosome Location	chr1:227502561-227502562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227452777..227456360-chr1:227502343..227504370,3	K562	blood:
2	chr1:227500962..227504758-chr1:227504964..227507747,3	MCF-7	breast:
3	chr1:227486302..227488328-chr1:227502025..227504666,2	K562	blood:
4	chr1:227487011..227489287-chr1:227501111..227503917,2	MCF-7	breast:
5	chr1:227500332..227503244-chr1:227542452..227546426,3	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction
ENSG00000236636	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12565666	0.92[ASN][1000 genomes]
rs12567460	0.92[ASN][1000 genomes]
rs16847431	0.84[ASN][1000 genomes]
rs16847469	0.92[ASN][1000 genomes]
rs16847481	0.92[ASN][1000 genomes]
rs16847490	0.88[ASN][1000 genomes]
rs16847527	0.92[ASN][1000 genomes]
rs16847558	0.92[ASN][1000 genomes]
rs16847579	1.00[ASN][1000 genomes]
rs16847606	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227469200-227502600	Weak transcription	HSMM	muscle
2	chr1:227490200-227503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:227492600-227503400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:227495000-227503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:227496200-227504800	Weak transcription	Gastric	stomach
6	chr1:227497200-227502600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:227498200-227503000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:227498200-227503200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:227499400-227503800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:227500600-227503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:227500600-227503200	Weak transcription	Placenta	Placenta
12	chr1:227500600-227503200	Weak transcription	Right Ventricle	heart
13	chr1:227500600-227503400	Weak transcription	Ovary	ovary
14	chr1:227500600-227503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:227500600-227504800	Weak transcription	Lung	lung
16	chr1:227500800-227503200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:227500800-227503600	Weak transcription	Left Ventricle	heart
18	chr1:227500800-227504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:227500800-227504600	Weak transcription	Pancreas	Pancrea
20	chr1:227500800-227506600	Active TSS	K562	blood
21	chr1:227501200-227502600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:227501200-227503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:227501400-227502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:227501400-227503200	Weak transcription	Stomach Mucosa	stomach
25	chr1:227501400-227506800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:227501400-227507000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:227501600-227507000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:227501800-227503200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:227501800-227503200	Active TSS	Adipose Nuclei	Adipose
30	chr1:227501800-227503400	Active TSS	Fetal Brain Female	brain
31	chr1:227501800-227505400	Active TSS	Right Atrium	heart
32	chr1:227501800-227505600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:227501800-227505800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:227501800-227506600	Active TSS	Fetal Stomach	stomach
35	chr1:227501800-227506600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:227501800-227506600	Active TSS	HMEC	breast
37	chr1:227501800-227506600	Active TSS	NHEK	skin
38	chr1:227501800-227506800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:227501800-227506800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:227501800-227506800	Active TSS	Brain Anterior Caudate	brain
41	chr1:227501800-227506800	Active TSS	A549	lung
42	chr1:227501800-227506800	Active TSS	NHLF	lung
43	chr1:227501800-227507000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:227501800-227507000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:227501800-227507000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:227501800-227507000	Active TSS	Fetal Kidney	kidney
47	chr1:227501800-227507200	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:227501800-227507200	Active TSS	NHDF-Ad	bronchial
49	chr1:227502000-227502800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:227502000-227502800	Weak transcription	Colon Smooth Muscle	Colon

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