Variant report

Variant	rs12563019
Chromosome Location	chr1:227286300-227286301
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	chr1:227285309..227287428-chr1:227288705..227291944,3	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12562781	1.00[ASN][1000 genomes]
rs12563005	1.00[ASN][1000 genomes]
rs12563361	1.00[ASN][1000 genomes]
rs12563460	1.00[ASN][1000 genomes]
rs12565685	0.83[ASN][1000 genomes]
rs12566316	1.00[ASN][1000 genomes]
rs12569190	0.96[ASN][1000 genomes]
rs12569194	0.96[ASN][1000 genomes]
rs16846862	0.96[ASN][1000 genomes]
rs16846867	0.96[ASN][1000 genomes]
rs16846881	1.00[ASN][1000 genomes]
rs16846887	1.00[ASN][1000 genomes]
rs16846901	1.00[ASN][1000 genomes]
rs16846903	1.00[ASN][1000 genomes]
rs16846909	1.00[ASN][1000 genomes]
rs16846930	1.00[ASN][1000 genomes]
rs16846944	1.00[ASN][1000 genomes]
rs16847001	1.00[ASN][1000 genomes]
rs16847020	0.82[ASN][1000 genomes]
rs16847126	1.00[ASN][1000 genomes]
rs16847137	0.96[ASN][1000 genomes]
rs16847143	1.00[ASN][1000 genomes]
rs73100852	0.81[ASN][1000 genomes]
rs961490	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
4	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:227247400-227299800	Weak transcription	HMEC	breast
8	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:227257600-227288000	Weak transcription	HSMMtube	muscle
10	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
12	chr1:227260400-227287800	Weak transcription	NHEK	skin
13	chr1:227261400-227287800	Weak transcription	Osteobl	bone
14	chr1:227268800-227287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:227271800-227286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:227271800-227286800	Weak transcription	NHDF-Ad	bronchial
17	chr1:227271800-227287800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:227271800-227288000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:227272600-227286400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:227272600-227294400	Weak transcription	Fetal Heart	heart
22	chr1:227272800-227295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:227272800-227295000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:227272800-227331000	Weak transcription	Lung	lung
25	chr1:227273000-227286400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:227275400-227287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:227277000-227288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:227277200-227286400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
32	chr1:227279200-227286400	Weak transcription	Ovary	ovary
33	chr1:227279200-227286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:227279200-227286600	Weak transcription	Fetal Lung	lung
35	chr1:227279200-227287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:227279200-227287800	Weak transcription	Aorta	Aorta
37	chr1:227279200-227287800	Weak transcription	Brain Anterior Caudate	brain
38	chr1:227279200-227287800	Weak transcription	Fetal Stomach	stomach
39	chr1:227279400-227286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:227279400-227286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:227279400-227288000	Weak transcription	NH-A	brain
42	chr1:227279800-227286400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:227279800-227287200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:227279800-227299000	Weak transcription	Placenta	Placenta
45	chr1:227280800-227298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:227281400-227286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:227281800-227294400	Weak transcription	Fetal Kidney	kidney
48	chr1:227282400-227287800	Weak transcription	NHLF	lung
49	chr1:227282400-227288000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:227282600-227287600	Weak transcription	Liver	Liver

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