Variant report

Variant	rs630456
Chromosome Location	chr11:68225587-68225588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:68225281-68225798	HepG2	liver:	n/a	chr11:68225321-68225340

No.	Distal block	Cell Line	Cell type
1	chr11:68216085..68219220-chr11:68223663..68227582,3	K562	blood:
2	chr11:68224634..68226483-chr11:68226718..68228264,2	MCF-7	breast:
3	chr11:68214551..68216392-chr11:68225423..68227032,2	MCF-7	breast:
4	chr11:68225277..68226845-chr11:68239480..68241102,2	K562	blood:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10736668	1.00[AMR][1000 genomes]
rs10750828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2509524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510369	1.00[AMR][1000 genomes]
rs2510381	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2510409	1.00[AMR][1000 genomes]
rs4930231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930232	1.00[EUR][1000 genomes]
rs537666	1.00[AFR][1000 genomes]
rs542995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs570947	1.00[EUR][1000 genomes]
rs588578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs662856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs678917	1.00[AMR][1000 genomes]
rs693747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73515048	1.00[EUR][1000 genomes]
rs73515053	1.00[EUR][1000 genomes]
rs73516804	1.00[EUR][1000 genomes]
rs7948045	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv1800066	chr11:68217420-68228586	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:68198800-68227000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:68201000-68227400	Weak transcription	Fetal Brain Male	brain
4	chr11:68206800-68227200	Weak transcription	Fetal Kidney	kidney
5	chr11:68207000-68227400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:68208000-68227200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:68214200-68227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:68214800-68227400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:68215200-68227200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:68216000-68225800	Weak transcription	K562	blood
11	chr11:68216200-68226800	Weak transcription	Dnd41	blood
12	chr11:68216200-68227000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:68216200-68227000	Weak transcription	GM12878-XiMat	blood
14	chr11:68216200-68227400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:68216200-68227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:68216400-68226800	Weak transcription	Hela-S3	cervix
17	chr11:68216400-68227200	Weak transcription	Fetal Thymus	thymus
18	chr11:68216400-68227200	Weak transcription	A549	lung
19	chr11:68216600-68227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:68216600-68227400	Weak transcription	Ovary	ovary
21	chr11:68217000-68226800	Weak transcription	Right Ventricle	heart
22	chr11:68217000-68227200	Weak transcription	Left Ventricle	heart
23	chr11:68217400-68227200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:68217600-68226800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:68217600-68227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:68217600-68227200	Weak transcription	Spleen	Spleen
27	chr11:68217800-68227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:68217800-68227200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:68217800-68227200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:68217800-68227200	Weak transcription	Adipose Nuclei	Adipose
31	chr11:68217800-68227200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:68217800-68227200	Weak transcription	Thymus	Thymus
33	chr11:68217800-68227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:68217800-68227400	Weak transcription	Aorta	Aorta
35	chr11:68218000-68226800	Weak transcription	Pancreas	Pancrea
36	chr11:68218000-68227200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:68218000-68227200	Weak transcription	Fetal Lung	lung
38	chr11:68220600-68227400	Weak transcription	Right Atrium	heart
39	chr11:68222800-68227000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:68223000-68227000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:68223000-68227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:68223000-68227400	Weak transcription	Gastric	stomach
43	chr11:68223200-68226800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:68223200-68227000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:68223200-68227200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:68223200-68227200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:68223200-68227200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:68223200-68227200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:68223400-68227000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:68223400-68227800	Weak transcription	Small Intestine	intestine

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