Variant report

Variant	rs588578
Chromosome Location	chr11:68284426-68284427
allele	C/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	GATA3	chr11:68284346-68284453	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:68227166..68229469-chr11:68283239..68284838,2	MCF-7	breast:
2	chr11:68284209..68285871-chr11:68291553..68293421,2	MCF-7	breast:
3	chr11:68284040..68285564-chr11:68288332..68289934,2	K562	blood:

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10736668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10750828	1.00[AMR][1000 genomes]
rs2509524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510381	1.00[EUR][1000 genomes]
rs2510409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2513301	1.00[AFR][1000 genomes]
rs2513302	1.00[AFR][1000 genomes]
rs34895243	1.00[AFR][1000 genomes]
rs4930231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930232	1.00[AFR][1000 genomes];1.00[EUR][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]
rs630456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640678	1.00[AFR][1000 genomes]
rs662856	1.00[AMR][1000 genomes]
rs678917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693747	1.00[AMR][1000 genomes]
rs7107592	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948864	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
10	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
11	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
15	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
16	chr11:68272400-68289400	Weak transcription	NHLF	lung
17	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:68273800-68288600	Weak transcription	HSMMtube	muscle
19	chr11:68274400-68296000	Weak transcription	Stomach Mucosa	stomach
20	chr11:68276000-68287800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
22	chr11:68276200-68290200	Weak transcription	Fetal Brain Female	brain
23	chr11:68276600-68285000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:68276600-68286800	Weak transcription	NH-A	brain
25	chr11:68276600-68287000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:68276600-68287000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:68276800-68284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:68276800-68285800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:68276800-68286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:68276800-68287000	Weak transcription	Adipose Nuclei	Adipose
32	chr11:68276800-68288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:68276800-68290600	Weak transcription	Brain Angular Gyrus	brain
34	chr11:68277000-68287400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:68277200-68289000	Weak transcription	NHDF-Ad	bronchial
36	chr11:68277200-68289600	Weak transcription	Fetal Heart	heart
37	chr11:68277400-68292200	Weak transcription	Right Ventricle	heart
38	chr11:68277600-68336000	Strong transcription	Dnd41	blood
39	chr11:68278000-68287200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:68278200-68287200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:68278400-68287800	Weak transcription	HMEC	breast
42	chr11:68278600-68291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:68279000-68285200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:68280000-68284800	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:68280000-68287000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:68280200-68284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:68280400-68284800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:68280400-68285800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:68280600-68287200	Weak transcription	Gastric	stomach
50	chr11:68280600-68287200	Weak transcription	Lung	lung

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