Variant report

Variant	rs73521428
Chromosome Location	chr11:68298840-68298841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr11:68298632-68298941	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68296455..68299790-chr11:68302079..68305805,5	MCF-7	breast:
2	chr11:68298372..68300264-chr11:68312543..68314090,2	MCF-7	breast:
3	chr11:68294325..68295955-chr11:68298713..68301491,2	MCF-7	breast:
4	chr11:68295776..68299439-chr11:68303411..68307238,4	MCF-7	breast:
5	chr11:68297338..68300739-chr11:68302281..68305792,3	K562	blood:
6	chr11:68294569..68300884-chr11:68301250..68310355,12	K562	blood:
7	chr11:68295992..68298851-chr14:22471442..22473971,2	MCF-7	breast:
8	chr11:68236521..68239221-chr11:68297356..68298866,2	K562	blood:

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11600058	1.00[ASN][1000 genomes]
rs11601298	1.00[ASN][1000 genomes]
rs2510394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34638895	1.00[ASN][1000 genomes]
rs56852990	1.00[ASN][1000 genomes]
rs58494027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58531839	1.00[ASN][1000 genomes]
rs58981121	1.00[AFR][1000 genomes]
rs59010692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61387988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61598913	1.00[AMR][1000 genomes]
rs73504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506207	1.00[AMR][1000 genomes]
rs73506270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508108	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73508114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508122	1.00[ASN][1000 genomes]
rs73511095	1.00[ASN][1000 genomes]
rs73516848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516865	1.00[AMR][1000 genomes]
rs73516880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516891	1.00[ASN][1000 genomes]
rs73516894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521433	1.00[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
4	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:68277600-68336000	Strong transcription	Dnd41	blood
6	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:68286200-68300200	Strong transcription	Hela-S3	cervix
8	chr11:68286400-68303200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:68287000-68299200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:68287200-68301200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:68288600-68309000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:68292600-68301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:68292600-68308200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:68293200-68302200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:68293600-68299800	Strong transcription	NHEK	skin
16	chr11:68293600-68300000	Strong transcription	A549	lung
17	chr11:68295000-68301400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:68295400-68300600	Weak transcription	Colonic Mucosa	Colon
19	chr11:68295400-68300600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:68295400-68301400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:68295400-68305200	Weak transcription	HMEC	breast
22	chr11:68295400-68306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:68295600-68299000	Weak transcription	Ovary	ovary
24	chr11:68295600-68299000	Weak transcription	HepG2	liver
25	chr11:68295600-68300200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:68295600-68302600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:68295600-68305600	Weak transcription	Fetal Brain Female	brain
28	chr11:68295800-68306200	Weak transcription	HSMMtube	muscle
29	chr11:68296200-68302600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:68296400-68299000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:68296400-68299000	Weak transcription	Stomach Mucosa	stomach
32	chr11:68296400-68299200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:68296400-68300000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:68296400-68300000	Weak transcription	HSMM	muscle
35	chr11:68296400-68301000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:68296400-68301200	Weak transcription	Pancreas	Pancrea
37	chr11:68296400-68302600	Weak transcription	Esophagus	oesophagus
38	chr11:68296400-68305400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:68296400-68306000	Weak transcription	Fetal Heart	heart
40	chr11:68296400-68307800	Strong transcription	GM12878-XiMat	blood
41	chr11:68296600-68299000	Weak transcription	Primary T cells from cord blood	blood
42	chr11:68296600-68299000	Weak transcription	Brain Anterior Caudate	brain
43	chr11:68296600-68299000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:68296600-68299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:68296600-68299200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:68296600-68299200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:68296600-68299200	Weak transcription	Fetal Intestine Large	intestine
48	chr11:68296600-68299200	Weak transcription	Left Ventricle	heart
49	chr11:68296600-68299400	Weak transcription	NHDF-Ad	bronchial
50	chr11:68296600-68299600	Weak transcription	Fetal Muscle Trunk	muscle

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