Variant report

Variant	rs4570600
Chromosome Location	chr11:85362026-85362027
allele	C/T
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	POLR2A	chr11:85361961-85362160	K562	blood:	n/a	n/a
2	POLR2A	chr11:85362022-85363356	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:85361999-85362603	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85329688..85331430-chr11:85360813..85362348,2	MCF-7	breast:
2	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:

Variant related genes	Relation type
TMEM126A	TF binding region
ENSG00000150672	Chromatin interaction
ENSG00000171204	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12099352	1.00[AMR][1000 genomes]
rs17148332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148370	1.00[AMR][1000 genomes]
rs17148398	1.00[AMR][1000 genomes]
rs17148484	1.00[AMR][1000 genomes]
rs3168151	1.00[AMR][1000 genomes]
rs55951903	1.00[AMR][1000 genomes]
rs59170492	1.00[AMR][1000 genomes]
rs6592249	1.00[AMR][1000 genomes]
rs6592261	1.00[AMR][1000 genomes]
rs7108539	1.00[AMR][1000 genomes]
rs73502601	1.00[AMR][1000 genomes]
rs73518849	1.00[AMR][1000 genomes]
rs7931532	1.00[AMR][1000 genomes]
rs7946536	1.00[AMR][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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr11:85359400-85362200	Weak transcription	Spleen	Spleen
2	chr11:85359400-85370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:85359400-85373000	Weak transcription	Small Intestine	intestine
4	chr11:85359400-85374000	Weak transcription	Esophagus	oesophagus
5	chr11:85359600-85362200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:85359600-85362200	Weak transcription	Left Ventricle	heart
7	chr11:85359600-85373000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:85359600-85373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:85359800-85362200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:85359800-85362200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:85359800-85362200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:85359800-85362200	Weak transcription	Primary B cells from cord blood	blood
13	chr11:85359800-85362200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:85359800-85362800	Weak transcription	Aorta	Aorta
15	chr11:85359800-85362800	Weak transcription	Psoas Muscle	Psoas
16	chr11:85359800-85364000	Weak transcription	Placenta	Placenta
17	chr11:85359800-85364600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:85359800-85364600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:85359800-85364800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:85359800-85365000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:85359800-85366600	Weak transcription	HSMMtube	muscle
22	chr11:85359800-85366800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:85359800-85368200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:85359800-85372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:85359800-85373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:85359800-85373000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:85359800-85373000	Weak transcription	Ovary	ovary
28	chr11:85359800-85373200	Weak transcription	Fetal Stomach	stomach
29	chr11:85360000-85362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:85360000-85362200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:85360000-85362200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:85360000-85362400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:85360000-85364400	Weak transcription	Brain Substantia Nigra	brain
34	chr11:85360000-85364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:85360000-85366200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:85360000-85366200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:85360000-85373000	Weak transcription	Colonic Mucosa	Colon
38	chr11:85360200-85362400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:85360200-85369200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:85360200-85371200	Weak transcription	Fetal Brain Male	brain
41	chr11:85360200-85372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:85360200-85373000	Weak transcription	Thymus	Thymus
43	chr11:85360400-85362200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:85360400-85362200	Weak transcription	Fetal Thymus	thymus
45	chr11:85360400-85362200	Weak transcription	A549	lung
46	chr11:85360400-85363400	Strong transcription	HSMM	muscle
47	chr11:85360400-85364200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:85360400-85364400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:85360400-85364400	Weak transcription	NH-A	brain
50	chr11:85360400-85364600	Weak transcription	Primary T cells from cord blood	blood

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