Variant report

Variant	rs5030125
Chromosome Location	chr11:32458154-32458155
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
2	SETDB1	chr11:32457138-32458796	K562	blood:	n/a	n/a
3	CTBP2	chr11:32457051-32458830	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr11:32457827-32458191	K562	blood:	n/a	n/a
5	MAX	chr11:32454143-32458628	NB4	blood:	n/a	chr11:32457467-32457477
6	TBP	chr11:32457849-32458189	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr11:32453771-32458890	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:32457690-32458203	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:32456658-32458173	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:32455344-32458279	HL-60	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
2	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32457585-32458383	NONHSAT018663
2	lnc-EIF3M-2	chr11:32457585-32460136	NONHSAT018664

No data

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5030118	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32453400-32459600	Active TSS	Right Atrium	heart
2	chr11:32454600-32458600	Bivalent/Poised TSS	Left Ventricle	heart
3	chr11:32454600-32458800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr11:32454600-32459800	Active TSS	Ovary	ovary
5	chr11:32454800-32458200	Bivalent Enhancer	Esophagus	oesophagus
6	chr11:32454800-32458600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr11:32455200-32458200	Enhancers	Pancreas	Pancrea
9	chr11:32455800-32459000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:32456000-32458600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:32456000-32458600	Bivalent Enhancer	Lung	lung
12	chr11:32456200-32458200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:32456200-32458600	Enhancers	Gastric	stomach
14	chr11:32456400-32458400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr11:32456400-32458600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr11:32456400-32459000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr11:32456800-32458200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:32456800-32458200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr11:32456800-32458800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr11:32456800-32459600	Active TSS	Right Ventricle	heart
21	chr11:32456800-32460400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr11:32457200-32458200	Flanking Active TSS	K562	blood
28	chr11:32457200-32458200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr11:32457200-32458400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr11:32457200-32458400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:32457200-32458400	Bivalent Enhancer	Fetal Heart	heart
32	chr11:32457200-32458600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:32457200-32458600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr11:32457200-32460600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:32457200-32461000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:32457400-32458200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr11:32457400-32458200	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr11:32457400-32458400	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr11:32457400-32458600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:32457400-32458800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr11:32457400-32458800	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr11:32457400-32459400	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr11:32457400-32460000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:32457600-32458200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:32457600-32458200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr11:32457600-32458200	Bivalent/Poised TSS	NHEK	skin
47	chr11:32457600-32458600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr11:32457600-32459400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:32457600-32460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr11:32457800-32458200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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