Variant report

Variant	rs4752982
Chromosome Location	chr11:47347162-47347163
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	chr11:47346871-47347214	K562	blood:	n/a	n/a
2	POLR2A	chr11:47346750-47347692	K562	blood:	n/a	n/a
3	POLR2A	chr11:47346978-47347190	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47345193..47348335-chr11:47348410..47351414,3	K562	blood:
2	chr11:47346954..47348985-chr11:47352662..47354542,2	MCF-7	breast:
3	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1017594	1.00[AFR][1000 genomes]
rs10466401	1.00[AFR][1000 genomes]
rs10742808	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10769269	1.00[AFR][1000 genomes]
rs10838701	1.00[AFR][1000 genomes]
rs11039196	1.00[AFR][1000 genomes]
rs11039228	1.00[AFR][1000 genomes]
rs11602132	1.00[AFR][1000 genomes]
rs2020057	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2084541	1.00[AFR][1000 genomes]
rs2868447	1.00[AFR][1000 genomes]
rs2868603	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4519056	1.00[AFR][1000 genomes]
rs4752826	1.00[AFR][1000 genomes]
rs4752831	1.00[AFR][1000 genomes]
rs4752841	1.00[AFR][1000 genomes]
rs4752985	1.00[AFR][1000 genomes]
rs4752989	1.00[AFR][1000 genomes]
rs4752991	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4752995	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485754	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485757	1.00[YRI][hapmap]
rs7105005	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7119799	1.00[AFR][1000 genomes]
rs7932148	1.00[AFR][1000 genomes]
rs7934846	1.00[AFR][1000 genomes]
rs7951044	1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 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	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:47296000-47353600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47311800-47348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47323400-47352400	Strong transcription	Thymus	Thymus
7	chr11:47324200-47354600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:47324800-47352600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:47325000-47352400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:47325000-47352800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:47325400-47349200	Strong transcription	Fetal Thymus	thymus
12	chr11:47325400-47353000	Strong transcription	Fetal Intestine Small	intestine
13	chr11:47326000-47353600	Strong transcription	Fetal Stomach	stomach
14	chr11:47327800-47352200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:47328200-47351400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:47333000-47349400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:47333800-47350600	Weak transcription	Psoas Muscle	Psoas
18	chr11:47336400-47350400	Weak transcription	HMEC	breast
19	chr11:47337400-47348400	Weak transcription	Small Intestine	intestine
20	chr11:47338800-47347200	Weak transcription	Fetal Heart	heart
21	chr11:47338800-47356200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:47339200-47353000	Weak transcription	NH-A	brain
23	chr11:47340200-47352800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:47340400-47348600	Weak transcription	Osteobl	bone
25	chr11:47342000-47351800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:47342200-47348600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:47342200-47350200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:47342200-47352400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:47342200-47353200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:47342400-47349600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:47342400-47350400	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:47342400-47352000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:47342400-47352400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:47342400-47352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:47342600-47349800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr11:47342600-47350400	Strong transcription	Adipose Nuclei	Adipose
37	chr11:47342600-47350600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47342600-47350800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr11:47342600-47350800	Strong transcription	HepG2	liver
40	chr11:47342600-47351200	Strong transcription	Fetal Lung	lung
41	chr11:47342600-47351600	Strong transcription	Hela-S3	cervix
42	chr11:47342600-47351800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:47342600-47352200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:47342600-47352200	Strong transcription	Fetal Brain Female	brain
45	chr11:47342600-47352400	Strong transcription	Dnd41	blood
46	chr11:47342600-47352600	Strong transcription	Liver	Liver
47	chr11:47342600-47352600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr11:47342600-47352600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr11:47342600-47353200	Strong transcription	Placenta	Placenta
50	chr11:47342800-47350600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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