Variant report

Variant	rs11575820
Chromosome Location	chr3:46422132-46422133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:
2	chr3:46420928..46423796-chr3:46462092..46464094,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11575814	1.00[AMR][1000 genomes]
rs11575817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11575818	1.00[AMR][1000 genomes]
rs11575822	1.00[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
2	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
3	chr3:46417000-46422200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:46420000-46422200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:46420000-46423000	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:46420200-46422400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:46420400-46425400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:46420400-46427600	Weak transcription	Pancreas	Pancrea
9	chr3:46420600-46422200	Weak transcription	Stomach Mucosa	stomach
10	chr3:46421000-46422400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46421000-46423000	Enhancers	Primary B cells from cord blood	blood
12	chr3:46421200-46422200	Weak transcription	Hela-S3	cervix
13	chr3:46421400-46422200	Enhancers	GM12878-XiMat	blood
14	chr3:46421400-46422400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:46421400-46422800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:46421400-46422800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:46421400-46422800	Enhancers	Fetal Thymus	thymus
18	chr3:46421400-46423000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:46421400-46423400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:46421400-46426000	Enhancers	Fetal Lung	lung
21	chr3:46421600-46422200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:46421600-46422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:46421600-46422400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:46421600-46422400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:46421600-46422600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:46421600-46423000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:46421600-46423000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:46421600-46423000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:46421600-46423000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:46421600-46423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:46421600-46423000	Enhancers	Brain Anterior Caudate	brain
34	chr3:46421600-46424000	Enhancers	Fetal Brain Male	brain
35	chr3:46421800-46422200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:46421800-46422600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:46421800-46423000	Enhancers	Primary T cells from cord blood	blood
38	chr3:46421800-46423000	Enhancers	Primary hematopoietic stem cells	blood
39	chr3:46421800-46425000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:46422000-46422200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr3:46422000-46422200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:46422000-46422200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:46422000-46422200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr3:46422000-46422200	Flanking Active TSS	HSMM	muscle
45	chr3:46422000-46422200	Enhancers	HSMMtube	muscle
46	chr3:46422000-46422200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:46422000-46422400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:46422000-46422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:46422000-46422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:46422000-46422400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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