Variant report

Variant	rs527612173
Chromosome Location	chr3:46420007-46420008
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45979997..45980877-chr3:46419945..46420540,2	K562	blood:

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

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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46396000-46422000	Weak transcription	Lung	lung
2	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
3	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
4	chr3:46411400-46422000	Weak transcription	Small Intestine	intestine
5	chr3:46414800-46422000	Weak transcription	Esophagus	oesophagus
6	chr3:46417000-46422200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:46417200-46421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:46417400-46421600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:46417400-46422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:46417600-46421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:46417600-46421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:46417600-46422000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:46417600-46422000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:46417600-46422000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:46417600-46422000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:46417600-46422000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:46417800-46421600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:46417800-46421600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:46418000-46422000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:46418400-46421600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:46418400-46421600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:46418400-46421800	Weak transcription	Primary T cells from cord blood	blood
23	chr3:46418400-46421800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:46418400-46422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:46418400-46422000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:46418600-46421600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:46418600-46421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:46419200-46420200	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:46419800-46420200	Enhancers	Fetal Lung	lung
30	chr3:46419800-46420400	Enhancers	HMEC	breast
31	chr3:46420000-46420200	Enhancers	Primary B cells from cord blood	blood
32	chr3:46420000-46420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:46420000-46420200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:46420000-46420200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:46420000-46420200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr3:46420000-46420200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:46420000-46420200	Enhancers	Stomach Mucosa	stomach
38	chr3:46420000-46420200	Enhancers	GM12878-XiMat	blood
39	chr3:46420000-46420400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:46420000-46420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:46420000-46420400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:46420000-46420400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:46420000-46420400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:46420000-46420400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:46420000-46420400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:46420000-46420400	Enhancers	Adipose Nuclei	Adipose
47	chr3:46420000-46420400	Enhancers	Liver	Liver
48	chr3:46420000-46420400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:46420000-46420400	Enhancers	Fetal Thymus	thymus
50	chr3:46420000-46420400	Enhancers	Sigmoid Colon	Sigmoid Colon

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