Variant report

Variant	rs547822446
Chromosome Location	chr3:141741543-141741544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141736074..141738288-chr3:141741449..141743046,2	K562	blood:
2	chr3:141739542..141742444-chr3:142003603..142005533,2	K562	blood:
3	chr3:141740917..141741877-chr3:141764906..141765846,2	K562	blood:
4	chr3:141738796..141742970-chr3:141745258..141748964,7	K562	blood:
5	chr3:141740878..141741732-chr3:141899625..141900228,2	MCF-7	breast:
6	chr3:141739963..141741863-chr3:141746607..141749166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114126	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877554	chr3:141735532-141781890	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv877555	chr3:141740076-141791408	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:141683800-141746600	Weak transcription	Lung	lung
5	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
6	chr3:141708600-141745200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:141716000-141745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:141720200-141746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:141720400-141742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:141722600-141745400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:141723400-141745400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:141723400-141745400	Weak transcription	Fetal Kidney	kidney
13	chr3:141724400-141745000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:141728200-141746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:141731400-141745400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:141733200-141746200	Weak transcription	Adipose Nuclei	Adipose
17	chr3:141733400-141745800	Weak transcription	Fetal Stomach	stomach
18	chr3:141733400-141746600	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:141733600-141747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:141734000-141745400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:141734200-141745400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:141734600-141746200	Weak transcription	NH-A	brain
23	chr3:141735000-141746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:141735800-141746200	Weak transcription	Right Ventricle	heart
25	chr3:141737800-141746200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:141738200-141742000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:141738200-141742600	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:141738400-141741600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:141738600-141742400	Genic enhancers	Dnd41	blood
30	chr3:141739000-141745400	Weak transcription	NHEK	skin
31	chr3:141739000-141745600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:141739000-141746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:141739000-141746400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:141739200-141742800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:141739200-141745400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:141739200-141745400	Weak transcription	Primary T cells from cord blood	blood
37	chr3:141739200-141747200	Weak transcription	Small Intestine	intestine
38	chr3:141739400-141741600	Enhancers	Fetal Heart	heart
39	chr3:141739400-141741600	Enhancers	Fetal Intestine Small	intestine
40	chr3:141739400-141742800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:141739400-141745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:141739400-141745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:141739400-141745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:141739400-141745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:141739400-141746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:141739800-141742200	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:141739800-141746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:141739800-141746200	Weak transcription	Left Ventricle	heart
49	chr3:141739800-141746200	Weak transcription	Right Atrium	heart
50	chr3:141739800-141746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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