Variant report

Variant	rs397713690
Chromosome Location	chr3:49721542-49721543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49710552..49715225-chr3:49718907..49727364,14	MCF-7	breast:
2	chr3:49720877..49722933-chr3:49723247..49725096,3	K562	blood:
3	chr3:49719726..49722448-chr3:49723596..49725872,2	K562	blood:

Variant related genes	Relation type
ENSG00000173531	Chromatin interaction
ENSG00000164062	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1825898	chr3:49688948-49764849	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 target site	53 gene(s)	inside rSNPs	diseases
4	esv1808511	chr3:49689880-49744825	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv820990	chr3:49720651-49735911	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv12377	chr3:49720751-49735851	Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv11877	chr3:49721171-49727086	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv471425	chr3:49721381-49726196	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv482080	chr3:49721381-49726196	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv822077	chr3:49721400-49734526	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49712200-49723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49712800-49722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:49712800-49722200	Strong transcription	Fetal Stomach	stomach
4	chr3:49712800-49723600	Weak transcription	Right Atrium	heart
5	chr3:49712800-49726200	Weak transcription	Small Intestine	intestine
6	chr3:49713000-49721600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:49713000-49721600	Strong transcription	Brain Substantia Nigra	brain
8	chr3:49713000-49721600	Strong transcription	NHLF	lung
9	chr3:49713000-49722000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:49713000-49722000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr3:49713000-49722200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:49713000-49722400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr3:49713000-49722400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:49713000-49722600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:49713000-49722800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:49713000-49722800	Strong transcription	Thymus	Thymus
17	chr3:49713000-49723200	Weak transcription	Stomach Mucosa	stomach
18	chr3:49713000-49723400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:49713000-49723800	Weak transcription	Fetal Heart	heart
20	chr3:49713200-49721600	Strong transcription	Rectal Smooth Muscle	rectum
21	chr3:49713200-49721800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:49713200-49721800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:49713200-49722000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:49713200-49722000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr3:49713200-49722000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:49713200-49722200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:49713200-49722200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:49713200-49722200	Strong transcription	Placenta	Placenta
29	chr3:49713200-49722400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:49713200-49722400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:49713200-49722400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:49713200-49722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:49713200-49722400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:49713200-49722600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:49713200-49722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:49713200-49722600	Strong transcription	Brain Germinal Matrix	brain
37	chr3:49713200-49722800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:49713200-49723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:49713200-49723000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:49713400-49721600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:49713400-49721600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:49713400-49721600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:49713400-49721600	Strong transcription	Fetal Lung	lung
44	chr3:49713400-49722000	Strong transcription	Brain Anterior Caudate	brain
45	chr3:49713400-49722000	Strong transcription	HMEC	breast
46	chr3:49713400-49722200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:49713400-49722200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:49713400-49722400	Strong transcription	Adipose Nuclei	Adipose
49	chr3:49713400-49722400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr3:49713400-49722400	Strong transcription	Fetal Brain Female	brain

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