Variant report

Variant	rs138035000
Chromosome Location	chr3:48697329-48697330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48686766..48690063-chr3:48696074..48699163,3	MCF-7	breast:
2	chr3:48695950..48699824-chr3:48710158..48713070,3	K562	blood:
3	chr3:48678686..48681268-chr3:48696483..48698297,2	K562	blood:
4	chr3:48659070..48661619-chr3:48697247..48699239,2	K562	blood:
5	chr3:48678686..48683466-chr3:48696483..48700259,5	K562	blood:

Variant related genes	Relation type
ENSG00000008300	Chromatin interaction
ENSG00000263898	Chromatin interaction
ENSG00000183396	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv3359935	chr3:48696498-48699296	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48694000-48698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:48694200-48698400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:48694200-48698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:48694200-48698600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:48694200-48698600	Weak transcription	HSMMtube	muscle
6	chr3:48694200-48699000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:48694400-48697400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:48694400-48698200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:48694400-48698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:48694400-48698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:48694400-48698800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:48694400-48698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:48694400-48698800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:48694400-48698800	Weak transcription	HUVEC	blood vessel
15	chr3:48694600-48698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:48694600-48698800	Weak transcription	Brain Substantia Nigra	brain
17	chr3:48694800-48697400	Weak transcription	Esophagus	oesophagus
18	chr3:48694800-48697600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:48694800-48698600	Weak transcription	Left Ventricle	heart
20	chr3:48694800-48698800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:48694800-48698800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:48694800-48698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:48695000-48698200	Weak transcription	Pancreas	Pancrea
24	chr3:48695000-48698200	Weak transcription	Right Ventricle	heart
25	chr3:48695000-48698800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:48695400-48698600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:48695600-48698000	Genic enhancers	Brain Germinal Matrix	brain
28	chr3:48695600-48698200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:48695600-48698400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:48695600-48698400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:48695800-48698000	Strong transcription	Brain Anterior Caudate	brain
32	chr3:48695800-48698200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:48695800-48698400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:48695800-48698400	Strong transcription	Brain Cingulate Gyrus	brain
35	chr3:48696200-48697800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr3:48696200-48698400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:48696200-48698400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:48696200-48698600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:48696200-48698800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr3:48696400-48697400	Strong transcription	Fetal Brain Female	brain
41	chr3:48696400-48697600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:48696400-48697600	Strong transcription	Brain Angular Gyrus	brain
43	chr3:48696400-48698000	Strong transcription	HepG2	liver
44	chr3:48696400-48698400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:48696400-48698600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:48696600-48698600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:48696800-48697800	Strong transcription	A549	lung
48	chr3:48696800-48698000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:48696800-48698600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:48696800-48698600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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