Variant report

Variant	rs539757823
Chromosome Location	chr3:119867344-119867345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119811328..119819569-chr3:119859303..119870611,43	MCF-7	breast:
2	chr3:119865007..119867802-chr3:119897494..119899931,3	MCF-7	breast:
3	chr3:119854307..119856524-chr3:119867161..119869039,2	MCF-7	breast:
4	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
5	chr3:119847797..119849644-chr3:119865497..119868433,2	MCF-7	breast:
6	chr3:119865823..119868383-chr3:119871262..119874013,2	MCF-7	breast:
7	chr3:119829682..119832031-chr3:119864501..119867434,2	MCF-7	breast:
8	chr3:119809272..119819238-chr3:119861129..119869186,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119862000-119867800	Enhancers	Placenta	Placenta
2	chr3:119862600-119868000	Enhancers	HMEC	breast
3	chr3:119863000-119867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:119863400-119867600	Enhancers	Fetal Intestine Small	intestine
5	chr3:119864200-119868000	Enhancers	Fetal Intestine Large	intestine
6	chr3:119864600-119871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:119864800-119871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119865000-119870800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:119865000-119870800	Weak transcription	Osteobl	bone
10	chr3:119865200-119867800	Enhancers	Hela-S3	cervix
11	chr3:119865200-119870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:119865600-119868400	Enhancers	Primary T cells from cord blood	blood
13	chr3:119865600-119868400	Enhancers	Fetal Thymus	thymus
14	chr3:119865600-119868600	Enhancers	Thymus	Thymus
15	chr3:119865600-119868600	Enhancers	Dnd41	blood
16	chr3:119865800-119867800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:119866000-119867600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:119866000-119867600	Enhancers	Small Intestine	intestine
19	chr3:119866000-119867800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:119866000-119867800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:119866000-119867800	Enhancers	Adipose Nuclei	Adipose
22	chr3:119866000-119867800	Enhancers	Fetal Lung	lung
23	chr3:119866000-119867800	Enhancers	Left Ventricle	heart
24	chr3:119866000-119867800	Enhancers	HUVEC	blood vessel
25	chr3:119866200-119867600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:119866200-119868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:119866200-119868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:119866400-119867400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:119866400-119867600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr3:119866400-119867600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:119866400-119867600	Enhancers	Fetal Muscle Leg	muscle
32	chr3:119866400-119867800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:119866400-119868000	Enhancers	GM12878-XiMat	blood
34	chr3:119866400-119868400	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:119866400-119868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:119866600-119867800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:119866600-119870800	Weak transcription	NHDF-Ad	bronchial
38	chr3:119866600-119871400	Weak transcription	Lung	lung
39	chr3:119866800-119867400	Weak transcription	Spleen	Spleen
40	chr3:119866800-119867600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:119866800-119867800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:119866800-119867800	Enhancers	HepG2	liver
43	chr3:119866800-119871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:119867000-119867400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:119867000-119870800	Weak transcription	Stomach Mucosa	stomach
46	chr3:119867000-119872000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:119867200-119867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:119867200-119867800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:119867200-119867800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:119867200-119869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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