Variant report

Variant	rs147514379
Chromosome Location	chr3:135683886-135683887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:135683801-135686083	SK-N-SH	brain:	n/a	n/a
2	MAZ	chr3:135683774-135685840	IMR90	lung:	n/a	n/a
3	SP1	chr3:135683876-135685271	HCT-116	colon:	n/a	chr3:135685151-135685165 chr3:135685150-135685162 chr3:135685151-135685160 chr3:135685151-135685160 chr3:135685152-135685161
4	SP1	chr3:135683878-135685270	HCT-116	colon:	n/a	chr3:135685151-135685165 chr3:135685150-135685162 chr3:135685151-135685160 chr3:135685151-135685160 chr3:135685152-135685161
5	E2F4	chr3:135683874-135684734	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135683335..135686243-chr3:135740274..135744209,4	MCF-7	breast:
2	chr3:135678002..135681918-chr3:135682555..135686339,5	MCF-7	breast:

Variant related genes	Relation type
PPP2R3A	TF binding region
ENSG00000241905	Chromatin interaction
ENSG00000073711	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3374702	chr3:135649303-135686527	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3393718	chr3:135683487-135686235	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135682400-135684000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr3:135682600-135684000	Enhancers	Fetal Intestine Small	intestine
3	chr3:135682800-135684000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr3:135682800-135684200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:135682800-135684600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:135683000-135684000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:135683000-135684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:135683000-135684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:135683000-135684000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:135683000-135684000	Enhancers	Fetal Muscle Leg	muscle
11	chr3:135683000-135684200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:135683000-135684200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:135683000-135685800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr3:135683200-135684000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:135683200-135684000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:135683200-135684000	Enhancers	Liver	Liver
17	chr3:135683200-135684000	Enhancers	Brain Hippocampus Middle	brain
18	chr3:135683200-135684000	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:135683200-135684000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:135683200-135684000	Enhancers	Fetal Heart	heart
21	chr3:135683200-135684000	Enhancers	Fetal Intestine Large	intestine
22	chr3:135683200-135684000	Enhancers	Right Ventricle	heart
23	chr3:135683200-135684200	Enhancers	Stomach Mucosa	stomach
24	chr3:135683400-135684000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:135683400-135684000	Enhancers	Pancreas	Pancrea
26	chr3:135683400-135684000	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:135683400-135684000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr3:135683400-135684200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr3:135683400-135684400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:135683600-135684200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:135683800-135684000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:135683800-135684000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr3:135683800-135684000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:135683800-135684000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr3:135683800-135684000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:135683800-135684000	Weak transcription	Brain Angular Gyrus	brain
37	chr3:135683800-135684000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:135683800-135684000	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr3:135683800-135684000	Enhancers	Fetal Brain Female	brain
40	chr3:135683800-135684000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:135683800-135684000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:135683800-135684000	Enhancers	NHEK	skin
43	chr3:135683800-135684200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr3:135683800-135684200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:135683800-135684200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr3:135683800-135684200	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr3:135683800-135684200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:135683800-135685000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
49	chr3:135683800-135685000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
50	chr3:135683800-135685800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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