Variant report

Variant	rs368313416
Chromosome Location	chr3:119359166-119359167
allele	A/C
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	TCF12	chr3:119358323-119359353	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:119358613-119359270	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr3:119356390-119359464	SK-N-SH	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
4	NFIC	chr3:119356328-119359285	GM12878	blood:	n/a	n/a
5	NFIC	chr3:119358399-119359231	SK-N-SH	brain:	n/a	n/a
6	EP300	chr3:119358318-119359242	SK-N-SH	brain:	n/a	chr3:119358549-119358558
7	GATA3	chr3:119357621-119359298	SH-SY5Y	brain:	n/a	n/a
8	EP300	chr3:119355708-119359660	SK-N-SH	brain:	n/a	chr3:119358021-119358035 chr3:119358549-119358558 chr3:119357930-119357938 chr3:119356957-119356971 chr3:119356958-119356972
9	EP300	chr3:119358518-119359245	SK-N-SH_RA	brain:	n/a	chr3:119358549-119358558
10	TCF12	chr3:119356402-119359447	SK-N-SH	brain:	n/a	chr3:119357774-119357782
11	MXI1	chr3:119356499-119359364	SK-N-SH	brain:	n/a	n/a
12	EP300	chr3:119358647-119359227	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr3:119358874-119359169	SK-N-SH	brain:	n/a	n/a
14	JUND	chr3:119358312-119359237	SK-N-SH	brain:	n/a	chr3:119358550-119358558 chr3:119358549-119358558 chr3:119358575-119358587 chr3:119358551-119358558
15	JUND	chr3:119356288-119359356	SK-N-SH	brain:	n/a	chr3:119358550-119358558 chr3:119358549-119358558 chr3:119358575-119358587 chr3:119358551-119358558
16	GATA3	chr3:119356512-119359281	SK-N-SH	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
17	GATA2	chr3:119357518-119359232	SH-SY5Y	brain:	n/a	n/a
18	PBX3	chr3:119358372-119359220	SK-N-SH	brain:	n/a	n/a
19	REST	chr3:119359004-119359211	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000242052	TF binding region

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1796433	chr3:119350324-119360506	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1804126	chr3:119351398-119360506	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv527724	chr3:119353844-119361415	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv520805	chr3:119359045-119361415	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119341400-119364600	Weak transcription	Liver	Liver
2	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
4	chr3:119352600-119367000	Weak transcription	Ovary	ovary
5	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:119354800-119360400	Weak transcription	Lung	lung
7	chr3:119355400-119361000	Weak transcription	Pancreas	Pancrea
8	chr3:119356200-119360200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:119356200-119360800	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:119356800-119360800	Weak transcription	Aorta	Aorta
12	chr3:119356800-119361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:119356800-119364800	Weak transcription	Stomach Mucosa	stomach
14	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
16	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:119357200-119359200	Enhancers	NHDF-Ad	bronchial
18	chr3:119357200-119361800	Weak transcription	A549	lung
19	chr3:119357200-119383800	Weak transcription	Primary B cells from cord blood	blood
20	chr3:119357800-119360000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:119357800-119360200	Weak transcription	Psoas Muscle	Psoas
22	chr3:119357800-119360600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:119357800-119360800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:119357800-119360800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:119357800-119361800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:119357800-119366600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:119357800-119367000	Weak transcription	Fetal Intestine Large	intestine
28	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:119358000-119360200	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:119358000-119360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:119358000-119360400	Weak transcription	Fetal Stomach	stomach
32	chr3:119358000-119360800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:119358000-119360800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:119358000-119361000	Weak transcription	Right Ventricle	heart
35	chr3:119358000-119361000	Weak transcription	Spleen	Spleen
36	chr3:119358000-119361800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:119358000-119361800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:119358000-119361800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:119358000-119361800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:119358000-119361800	Weak transcription	NH-A	brain
41	chr3:119358000-119362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:119358000-119362000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:119358000-119371200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
45	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
46	chr3:119358200-119359400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:119358200-119361200	Weak transcription	NHLF	lung
48	chr3:119358200-119361400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:119358200-119361400	Weak transcription	HSMMtube	muscle
50	chr3:119358200-119361600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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