Variant report

Variant	rs578003625
Chromosome Location	chr3:158288266-158288267
allele	C/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	chr3:158288266-158289563	IMR90	lung:	n/a	chr3:158288859-158288874 chr3:158288857-158288872
2	RFX5	chr3:158288241-158289510	SK-N-SH	brain:	n/a	chr3:158288858-158288873 chr3:158288855-158288870 chr3:158288859-158288868 chr3:158288856-158288870 chr3:158288858-158288873 chr3:158288858-158288873

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LXN-1	chr3:158287960-158288855	ENSG00000243150

Variant related genes	Relation type
MLF1	TF binding region
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1013242	chr3:158275578-158305894	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1013112	chr3:158280085-158301728	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1001944	chr3:158280085-158305210	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999408	chr3:158280085-158316431	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3462764	chr3:158287372-158288474	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	esv3462762	chr3:158287436-158288436	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	esv3462761	chr3:158287456-158288406	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	esv3462765	chr3:158287456-158288406	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	esv18632	chr3:158287531-158288286	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158284400-158288400	Weak transcription	NHEK	skin
2	chr3:158284600-158288400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:158284600-158288400	Weak transcription	Psoas Muscle	Psoas
4	chr3:158285000-158288400	Enhancers	Fetal Heart	heart
5	chr3:158286600-158288400	Weak transcription	HUVEC	blood vessel
6	chr3:158287600-158288400	Enhancers	Fetal Muscle Leg	muscle
7	chr3:158287600-158288400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:158287600-158288400	Enhancers	K562	blood
9	chr3:158287800-158288400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:158287800-158288400	Enhancers	Fetal Lung	lung
11	chr3:158287800-158288400	Weak transcription	Right Ventricle	heart
12	chr3:158287800-158288600	Weak transcription	Left Ventricle	heart
13	chr3:158288000-158288400	Enhancers	Brain Angular Gyrus	brain
14	chr3:158288000-158288400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:158288200-158288400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:158288200-158288400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:158288200-158288400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:158288200-158288400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:158288200-158288400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:158288200-158288400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:158288200-158288400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:158288200-158288400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:158288200-158288400	Enhancers	Fetal Brain Female	brain
24	chr3:158288200-158288400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:158288200-158288400	Enhancers	Fetal Stomach	stomach
26	chr3:158288200-158288400	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:158288200-158288400	Enhancers	A549	lung
28	chr3:158288200-158288400	Enhancers	NH-A	brain
29	chr3:158288200-158288400	Enhancers	NHLF	lung
30	chr3:158288200-158288600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr3:158288200-158288600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
32	chr3:158288200-158288600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:158288200-158288600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr3:158288200-158288600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:158288200-158288600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr3:158288200-158288600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:158288200-158288600	Enhancers	HMEC	breast
38	chr3:158288200-158288800	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr3:158288200-158288800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr3:158288200-158288800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr3:158288200-158289400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr3:158288200-158289600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:158288200-158290000	Active TSS	Brain Substantia Nigra	brain
44	chr3:158288200-158290200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:158288200-158290600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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