Variant report

Variant	rs554517361
Chromosome Location	chr3:158289796-158289797
allele	A/G
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	MAX	chr3:158288657-158290566	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr3:158289720-158290582	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr3:158288648-158290616	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
4	MAX	chr3:158289774-158290579	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr3:158289647-158290580	K562	blood:	n/a	n/a
6	MAX	chr3:158289726-158290476	K562	blood:	n/a	n/a
7	E2F6	chr3:158288630-158291153	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
8	POLR2A	chr3:158288629-158290805	K562	blood:	n/a	n/a
9	EGR1	chr3:158289768-158290009	K562	blood:	n/a	n/a
10	MAX	chr3:158289764-158290144	K562	blood:	n/a	n/a
11	CBX3	chr3:158289746-158290237	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:158257580..158259389-chr3:158289106..158290845,2	K562	blood:
2	chr3:158284750..158291147-chr3:158359832..158364955,8	K562	blood:
3	chr3:158257580..158259170-chr3:158289106..158290622,2	K562	blood:
4	chr3:158289477..158292573-chr3:158361739..158363921,4	K562	blood:

Variant related genes	Relation type
ENSG00000243150	TF binding region
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3327979	chr3:158288708-158291006	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158288200-158290000	Active TSS	Brain Substantia Nigra	brain
2	chr3:158288200-158290200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:158288200-158290600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:158288400-158289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:158288400-158290000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr3:158288400-158290000	Active TSS	Brain Germinal Matrix	brain
7	chr3:158288400-158290000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:158288400-158290200	Active TSS	Right Ventricle	heart
9	chr3:158288400-158290400	Active TSS	Fetal Kidney	kidney
10	chr3:158288400-158292000	Active TSS	Right Atrium	heart
11	chr3:158288600-158289800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:158288600-158289800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:158288600-158290000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:158288600-158290000	Active TSS	Brain Angular Gyrus	brain
15	chr3:158288600-158290000	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:158288600-158290000	Active TSS	Fetal Brain Female	brain
17	chr3:158288600-158290000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr3:158288600-158290600	Active TSS	Left Ventricle	heart
19	chr3:158288800-158289800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:158288800-158289800	Active TSS	A549	lung
21	chr3:158288800-158289800	Active TSS	HMEC	breast
22	chr3:158288800-158289800	Active TSS	HSMM	muscle
23	chr3:158288800-158290200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:158288800-158290200	Active TSS	Fetal Lung	lung
25	chr3:158288800-158290400	Active TSS	Colon Smooth Muscle	Colon
26	chr3:158288800-158291000	Active TSS	Brain Anterior Caudate	brain
27	chr3:158288800-158291000	Active TSS	Fetal Heart	heart
28	chr3:158289200-158289800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:158289400-158289800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:158289400-158289800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:158289400-158289800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:158289400-158290000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:158289400-158290000	Weak transcription	Lung	lung
34	chr3:158289400-158291000	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:158289600-158289800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:158289600-158289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:158289600-158289800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr3:158289600-158289800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr3:158289600-158289800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:158289600-158289800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:158289600-158289800	Active TSS	Adipose Nuclei	Adipose
42	chr3:158289600-158289800	Active TSS	Colonic Mucosa	Colon
43	chr3:158289600-158289800	Active TSS	Fetal Stomach	stomach
44	chr3:158289600-158289800	Active TSS	Pancreas	Pancrea
45	chr3:158289600-158289800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr3:158289600-158289800	Active TSS	Osteobl	bone
47	chr3:158289600-158290000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:158289600-158290000	Active TSS	Fetal Muscle Leg	muscle
49	chr3:158289600-158290200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:158289600-158290200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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