Variant report

Variant	rs111211581
Chromosome Location	chr3:158289597-158289598
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	MAX	chr3:158288657-158290566	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr3:158288700-158289608	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
3	MAX	chr3:158288584-158289753	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr3:158288780-158289697	HEK293-T-REx	kidney:	n/a	n/a
5	E2F6	chr3:158288503-158289660	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
6	E2F6	chr3:158288648-158290616	H1-hESC	embryonic stem cell:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
7	POLR2A	chr3:158288657-158289723	MCF-7	breast:	n/a	n/a
8	MAX	chr3:158288572-158289630	MCF-7	breast:	n/a	n/a
9	MAX	chr3:158288371-158289667	A549	lung:	n/a	n/a
10	MAZ	chr3:158288637-158289672	IMR90	lung:	n/a	n/a
11	CBX3	chr3:158288527-158289669	K562	blood:	n/a	n/a
12	MAX	chr3:158289181-158289675	K562	blood:	n/a	n/a
13	MAX	chr3:158288455-158289656	HCT-116	colon:	n/a	n/a
14	E2F6	chr3:158288630-158291153	K562	blood:	n/a	chr3:158288898-158288907 chr3:158288900-158288909
15	MAX	chr3:158288498-158289653	HCT-116	colon:	n/a	n/a
16	POLR2A	chr3:158289424-158289614	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr3:158288654-158289659	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr3:158288629-158290805	K562	blood:	n/a	n/a
19	MAX	chr3:158288610-158289667	K562	blood:	n/a	n/a
20	MAX	chr3:158288606-158289710	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr3:158288657-158289696	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr3:158288371-158289635	A549	lung:	n/a	n/a
23	MYC	chr3:158289373-158289700	MCF-7	breast:	n/a	n/a
24	MXI1	chr3:158288318-158289697	SK-N-SH	brain:	n/a	chr3:158288859-158288874 chr3:158288857-158288872

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158288200-158289600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:158288200-158290000	Active TSS	Brain Substantia Nigra	brain
3	chr3:158288200-158290200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:158288200-158290600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:158288400-158289600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:158288400-158289600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:158288400-158289600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:158288400-158289600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr3:158288400-158289600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr3:158288400-158289600	Active TSS	Psoas Muscle	Psoas
11	chr3:158288400-158289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:158288400-158290000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr3:158288400-158290000	Active TSS	Brain Germinal Matrix	brain
14	chr3:158288400-158290000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr3:158288400-158290200	Active TSS	Right Ventricle	heart
16	chr3:158288400-158290400	Active TSS	Fetal Kidney	kidney
17	chr3:158288400-158292000	Active TSS	Right Atrium	heart
18	chr3:158288600-158289600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr3:158288600-158289600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:158288600-158289600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:158288600-158289600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr3:158288600-158289600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr3:158288600-158289600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:158288600-158289600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
29	chr3:158288600-158289600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr3:158288600-158289600	Active TSS	Stomach Smooth Muscle	stomach
31	chr3:158288600-158289600	Active TSS	HSMMtube	muscle
32	chr3:158288600-158289600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr3:158288600-158289800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr3:158288600-158289800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:158288600-158290000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:158288600-158290000	Active TSS	Brain Angular Gyrus	brain
37	chr3:158288600-158290000	Active TSS	Brain Cingulate Gyrus	brain
38	chr3:158288600-158290000	Active TSS	Fetal Brain Female	brain
39	chr3:158288600-158290000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:158288600-158290600	Active TSS	Left Ventricle	heart
41	chr3:158288800-158289600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:158288800-158289600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:158288800-158289600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:158288800-158289600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:158288800-158289600	Active TSS	Rectal Smooth Muscle	rectum
46	chr3:158288800-158289600	Active TSS	NHDF-Ad	bronchial
47	chr3:158288800-158289800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:158288800-158289800	Active TSS	A549	lung
49	chr3:158288800-158289800	Active TSS	HMEC	breast
50	chr3:158288800-158289800	Active TSS	HSMM	muscle

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