Variant report

Variant	rs2286266
Chromosome Location	chr7:100004612-100004613
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	MYC	chr7:100004455-100004645	MCF10A-Er-Src	breast:	n/a	chr7:100004552-100004561
2	CTCF	chr7:100004520-100004670	HCM	heart:	n/a	n/a
3	CTCF	chr7:100004480-100004630	AG04450	lung:	n/a	chr7:100004512-100004525
4	SMC3	chr7:100004180-100005667	SK-N-SH	brain:	n/a	n/a
5	FOS	chr7:100004396-100004748	MCF10A-Er-Src	breast:	n/a	chr7:100004552-100004560
6	FOS	chr7:100004438-100004685	MCF10A-Er-Src	breast:	n/a	chr7:100004552-100004560
7	CTCF	chr7:100004540-100004690	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr7:100004250-100005774	SK-N-SH	brain:	n/a	chr7:100005371-100005379 chr7:100005366-100005384 chr7:100005361-100005382 chr7:100005443-100005450 chr7:100004512-100004525
9	CTCF	chr7:100004480-100004630	SAEC	small airway:	n/a	chr7:100004512-100004525
10	FOS	chr7:100004423-100004671	MCF10A-Er-Src	breast:	n/a	chr7:100004552-100004560
11	FOS	chr7:100004402-100004759	MCF10A-Er-Src	breast:	n/a	chr7:100004552-100004560

No.	Distal block	Cell Line	Cell type
1	chr7:100003082..100004948-chr7:100026027..100028163,2	MCF-7	breast:
2	chr7:100001865..100004155-chr7:100004575..100006403,2	K562	blood:
3	chr7:99998688..100005691-chr7:100025198..100032529,13	K562	blood:
4	chr7:100004091..100007847-chr7:100024893..100029911,8	MCF-7	breast:
5	chr7:100003193..100004969-chr7:100024981..100026698,2	K562	blood:
6	chr7:99998424..100001095-chr7:100003477..100005440,2	MCF-7	breast:
7	chr7:99999324..100001737-chr7:100003151..100006140,3	MCF-7	breast:

Variant related genes	Relation type
ZCWPW1	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2686810	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 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	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
4	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99995200-100005000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:99995600-100004800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:99995800-100005200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:99995800-100005200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:99996000-100006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:99996200-100007200	Weak transcription	Spleen	Spleen
12	chr7:99996200-100013800	Weak transcription	Fetal Stomach	stomach
13	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:99996400-100004800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:99996400-100005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:99996600-100004800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:99996600-100016800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:99996600-100017000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:99997000-100016000	Weak transcription	Ovary	ovary
20	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
21	chr7:99997800-100005000	Weak transcription	Thymus	Thymus
22	chr7:99998800-100008200	Weak transcription	Lung	lung
23	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
25	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
26	chr7:100000200-100004800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:100000200-100013000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:100000200-100016800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:100000200-100025400	Weak transcription	Liver	Liver
30	chr7:100001400-100009800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:100002800-100013200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:100004000-100005200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:100004000-100005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:100004200-100005200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:100004200-100005200	Enhancers	HSMM	muscle
37	chr7:100004200-100005200	Bivalent Enhancer	Osteobl	bone
38	chr7:100004200-100005400	Enhancers	Stomach Mucosa	stomach
39	chr7:100004200-100005400	Enhancers	HMEC	breast
40	chr7:100004200-100005600	Enhancers	Fetal Thymus	thymus
41	chr7:100004200-100010800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:100004400-100004800	Enhancers	HSMMtube	muscle
43	chr7:100004400-100005000	Bivalent Enhancer	K562	blood
44	chr7:100004400-100005200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:100004400-100005200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100004400-100005200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:100004400-100005400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:100004400-100005400	Enhancers	GM12878-XiMat	blood
49	chr7:100004400-100005400	Enhancers	NH-A	brain
50	chr7:100004600-100005200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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