Variant report

Variant	rs386716472
Chromosome Location	chr7:104618975-104618976
allele	C/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104502180..104504353-chr7:104618581..104620637,2	K562	blood:
2	chr7:104615466..104619404-chr7:104620250..104622785,4	MCF-7	breast:
3	chr7:104614363..104616334-chr7:104616963..104619418,2	MCF-7	breast:
4	chr7:104614411..104616151-chr7:104616345..104619508,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv516060	chr7:104618318-104622402	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
9	chr7:104604600-104620200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:104606600-104622000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:104608400-104623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104612600-104619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:104612800-104621400	Weak transcription	Liver	Liver
14	chr7:104613000-104619800	Weak transcription	Fetal Thymus	thymus
15	chr7:104614400-104621400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:104615000-104619600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:104615000-104619800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:104615000-104620800	Strong transcription	Primary B cells from cord blood	blood
19	chr7:104615000-104621000	Weak transcription	GM12878-XiMat	blood
20	chr7:104615200-104619000	Weak transcription	HMEC	breast
21	chr7:104615200-104619000	Weak transcription	NH-A	brain
22	chr7:104615200-104619200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:104615200-104619200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:104615200-104619400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:104615200-104619400	Weak transcription	HUVEC	blood vessel
26	chr7:104615200-104619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:104615200-104619800	Weak transcription	Right Ventricle	heart
28	chr7:104615200-104622000	Weak transcription	Fetal Heart	heart
29	chr7:104616200-104620600	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:104616200-104622800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:104616200-104623400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:104616400-104622800	Enhancers	NHDF-Ad	bronchial
33	chr7:104616800-104619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:104616800-104619200	Enhancers	Rectal Smooth Muscle	rectum
35	chr7:104616800-104620200	Enhancers	Brain Angular Gyrus	brain
36	chr7:104616800-104620400	Enhancers	Brain Hippocampus Middle	brain
37	chr7:104616800-104620400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:104616800-104620600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr7:104616800-104620600	Enhancers	NHLF	lung
40	chr7:104616800-104621400	Enhancers	Colon Smooth Muscle	Colon
41	chr7:104616800-104623400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:104616800-104623400	Enhancers	Adipose Nuclei	Adipose
43	chr7:104617200-104619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:104617200-104619000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:104617200-104619200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:104617200-104619600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:104617200-104620200	Enhancers	Brain Substantia Nigra	brain
48	chr7:104617200-104620600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:104617200-104621200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:104617200-104621200	Enhancers	Skeletal Muscle Male	skeletal muscle

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