Variant report

Variant	rs552578391
Chromosome Location	chr7:2918276-2918277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv887317	chr7:2911972-2944187	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv971481	chr7:2913356-2925013	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3353717	chr7:2917626-2921024	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv3391477	chr7:2917826-2921024	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
4	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:2913000-2918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
11	chr7:2913400-2918600	Weak transcription	Spleen	Spleen
12	chr7:2913600-2919000	Weak transcription	Fetal Kidney	kidney
13	chr7:2914800-2918600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:2916000-2918600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:2916000-2918800	Weak transcription	Brain Germinal Matrix	brain
16	chr7:2916200-2919600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:2916200-2919600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:2916200-2919600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:2916200-2920000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:2916400-2918600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:2916400-2918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:2916400-2918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:2916400-2920400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:2916400-2921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:2916600-2919600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:2916600-2920000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:2916600-2920200	Weak transcription	HMEC	breast
28	chr7:2916800-2920000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:2917200-2919800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:2917600-2920200	Enhancers	Fetal Thymus	thymus
31	chr7:2917800-2918600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:2917800-2918800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:2917800-2919200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:2917800-2919400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr7:2917800-2919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:2917800-2919600	Enhancers	Primary T cells from cord blood	blood
37	chr7:2917800-2919600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:2917800-2919600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:2917800-2919600	Enhancers	Dnd41	blood
40	chr7:2917800-2919800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:2917800-2920400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:2918000-2918600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:2918000-2918800	Enhancers	GM12878-XiMat	blood
44	chr7:2918000-2919000	Enhancers	Thymus	Thymus
45	chr7:2918000-2919000	Enhancers	HUVEC	blood vessel
46	chr7:2918000-2919200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:2918000-2919200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:2918000-2919200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:2918000-2920200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:2918000-2923400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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