Variant report

Variant	rs75508716
Chromosome Location	chr1:92766316-92766317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92751701..92754444-chr1:92763776..92766491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92762800-92767200	Active TSS	GM12878-XiMat	blood
2	chr1:92763200-92766800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:92765000-92766600	Flanking Active TSS	Dnd41	blood
4	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
6	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
7	chr1:92765400-92767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:92765400-92769400	Weak transcription	Placenta	Placenta
9	chr1:92765400-92772200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:92765600-92766400	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:92765600-92766400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:92765600-92766600	Enhancers	Brain Germinal Matrix	brain
13	chr1:92765600-92766800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:92765600-92766800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:92765600-92766800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:92765600-92767200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:92765600-92767200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:92765600-92767800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:92765600-92768400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:92765600-92768800	Weak transcription	HSMM	muscle
21	chr1:92765600-92769400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:92765600-92769600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:92765600-92770000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:92765600-92770000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:92765600-92770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:92765600-92770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:92765600-92770200	Weak transcription	Colonic Mucosa	Colon
28	chr1:92765600-92770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:92765600-92770200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:92765600-92772200	Weak transcription	Left Ventricle	heart
31	chr1:92765600-92775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:92765600-92777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:92765600-92778400	Weak transcription	Fetal Stomach	stomach
34	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
35	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:92765600-92791800	Weak transcription	Lung	lung
38	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
39	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
40	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
42	chr1:92765800-92766400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:92765800-92766400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:92765800-92766400	Enhancers	NHEK	skin
45	chr1:92765800-92766400	Enhancers	Osteobl	bone
46	chr1:92765800-92766600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:92765800-92766600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:92765800-92766800	Enhancers	Primary T cells from cord blood	blood
49	chr1:92765800-92766800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:92765800-92766800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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