Variant report

Variant	rs566883178
Chromosome Location	chr1:92212021-92212022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92211221..92213860-chr1:92214321..92216295,2	K562	blood:
2	chr1:92207551..92212491-chr1:92212891..92216237,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197000-92215200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:92197200-92215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:92199200-92218600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:92199400-92219000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:92201200-92219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:92201400-92217600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:92203200-92212800	Weak transcription	Spleen	Spleen
10	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:92205000-92212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:92206200-92212400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:92206200-92213600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:92208800-92212600	Weak transcription	Lung	lung
16	chr1:92208800-92214800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:92209000-92212400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:92209000-92212400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:92209000-92212400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:92209200-92212400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:92209200-92212600	Weak transcription	NHLF	lung
22	chr1:92209200-92215600	Weak transcription	Osteobl	bone
23	chr1:92209200-92217000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:92209400-92212600	Weak transcription	Left Ventricle	heart
25	chr1:92209400-92213400	Weak transcription	Psoas Muscle	Psoas
26	chr1:92209600-92212200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:92209600-92212400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:92210200-92212200	Enhancers	NHEK	skin
29	chr1:92210400-92212200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:92210400-92213400	Enhancers	Fetal Lung	lung
31	chr1:92210600-92213600	Weak transcription	Right Ventricle	heart
32	chr1:92210800-92212600	Weak transcription	Placenta	Placenta
33	chr1:92211000-92212400	Genic enhancers	NHDF-Ad	bronchial
34	chr1:92211000-92212600	Weak transcription	Fetal Stomach	stomach
35	chr1:92211000-92215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:92211000-92215600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:92211200-92212400	Weak transcription	Ovary	ovary
38	chr1:92211200-92212400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:92211200-92213000	ZNF genes & repeats	A549	lung
40	chr1:92211200-92215000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:92211200-92215200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:92211200-92215800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:92211200-92216000	Weak transcription	Aorta	Aorta
44	chr1:92211400-92212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:92211400-92212400	Enhancers	HepG2	liver
46	chr1:92211400-92212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:92211400-92213000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:92211400-92213000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:92211400-92213600	Enhancers	Liver	Liver
50	chr1:92211400-92215400	Weak transcription	Small Intestine	intestine

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