Variant report

Variant	rs530740797
Chromosome Location	chr1:92230883-92230884
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	chr1:92217896..92221069-chr1:92227993..92231134,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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
9	esv1826229	chr1:92215725-92233227	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers 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	15 gene(s)	inside rSNPs	diseases
15	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv988308	chr1:92227910-92236935	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3320420	chr1:92230064-92235262	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3502065	chr1:92230864-92234462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
4	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92215200-92232400	Weak transcription	A549	lung
6	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
7	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
9	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:92220400-92234000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:92222200-92231000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:92223800-92232000	Enhancers	K562	blood
15	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:92224800-92234400	Weak transcription	Right Ventricle	heart
17	chr1:92225200-92232000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:92225400-92234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:92226400-92231200	Enhancers	Fetal Heart	heart
22	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:92226800-92232000	Enhancers	Placenta	Placenta
24	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:92227200-92234600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:92227200-92234800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:92227800-92235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:92228400-92231200	Enhancers	Fetal Lung	lung
29	chr1:92228600-92235200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:92229200-92231200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:92229200-92232400	Genic enhancers	HepG2	liver
32	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
33	chr1:92229400-92235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:92230000-92231200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:92230000-92231200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:92230000-92231200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:92230000-92231200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92230000-92231200	Strong transcription	Fetal Stomach	stomach
39	chr1:92230000-92231200	Strong transcription	NHLF	lung
40	chr1:92230200-92231000	Enhancers	Hela-S3	cervix
41	chr1:92230200-92231200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:92230200-92231200	Enhancers	Pancreas	Pancrea
43	chr1:92230200-92231200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:92230200-92232800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:92230200-92234400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
47	chr1:92230400-92231000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:92230400-92231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:92230400-92231200	Enhancers	Ovary	ovary
50	chr1:92230400-92231200	Enhancers	Psoas Muscle	Psoas

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