Variant report

Variant	rs192207757
Chromosome Location	chr1:93548437-93548438
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93544774..93547373-chr1:93547671..93549530,3	K562	blood:
2	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
3	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:
4	chr1:93546586..93549487-chr1:93625233..93628392,3	K562	blood:

Variant related genes	Relation type
ENSG00000143033	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv508404	chr1:93547383-93580012	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93549000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
4	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
5	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
6	chr1:93545800-93568000	Weak transcription	Gastric	stomach
7	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
8	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
10	chr1:93546200-93549000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
13	chr1:93546400-93548800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:93546400-93549200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:93546400-93550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:93546400-93551000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:93546400-93553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
19	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
20	chr1:93546400-93569400	Weak transcription	Ovary	ovary
21	chr1:93546600-93550400	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr1:93546600-93559000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:93546800-93556800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:93547000-93550800	Weak transcription	Fetal Stomach	stomach
25	chr1:93547200-93549000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:93547200-93549000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:93547200-93549200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:93547200-93553200	Weak transcription	Fetal Heart	heart
29	chr1:93547200-93559000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:93547400-93548600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr1:93547400-93548600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:93547400-93549400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:93547400-93549400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:93547400-93549600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:93547400-93551000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:93547400-93551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:93547400-93551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:93547400-93552000	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:93547600-93548600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:93547600-93548600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:93547600-93548600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:93547600-93548600	Enhancers	NH-A	brain
45	chr1:93547600-93548800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:93547600-93548800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:93547600-93548800	Weak transcription	Fetal Lung	lung
48	chr1:93547600-93549000	Enhancers	Primary B cells from cord blood	blood
49	chr1:93547600-93549000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:93547600-93549200	Weak transcription	Fetal Brain Male	brain

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