Variant report

Variant	rs540104116
Chromosome Location	chr1:93200502-93200503
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	chr1:93199006..93201048-chr1:93203256..93205414,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	esv3340706	chr1:93187980-93207933	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3411328	chr1:93200439-93202512	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123600-93213400	Weak transcription	Gastric	stomach
3	chr1:93155800-93213400	Weak transcription	Lung	lung
4	chr1:93174400-93202000	Weak transcription	Fetal Heart	heart
5	chr1:93186600-93205600	Weak transcription	Ovary	ovary
6	chr1:93186800-93213400	Weak transcription	K562	blood
7	chr1:93188400-93202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:93188400-93205400	Weak transcription	Small Intestine	intestine
9	chr1:93188600-93203800	Weak transcription	HMEC	breast
10	chr1:93188800-93201000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:93189000-93203800	Weak transcription	Hela-S3	cervix
12	chr1:93189000-93213400	Weak transcription	Fetal Lung	lung
13	chr1:93189400-93204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:93189400-93206000	Weak transcription	Brain Anterior Caudate	brain
15	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:93190200-93220000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:93192400-93221200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
20	chr1:93193000-93200600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:93193000-93203800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:93193600-93200600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:93193600-93213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:93194600-93200600	Weak transcription	HSMM	muscle
26	chr1:93194600-93207400	Weak transcription	Osteobl	bone
27	chr1:93194600-93218000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:93195000-93201200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:93195000-93218000	Weak transcription	NHEK	skin
30	chr1:93196000-93202000	Weak transcription	Aorta	Aorta
31	chr1:93196200-93202400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:93196200-93203000	Weak transcription	HSMMtube	muscle
33	chr1:93196200-93213400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:93197600-93200600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:93197600-93210800	Weak transcription	Placenta	Placenta
36	chr1:93197800-93201000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:93198000-93200600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:93198000-93204000	Weak transcription	HUVEC	blood vessel
39	chr1:93198000-93205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:93198200-93200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:93198200-93202600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:93198200-93205000	Weak transcription	Primary B cells from cord blood	blood
43	chr1:93198200-93209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:93199000-93201000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:93199000-93201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:93199000-93202400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:93199200-93201000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:93199200-93201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:93199200-93202200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:93199400-93201000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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