Variant report

Variant	rs527953178
Chromosome Location	chr1:94341677-94341678
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
2	chr1:94340857..94342610-chr1:94343304..94345726,2	K562	blood:
3	chr1:93811555..93814046-chr1:94339710..94342283,2	K562	blood:
4	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
5	chr1:94340793..94342610-chr1:94344226..94345915,2	K562	blood:
6	chr1:94340612..94342966-chr1:94406740..94409371,2	K562	blood:
7	chr1:94341311..94342954-chr1:94373735..94375805,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000023909	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	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	esv3325380	chr1:94340814-94342475	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3417654	chr1:94341407-94341891	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94329800-94343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94330600-94343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:94332400-94342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:94332800-94341800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:94332800-94341800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:94332800-94341800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:94332800-94343200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:94332800-94343200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:94333000-94342000	Strong transcription	Fetal Brain Female	brain
11	chr1:94333200-94343200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:94333600-94341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:94333800-94343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94334000-94341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:94334000-94341800	Strong transcription	Fetal Kidney	kidney
16	chr1:94334000-94341800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:94334000-94342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:94334000-94343000	Strong transcription	Fetal Thymus	thymus
19	chr1:94334000-94343400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:94334200-94341800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:94334200-94341800	Strong transcription	Brain Germinal Matrix	brain
22	chr1:94334200-94341800	Strong transcription	Rectal Smooth Muscle	rectum
23	chr1:94334200-94342000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:94334200-94343200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr1:94334200-94343200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr1:94334200-94343200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:94334200-94343200	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:94334200-94343400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:94334200-94343400	Strong transcription	Placenta	Placenta
30	chr1:94334400-94341800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:94334400-94341800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:94334400-94341800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:94334400-94341800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:94334400-94341800	Strong transcription	Fetal Lung	lung
35	chr1:94334400-94342000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr1:94334400-94342200	Strong transcription	Brain Substantia Nigra	brain
37	chr1:94334400-94343200	Strong transcription	NH-A	brain
38	chr1:94334400-94343400	Weak transcription	Fetal Heart	heart
39	chr1:94334600-94342000	Strong transcription	NHDF-Ad	bronchial
40	chr1:94334600-94342000	Strong transcription	Osteobl	bone
41	chr1:94334600-94342800	Strong transcription	Brain Hippocampus Middle	brain
42	chr1:94334600-94342800	Strong transcription	HSMM	muscle
43	chr1:94334600-94343000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:94334600-94343200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:94334600-94343200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:94334600-94343400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:94337000-94341800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:94337600-94341800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:94337600-94342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:94337800-94341800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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