Variant report

Variant	rs78049722
Chromosome Location	chr1:168773202-168773203
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168771076..168773602-chr1:168775247..168778222,3	MCF-7	breast:
2	chr1:168769055..168770618-chr1:168773095..168775108,2	MCF-7	breast:
3	chr1:168765218..168767116-chr1:168771235..168774023,2	K562	blood:
4	chr1:168766068..168768003-chr1:168771621..168774193,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168769000-168773800	Enhancers	Fetal Intestine Large	intestine
2	chr1:168769200-168774600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:168770000-168773400	Weak transcription	A549	lung
4	chr1:168770600-168773400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:168771000-168773600	Enhancers	Stomach Mucosa	stomach
6	chr1:168771200-168773400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:168771200-168774200	Enhancers	Fetal Intestine Small	intestine
8	chr1:168771800-168774200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:168772400-168773400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:168772400-168773600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:168772800-168773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:168772800-168773400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:168772800-168773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:168773000-168773400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:168773000-168773400	Enhancers	Fetal Brain Female	brain
16	chr1:168773000-168773600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:168773000-168773800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:168773000-168773800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:168773000-168774200	Enhancers	Brain Angular Gyrus	brain
20	chr1:168773000-168774400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:168773200-168773400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:168773200-168773400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:168773200-168773600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:168773200-168773600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:168773200-168773600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr1:168773200-168773600	Enhancers	Brain Substantia Nigra	brain
27	chr1:168773200-168773600	Enhancers	Fetal Lung	lung
28	chr1:168773200-168773800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:168773200-168773800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:168773200-168773800	Enhancers	Gastric	stomach
31	chr1:168773200-168773800	Enhancers	Pancreas	Pancrea
32	chr1:168773200-168773800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:168773200-168773800	Enhancers	HepG2	liver
34	chr1:168773200-168774000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:168773200-168774200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:168773200-168774200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:168773200-168774400	Enhancers	Brain Germinal Matrix	brain

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