Variant report

Variant	rs543371128
Chromosome Location	chr1:211804868-211804869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211802788..211806999-chr1:211814684..211819078,4	K562	blood:
2	chr1:211804616..211806935-chr1:211847772..211850584,2	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211793145..211800078-chr1:211800841..211805263,11	K562	blood:
5	chr1:211741510..211743942-chr1:211802313..211805190,2	K562	blood:
6	chr1:211751888..211754442-chr1:211802354..211807016,4	K562	blood:
7	chr1:211750004..211752900-chr1:211803932..211806097,2	MCF-7	breast:
8	chr1:211723836..211726328-chr1:211802302..211805262,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000117650	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211800000-211807200	Enhancers	Fetal Heart	heart
2	chr1:211802000-211806400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:211803400-211805000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:211803400-211805000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:211803400-211806000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:211803400-211807000	Enhancers	Ovary	ovary
7	chr1:211803400-211807600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211803400-211807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:211803600-211805000	Enhancers	Fetal Lung	lung
10	chr1:211803600-211807200	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:211803600-211807200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:211803800-211807600	Enhancers	Fetal Thymus	thymus
13	chr1:211804000-211805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:211804000-211805000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:211804000-211805600	Weak transcription	HMEC	breast
16	chr1:211804000-211806400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:211804000-211806400	Weak transcription	Gastric	stomach
18	chr1:211804000-211806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211804200-211805600	Weak transcription	Esophagus	oesophagus
20	chr1:211804200-211805600	Weak transcription	NH-A	brain
21	chr1:211804200-211805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:211804200-211805800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:211804200-211806400	Weak transcription	A549	lung
24	chr1:211804200-211807200	Enhancers	Right Atrium	heart
25	chr1:211804200-211807200	Enhancers	Right Ventricle	heart
26	chr1:211804200-211807600	Enhancers	Left Ventricle	heart
27	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:211804400-211805200	Bivalent Enhancer	NHEK	skin
30	chr1:211804400-211805400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:211804400-211805800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:211804400-211805800	Weak transcription	Lung	lung
33	chr1:211804400-211806200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:211804400-211806200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:211804400-211806400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:211804400-211807400	Enhancers	Spleen	Spleen
37	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
38	chr1:211804600-211805400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:211804800-211805000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:211804800-211805800	Weak transcription	Placenta	Placenta
41	chr1:211804800-211806000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:211804800-211806000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:211804800-211806200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:211804800-211806400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:211804800-211806400	Enhancers	HepG2	liver
46	chr1:211804800-211806400	Enhancers	K562	blood

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