Variant report

Variant	rs529368172
Chromosome Location	chr1:94373713-94373714
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
2	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
3	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
4	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
5	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
6	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
7	chr1:94350854..94353775-chr1:94372233..94374131,2	K562	blood:
8	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
9	chr1:94310017..94313015-chr1:94371318..94373997,3	K562	blood:
10	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000117505	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	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3404764	chr1:94372564-94377162	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3426478	chr1:94373589-94376737	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
6	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
7	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
9	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
10	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
11	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:94362600-94373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
16	chr1:94362800-94374000	Weak transcription	Ovary	ovary
17	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:94367200-94373800	Weak transcription	Placenta	Placenta
19	chr1:94369200-94373800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:94369200-94373800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:94369400-94373800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:94369600-94373800	Weak transcription	Colonic Mucosa	Colon
23	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:94370200-94374000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:94370200-94374000	Weak transcription	Primary T cells from cord blood	blood
26	chr1:94370200-94374000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:94370600-94373800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:94370800-94374000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:94370800-94374000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:94370800-94375200	Active TSS	HMEC	breast
31	chr1:94371200-94374000	Weak transcription	Small Intestine	intestine
32	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94371400-94373800	Flanking Active TSS	HUVEC	blood vessel
34	chr1:94371600-94374000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:94371600-94374400	Flanking Active TSS	Liver	Liver
36	chr1:94372000-94374000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:94372200-94373800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94372400-94374400	Flanking Active TSS	Dnd41	blood
39	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:94372400-94375800	Active TSS	NHLF	lung
41	chr1:94372600-94373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:94372600-94374000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:94372600-94374000	Enhancers	Colon Smooth Muscle	Colon
44	chr1:94372600-94374000	Flanking Active TSS	Osteobl	bone
45	chr1:94372600-94374400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:94372800-94373800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:94372800-94374000	Flanking Active TSS	NHEK	skin
48	chr1:94372800-94376000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:94373000-94373800	Enhancers	Primary B cells from cord blood	blood
50	chr1:94373000-94373800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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