Variant report

Variant	rs531689710
Chromosome Location	chr1:94373389-94373390
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:122 , 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	chr1:94345600-94373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:94345600-94373400	Weak transcription	Psoas Muscle	Psoas
9	chr1:94345600-94373400	Weak transcription	Stomach Mucosa	stomach
10	chr1:94345600-94373600	Weak transcription	Brain Germinal Matrix	brain
11	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:94354600-94373400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
14	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
15	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
16	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:94362600-94373400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:94362600-94373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
22	chr1:94362800-94373400	Weak transcription	Fetal Thymus	thymus
23	chr1:94362800-94374000	Weak transcription	Ovary	ovary
24	chr1:94366200-94373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:94367200-94373400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:94367200-94373800	Weak transcription	Placenta	Placenta
28	chr1:94369200-94373800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:94369200-94373800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:94369400-94373400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:94369400-94373800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:94369600-94373800	Weak transcription	Colonic Mucosa	Colon
33	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:94370200-94374000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:94370200-94374000	Weak transcription	Primary T cells from cord blood	blood
36	chr1:94370200-94374000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:94370600-94373600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:94370600-94373800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:94370800-94373400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:94370800-94373400	Weak transcription	Lung	lung
41	chr1:94370800-94373600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:94370800-94374000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:94370800-94374000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:94370800-94375200	Active TSS	HMEC	breast
45	chr1:94371000-94373600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:94371200-94374000	Weak transcription	Small Intestine	intestine
47	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:94371400-94373800	Flanking Active TSS	HUVEC	blood vessel
49	chr1:94371600-94374000	Weak transcription	Fetal Intestine Small	intestine
50	chr1:94371600-94374400	Flanking Active TSS	Liver	Liver

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