Variant report

Variant	rs577189007
Chromosome Location	chr2:74230988-74230989
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: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	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
2	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
3	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
4	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
5	chr2:74230957..74233519-chr2:74346140..74348157,2	K562	blood:
6	chr2:74230663..74232784-chr2:74237198..74239379,3	K562	blood:
7	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
8	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000257800	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3436825	chr2:74228469-74231017	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3394982	chr2:74229169-74232017	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
2	chr2:74228800-74231000	Weak transcription	Small Intestine	intestine
3	chr2:74228800-74231200	Active TSS	Psoas Muscle	Psoas
4	chr2:74229200-74231000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:74229200-74231000	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:74229200-74231000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:74229400-74231000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:74229400-74231000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:74229400-74231000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:74229400-74231000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:74229400-74231000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:74229400-74231000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:74229400-74231000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:74229400-74231000	Active TSS	Brain Angular Gyrus	brain
15	chr2:74229400-74231000	Active TSS	Brain Anterior Caudate	brain
16	chr2:74229400-74231000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:74229400-74231000	Active TSS	Brain Substantia Nigra	brain
18	chr2:74229400-74231000	Active TSS	Ovary	ovary
19	chr2:74229400-74231000	Active TSS	K562	blood
20	chr2:74229400-74231200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:74229400-74231200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:74229600-74231000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:74229600-74231000	Active TSS	HSMMtube	muscle
24	chr2:74229600-74231200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:74230000-74231000	Active TSS	Fetal Kidney	kidney
26	chr2:74230200-74231000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:74230200-74231200	Enhancers	Lung	lung
28	chr2:74230200-74231800	Flanking Active TSS	Osteobl	bone
29	chr2:74230400-74231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:74230400-74231000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:74230400-74231000	Enhancers	Primary B cells from cord blood	blood
32	chr2:74230400-74231000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:74230400-74231000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:74230400-74231000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:74230400-74231200	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:74230400-74231200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:74230400-74231200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:74230400-74231200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:74230400-74231200	Enhancers	Esophagus	oesophagus
40	chr2:74230400-74231200	Active TSS	Right Ventricle	heart
41	chr2:74230400-74231200	Enhancers	GM12878-XiMat	blood
42	chr2:74230400-74231400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:74230400-74231400	Enhancers	Colonic Mucosa	Colon
44	chr2:74230400-74231400	Enhancers	Pancreas	Pancrea
45	chr2:74230400-74231400	Weak transcription	Spleen	Spleen
46	chr2:74230400-74231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:74230400-74231600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74230400-74231600	Enhancers	Liver	Liver
49	chr2:74230400-74231600	Enhancers	A549	lung
50	chr2:74230400-74231800	Enhancers	Gastric	stomach

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