Variant report

Variant	rs528060213
Chromosome Location	chr2:98289603-98289604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:98289603-98290667	K562	blood:	n/a	n/a
2	ELF1	chr2:98289603-98289887	K562	blood:	n/a	chr2:98289697-98289710

No.	Distal block	Cell Line	Cell type
1	chr2:98286306..98287909-chr2:98288768..98291732,2	MCF-7	breast:
2	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
3	chr2:98277540..98280673-chr2:98288354..98290107,4	K562	blood:
4	chr2:98261015..98264268-chr2:98289158..98291782,3	K562	blood:

Variant related genes	Relation type
LINC01125	TF binding region
ENSG00000135940	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000115073	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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 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	chr2:98281000-98290400	Weak transcription	Spleen	Spleen
2	chr2:98281000-98323800	Weak transcription	Gastric	stomach
3	chr2:98281400-98290000	Weak transcription	Left Ventricle	heart
4	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
5	chr2:98281600-98289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:98281600-98290000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:98281600-98290200	Weak transcription	Pancreas	Pancrea
8	chr2:98281600-98290400	Weak transcription	Thymus	Thymus
9	chr2:98281600-98291400	Weak transcription	Right Atrium	heart
10	chr2:98281600-98292000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:98281600-98292800	Weak transcription	HSMM	muscle
12	chr2:98281600-98293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
15	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
16	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:98282000-98290000	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:98282000-98292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:98285600-98292200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:98286200-98292000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:98286400-98289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:98288600-98293600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:98289000-98289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:98289200-98289800	Enhancers	K562	blood
28	chr2:98289200-98290000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:98289200-98291600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:98289200-98292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:98289400-98290400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:98289400-98292200	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:98289600-98289800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:98289600-98290000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:98289600-98290400	Enhancers	Fetal Thymus	thymus
36	chr2:98289600-98290400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:98289600-98291600	Enhancers	GM12878-XiMat	blood

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