Variant report

Variant	rs530782039
Chromosome Location	chr2:173288438-173288439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173284765..173286767-chr2:173287351..173289106,2	MCF-7	breast:
2	chr2:173287551..173289075-chr2:173291560..173293629,2	K562	blood:
3	chr2:173145139..173147717-chr2:173288396..173290436,2	MCF-7	breast:
4	chr2:173277939..173279825-chr2:173286825..173289513,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173274600-173290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173285200-173291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:173285200-173291800	Enhancers	Fetal Thymus	thymus
4	chr2:173286600-173290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:173287200-173288600	Enhancers	Thymus	Thymus
6	chr2:173287200-173288600	Enhancers	Dnd41	blood
7	chr2:173287400-173289400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:173287600-173290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:173287800-173288600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:173287800-173291000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:173288000-173288600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:173288200-173290400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:173288200-173290600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:173288200-173290800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:173288400-173290200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:173288400-173290200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:173288400-173290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:173288400-173290800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:173288400-173291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:173288400-173291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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