Variant report

Variant	rs550887375
Chromosome Location	chr7:99779166-99779167
allele	G/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	GATA3	chr7:99778965-99779170	SH-SY5Y	brain:	n/a	n/a
2	SPI1	chr7:99779142-99779306	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99754637..99756174-chr7:99779153..99781591,2	MCF-7	breast:

Variant related genes	Relation type
GPC2	TF binding region
ENSG00000146826	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
3	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv966866	chr7:99778337-99792754	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99775000-99780600	Enhancers	Primary T cells from cord blood	blood
2	chr7:99775800-99779400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:99775800-99787600	Weak transcription	GM12878-XiMat	blood
4	chr7:99775800-99798000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:99776000-99780400	Enhancers	Fetal Thymus	thymus
6	chr7:99777800-99779400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:99777800-99779600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:99778000-99779200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:99778000-99779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:99778000-99779400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:99778200-99779800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:99778400-99779400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:99778400-99779600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:99778600-99797800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:99778800-99779400	Enhancers	Dnd41	blood
16	chr7:99778800-99780600	Enhancers	K562	blood
17	chr7:99778800-99787400	Weak transcription	Thymus	Thymus
18	chr7:99779000-99779200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:99779000-99779200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr7:99779000-99780200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:99779000-99780400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:99779000-99787400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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