Variant report

Variant	rs549125474
Chromosome Location	chr8:125338438-125338439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125338106..125341622-chr8:125346657..125350721,4	MCF-7	breast:
2	chr8:125337424..125341244-chr8:125341867..125344494,3	K562	blood:

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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv516190	chr8:125323011-125343441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125314200-125340200	Weak transcription	Placenta	Placenta
3	chr8:125321800-125339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
5	chr8:125332400-125339000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:125332400-125340400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
9	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
10	chr8:125333200-125340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:125334000-125338800	Weak transcription	Fetal Heart	heart
13	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125334000-125345800	Weak transcription	HMEC	breast
15	chr8:125334200-125340000	Weak transcription	HSMM	muscle
16	chr8:125334200-125340600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:125334200-125343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
19	chr8:125334600-125339000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:125336400-125339200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125337400-125339200	Enhancers	Primary T cells from cord blood	blood
23	chr8:125337600-125339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:125337600-125339400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:125338000-125345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:125338000-125347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:125338200-125338600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:125338400-125339200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:125338400-125339200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:125338400-125339400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr8:125338400-125346000	Weak transcription	A549	lung

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