Variant report

Variant	rs7249603
Chromosome Location	chr19:40464432-40464433
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	chr19:40463962..40466108-chr19:40471183..40473950,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3318535	chr19:40464232-40464976	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3318536	chr19:40464232-40464976	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
2	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:40458400-40466400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:40459600-40466200	Enhancers	Primary B cells from cord blood	blood
5	chr19:40460000-40464800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40460400-40464800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:40460400-40465000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:40460600-40464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
11	chr19:40461400-40465000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:40461600-40465200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:40461600-40475400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:40461800-40465000	Weak transcription	Fetal Thymus	thymus
15	chr19:40462200-40464800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:40462400-40466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:40463400-40466400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:40463600-40466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:40463800-40465000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr19:40463800-40466400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:40463800-40467400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:40464000-40465000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:40464000-40465000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:40464000-40465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:40464000-40465000	Weak transcription	Primary T cells from cord blood	blood
26	chr19:40464000-40465000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:40464000-40467200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:40464000-40467200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr19:40464000-40475000	Weak transcription	GM12878-XiMat	blood
30	chr19:40464200-40465200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:40464400-40464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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