Variant report

Variant	rs916694
Chromosome Location	chr19:35692403-35692404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35690432..35694282-chr19:35737406..35740998,3	K562	blood:
2	chr19:35689748..35692688-chr19:35698548..35701014,3	K562	blood:
3	chr19:35690573..35693790-chr19:35694961..35698637,4	K562	blood:
4	chr19:35691908..35694570-chr19:35738700..35740998,2	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10426076	0.80[GIH][hapmap]
rs1633921	0.86[MEX][hapmap]
rs4805111	0.80[GIH][hapmap]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs916694	SYCN	cis	parietal	SCAN
rs916694	GSK3A	cis	cerebellum	SCAN
rs916694	HNRNPL	cis	cerebellum	SCAN
rs916694	GMFG	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35685600-35693800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:35690000-35693400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:35690200-35693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:35690600-35693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:35690600-35693400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:35690600-35693600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35690600-35693600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:35690800-35693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:35690800-35693400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:35691400-35693600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:35691800-35696200	Weak transcription	Gastric	stomach
12	chr19:35691800-35697000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:35692000-35692800	Enhancers	K562	blood
14	chr19:35692000-35696800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr19:35692200-35692600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:35692200-35693400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:35692200-35693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:35692200-35693400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:35692200-35694000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr19:35692200-35695000	Weak transcription	Spleen	Spleen
21	chr19:35692200-35696000	Weak transcription	Stomach Mucosa	stomach
22	chr19:35692400-35693400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:35692400-35693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:35692400-35693600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:35692400-35694000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:35692400-35695000	Weak transcription	Fetal Thymus	thymus

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