Variant report

Variant	rs7842910
Chromosome Location	chr8:10095707-10095708
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	chr5:118406656..118407337-chr8:10095570..10096070,2	Hela-S3	cervix:
2	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11777246	0.85[CEU][hapmap]
rs11782517	0.82[CEU][hapmap]
rs11782541	0.85[CEU][hapmap]
rs12544801	0.81[CEU][hapmap]
rs12547261	0.84[CEU][hapmap]
rs13258235	0.81[CEU][hapmap]
rs17151478	0.90[CHB][hapmap]
rs4258008	0.85[CEU][hapmap]
rs4295669	0.81[CEU][hapmap]
rs4563888	0.81[CEU][hapmap]
rs4841297	0.81[CHB][hapmap];0.95[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv890346	chr8:10075373-10103435	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7842910	TDH	cis	parietal	SCAN
rs7842910	C8orf79	cis	parietal	SCAN
rs7842910	MCPH1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10060200-10103000	Weak transcription	Gastric	stomach
2	chr8:10078800-10102800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:10078800-10103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10079200-10102600	Weak transcription	Fetal Brain Female	brain
5	chr8:10093200-10102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:10094400-10096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:10094400-10096200	Enhancers	HUVEC	blood vessel
8	chr8:10094600-10095800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:10094600-10095800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:10094600-10096000	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:10094600-10096000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:10094600-10096200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:10095200-10095800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:10095200-10095800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:10095200-10095800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:10095200-10095800	Enhancers	NH-A	brain
17	chr8:10095400-10095800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10095400-10095800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:10095400-10095800	Enhancers	Adipose Nuclei	Adipose
20	chr8:10095400-10095800	Enhancers	Right Ventricle	heart
21	chr8:10095400-10096000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:10095400-10096000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:10095400-10096000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:10095400-10111600	Weak transcription	Primary T cells from cord blood	blood
25	chr8:10095600-10095800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:10095600-10095800	Enhancers	Right Atrium	heart
27	chr8:10095600-10103000	Weak transcription	Pancreas	Pancrea

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