Variant report

Variant	rs863002
Chromosome Location	chr1:159174920-159174921
allele	C/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	CTCF	chr1:159174905-159175018	K562	blood:	n/a	chr1:159174944-159174960 chr1:159174943-159174961 chr1:159174938-159174959
2	GATA1	chr1:159173489-159175322	PBDE	blood:	n/a	chr1:159174313-159174323 chr1:159174315-159174332 chr1:159174671-159174692 chr1:159174314-159174323 chr1:159174679-159174696 chr1:159174678-159174685 chr1:159174314-159174321 chr1:159174678-159174685 chr1:159174312-159174325 chr1:159174678-159174685
3	POLR2A	chr1:159173266-159177005	PBDE	blood:	n/a	n/a
4	RAD21	chr1:159174916-159175391	H1-hESC	embryonic stem cell:	n/a	chr1:159174947-159174956 chr1:159174941-159174960
5	RAD21	chr1:159174753-159175464	H1-hESC	embryonic stem cell:	n/a	chr1:159174947-159174956 chr1:159174941-159174960
6	CTCF	chr1:159174905-159175015	Medullo	brain:	n/a	chr1:159174944-159174960 chr1:159174943-159174961 chr1:159174938-159174959
7	MAZ	chr1:159173473-159175086	K562	blood:	n/a	chr1:159174159-159174166 chr1:159174156-159174165 chr1:159173637-159173647 chr1:159174157-159174167
8	CTCF	chr1:159174839-159175379	H1-hESC	embryonic stem cell:	n/a	chr1:159174944-159174960 chr1:159174943-159174961 chr1:159174938-159174959
9	MAFK	chr1:159174727-159174927	K562	blood:	n/a	n/a
10	CTCF	chr1:159174784-159175292	K562	blood:	n/a	chr1:159174944-159174960 chr1:159174943-159174961 chr1:159174938-159174959

Variant related genes	Relation type
DARC	TF binding region
ENSG00000225670	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12075	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2814778	1.00[LWK][hapmap]
rs3027012	1.00[LWK][hapmap]
rs6676002	1.00[LWK][hapmap]
rs863006	0.96[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs863002	CCDC19	cis	parietal	SCAN
rs863002	S100A6	cis	parietal	SCAN
rs863002	DARC	cis	cerebellum	SCAN
rs863002	NDUFS2	cis	cerebellum	SCAN
rs863002	USP21	cis	cerebellum	SCAN
rs863002	LENEP	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159158800-159177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:159158800-159177800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:159158800-159188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159168000-159177600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:159168400-159177600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:159170400-159177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:159170800-159177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:159171800-159176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:159172200-159175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:159172600-159177200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:159173000-159176400	Enhancers	GM12878-XiMat	blood
12	chr1:159173400-159176200	Enhancers	Placenta	Placenta
13	chr1:159173600-159175800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:159173800-159175000	Enhancers	Fetal Brain Male	brain
15	chr1:159174000-159175200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:159174400-159175800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr1:159174600-159175000	Enhancers	Fetal Brain Female	brain
18	chr1:159174600-159175600	Active TSS	Lung	lung
19	chr1:159174600-159176000	Active TSS	Spleen	Spleen
20	chr1:159174800-159175600	Enhancers	K562	blood
21	chr1:159174800-159175800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr1:159174800-159175800	Active TSS	Esophagus	oesophagus
23	chr1:159174800-159177200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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