Variant report

Variant	rs3806646
Chromosome Location	chr3:141204844-141204845
allele	C/G
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	POLR2A	chr3:141204645-141205785	U87	brain:	n/a	n/a
2	SP1	chr3:141204674-141205275	A549	lung:	n/a	n/a
3	FOS	chr3:141204796-141205222	MCF10A-Er-Src	breast:	n/a	chr3:141205189-141205198
4	REST	chr3:141204576-141204891	K562	blood:	n/a	n/a
5	RCOR1	chr3:141204669-141204905	K562	blood:	n/a	n/a
6	POLR2A	chr3:141204567-141206988	HepG2	liver:	n/a	n/a
7	STAT3	chr3:141204831-141205600	MCF10A-Er-Src	breast:	n/a	n/a
8	MAZ	chr3:141204422-141207328	IMR90	lung:	n/a	chr3:141204946-141204955 chr3:141205187-141205197 chr3:141206243-141206252
9	POLR2A	chr3:141204583-141206968	HUVEC	blood vessel:	n/a	n/a
10	CBX3	chr3:141204535-141204995	K562	blood:	n/a	n/a
11	TEAD4	chr3:141204425-141205024	K562	blood:	n/a	n/a
12	SPI1	chr3:141204330-141205241	HL-60	blood:	n/a	chr3:141204599-141204612 chr3:141204601-141204610 chr3:141204598-141204611 chr3:141204602-141204609
13	STAT3	chr3:141204836-141205653	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFK	chr3:141204763-141205101	Hela-S3	cervix:	n/a	n/a
15	NR2F2	chr3:141204621-141205038	K562	blood:	n/a	chr3:141204855-141204870
16	TCF12	chr3:141204664-141206919	A549	lung:	n/a	n/a
17	TEAD4	chr3:141204798-141205291	HepG2	liver:	n/a	n/a
18	BHLHE40	chr3:141204515-141204900	K562	blood:	n/a	n/a
19	POLR2A	chr3:141204569-141206776	HUVEC	blood vessel:	n/a	n/a
20	REST	chr3:141204618-141205797	A549	lung:	n/a	n/a
21	POLR2A	chr3:141204295-141207151	HUVEC	blood vessel:	n/a	n/a
22	WRNIP1	chr3:141204796-141204994	GM12878	blood:	n/a	n/a
23	TAL1	chr3:141204782-141204875	K562	blood:	n/a	chr3:141204791-141204809
24	FOS	chr3:141204398-141205364	HUVEC	blood vessel:	n/a	chr3:141205189-141205198
25	ARID3A	chr3:141204602-141205135	HepG2	liver:	n/a	n/a
26	NFYB	chr3:141204784-141204992	Hela-S3	cervix:	n/a	n/a
27	JUND	chr3:141204573-141204848	K562	blood:	n/a	n/a
28	MAX	chr3:141204660-141205029	A549	lung:	n/a	chr3:141204946-141204955
29	FOXA2	chr3:141204791-141205122	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:141204709-141205097	HUVEC	blood vessel:	n/a	n/a
31	SP1	chr3:141204558-141205810	A549	lung:	n/a	n/a
32	POLR2A	chr3:141204830-141205267	HUVEC	blood vessel:	n/a	n/a
33	TRIM28	chr3:141204593-141204876	K562	blood:	n/a	n/a
34	STAT3	chr3:141204833-141205554	MCF10A-Er-Src	breast:	n/a	n/a
35	TBP	chr3:141204840-141204974	K562	blood:	n/a	n/a
36	FOSL2	chr3:141204685-141205730	A549	lung:	n/a	chr3:141205189-141205198
37	POLR2A	chr3:141204651-141205779	U87	brain:	n/a	n/a
38	POLR2A	chr3:141204727-141205196	Hela-S3	cervix:	n/a	n/a
39	MYC	chr3:141204722-141204947	K562	blood:	n/a	n/a
40	MXI1	chr3:141204748-141208045	SK-N-SH	brain:	n/a	chr3:141204946-141204961
41	FOSL2	chr3:141204794-141205134	A549	lung:	n/a	n/a
42	TBL1XR1	chr3:141204755-141204898	K562	blood:	n/a	n/a
43	POLR2A	chr3:141204793-141207037	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOS	chr3:141204775-141205582	MCF10A-Er-Src	breast:	n/a	chr3:141205189-141205198
45	MAZ	chr3:141204623-141204963	K562	blood:	n/a	chr3:141204946-141204955
46	GATA2	chr3:141204305-141205231	HUVEC	blood vessel:	n/a	chr3:141204791-141204800 chr3:141204791-141204798 chr3:141204788-141204798 chr3:141204791-141204798 chr3:141204790-141204800 chr3:141204784-141204805 chr3:141204791-141204798
47	GATA3	chr3:141204506-141205180	T-47D	breast:	n/a	chr3:141204791-141204800 chr3:141204791-141204798 chr3:141204788-141204798 chr3:141204791-141204798 chr3:141204790-141204800 chr3:141204784-141204805 chr3:141204791-141204798
48	MAFK	chr3:141204664-141205191	IMR90	lung:	n/a	n/a
49	MAFK	chr3:141204739-141204939	HepG2	liver:	n/a	n/a
50	UBTF	chr3:141204581-141204885	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141204551..141207938-chr3:141241119..141245308,6	MCF-7	breast:
2	chr3:141194536..141196661-chr3:141202566..141205649,3	K562	blood:
3	chr3:141189849..141195094-chr3:141204829..141208801,7	MCF-7	breast:
4	chr3:141203440..141205280-chr3:141224808..141226638,2	K562	blood:
5	chr3:141085737..141089975-chr3:141204779..141207356,5	K562	blood:

Variant related genes	Relation type
RASA2	TF binding region
ENSG00000250170	Chromatin interaction
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction
ENSG00000215606	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11711375	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11916906	0.85[EUR][1000 genomes]
rs11917587	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13062809	0.81[EUR][1000 genomes]
rs13069717	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1366042	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1493209	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1582875	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16851435	0.89[JPT][hapmap]
rs16851438	0.94[JPT][hapmap]
rs16851441	0.89[JPT][hapmap]
rs16851483	0.88[JPT][hapmap]
rs1863867	1.00[JPT][hapmap]
rs2035935	0.88[JPT][hapmap]
rs2035936	0.82[JPT][hapmap]
rs2042864	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2172471	0.83[EUR][1000 genomes]
rs2312193	0.92[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes]
rs2639997	0.88[JPT][hapmap]
rs2639998	0.82[EUR][1000 genomes]
rs2640017	0.88[JPT][hapmap]
rs295299	0.88[JPT][hapmap]
rs295300	0.88[JPT][hapmap]
rs295320	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs295323	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs35711802	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3732869	0.89[JPT][hapmap]
rs3821709	0.88[JPT][hapmap]
rs3821710	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3821712	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683610	0.88[JPT][hapmap]
rs6440013	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440015	0.82[EUR][1000 genomes]
rs6763498	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6767158	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6776003	0.86[CEU][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6785874	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6795168	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6800122	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6808837	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7627807	0.88[JPT][hapmap]
rs7632308	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7643837	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9289631	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9813177	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9851256	0.88[CEU][hapmap]
rs9878347	0.94[JPT][hapmap]
rs9879503	0.94[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3806646	RASA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141201200-141205400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:141201400-141205400	Enhancers	Placenta	Placenta
3	chr3:141203000-141205600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:141203400-141205600	Enhancers	Lung	lung
5	chr3:141203800-141205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:141203800-141205200	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:141203800-141205200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:141203800-141205200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:141203800-141205400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:141204000-141205000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:141204000-141205000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:141204000-141205400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:141204000-141205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:141204200-141205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:141204200-141205200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:141204200-141205200	Enhancers	Fetal Intestine Large	intestine
17	chr3:141204200-141205200	Enhancers	Dnd41	blood
18	chr3:141204200-141205600	Flanking Active TSS	HUVEC	blood vessel
19	chr3:141204200-141205800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:141204200-141208000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:141204400-141205000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:141204400-141205000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:141204400-141205000	Enhancers	NH-A	brain
24	chr3:141204400-141205200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:141204400-141205200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:141204400-141205200	Enhancers	HSMM	muscle
27	chr3:141204400-141205800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr3:141204600-141205000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:141204600-141205000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:141204600-141205000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:141204600-141205000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:141204600-141205000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:141204600-141205000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:141204600-141205000	Enhancers	Right Atrium	heart
35	chr3:141204600-141205000	Flanking Active TSS	HepG2	liver
36	chr3:141204600-141205200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr3:141204600-141205200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:141204600-141205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:141204600-141205200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:141204600-141205200	Enhancers	Brain Hippocampus Middle	brain
41	chr3:141204600-141205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:141204600-141205400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:141204600-141205400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:141204600-141205400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:141204600-141205400	Enhancers	Fetal Thymus	thymus
46	chr3:141204600-141205400	Enhancers	Left Ventricle	heart
47	chr3:141204600-141205400	Enhancers	Stomach Mucosa	stomach
48	chr3:141204600-141205400	Flanking Active TSS	A549	lung
49	chr3:141204600-141205400	Enhancers	HSMMtube	muscle
50	chr3:141204600-141205600	Flanking Active TSS	Primary T cells from cord blood	blood

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