Variant report

Variant	rs3806647
Chromosome Location	chr3:141205563-141205564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:141205521-141207007	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:141204645-141205785	U87	brain:	n/a	n/a
3	POLR2A	chr3:141205438-141206899	H1-neurons	neurons:	n/a	n/a
4	SP1	chr3:141205113-141205748	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:141205155-141205737	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr3:141205427-141205675	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:141205479-141205749	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr3:141204940-141207413	IMR90	lung:	n/a	chr3:141204946-141204961
9	POLR2A	chr3:141205513-141206933	Raji	blood:	n/a	n/a
10	POLR2A	chr3:141204567-141206988	HepG2	liver:	n/a	n/a
11	RCOR1	chr3:141205415-141205690	K562	blood:	n/a	n/a
12	GATA3	chr3:141205504-141205850	T-47D	breast:	n/a	n/a
13	STAT3	chr3:141204831-141205600	MCF10A-Er-Src	breast:	n/a	n/a
14	ELK1	chr3:141205560-141205563	GM12878	blood:	n/a	n/a
15	YY1	chr3:141205550-141206293	SK-N-SH	brain:	n/a	chr3:141205915-141205935 chr3:141206090-141206104 chr3:141206218-141206227 chr3:141206136-141206145 chr3:141206113-141206122 chr3:141206066-141206077
16	MAZ	chr3:141204422-141207328	IMR90	lung:	n/a	chr3:141204946-141204955 chr3:141205187-141205197 chr3:141206243-141206252
17	CTBP2	chr3:141205522-141206871	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:141205362-141207319	Hela-S3	cervix:	n/a	n/a
19	KAP1	chr3:141205465-141205606	U2OS	brain:	n/a	n/a
20	POLR2A	chr3:141205508-141205756	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:141205499-141205759	HCT-116	colon:	n/a	n/a
22	REST	chr3:141205209-141207288	H1-neurons	neurons:	n/a	chr3:141206093-141206113
23	POLR2A	chr3:141205391-141206952	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr3:141205435-141205734	U87	brain:	n/a	n/a
25	POLR2A	chr3:141205235-141206808	IMR90	lung:	n/a	n/a
26	POLR2A	chr3:141204583-141206968	HUVEC	blood vessel:	n/a	n/a
27	MAX	chr3:141205474-141207037	MCF-7	breast:	n/a	chr3:141206243-141206252
28	TCF12	chr3:141205370-141207011	ECC-1	luminal epithelium:	n/a	n/a
29	ZKSCAN1	chr3:141205563-141205990	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:141205483-141206766	HepG2	liver:	n/a	n/a
31	IRF1	chr3:141205549-141206110	K562	blood:	n/a	n/a
32	POLR2A	chr3:141205528-141206990	K562	blood:	n/a	n/a
33	HDAC2	chr3:141205322-141205742	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr3:141205397-141205566	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr3:141204836-141205653	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr3:141205528-141206999	NB4	blood:	n/a	n/a
37	MYC	chr3:141205439-141205650	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr3:141205436-141205748	GM12878	blood:	n/a	n/a
39	TAF1	chr3:141205521-141205731	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr3:141205554-141205747	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr3:141205427-141205611	GM12878	blood:	n/a	n/a
42	EGR1	chr3:141205260-141206676	K562	blood:	n/a	chr3:141205358-141205380 chr3:141206268-141206282 chr3:141206111-141206121 chr3:141206108-141206121 chr3:141205764-141205778 chr3:141206107-141206122 chr3:141206108-141206121
43	TCF12	chr3:141204664-141206919	A549	lung:	n/a	n/a
44	MAZ	chr3:141205544-141207059	GM12878	blood:	n/a	chr3:141206243-141206252
45	ZNF263	chr3:141205093-141206085	HEK293-T-REx	kidney:	n/a	n/a
46	MAZ	chr3:141205507-141206962	K562	blood:	n/a	chr3:141206243-141206252
47	HEY1	chr3:141205506-141205713	HepG2	liver:	n/a	n/a
48	TBP	chr3:141204847-141206902	H1-hESC	embryonic stem cell:	n/a	n/a
49	SMARCB1	chr3:141205546-141206928	Hela-S3	cervix:	n/a	n/a
50	JUND	chr3:141204958-141205669	H1-hESC	embryonic stem cell:	n/a	chr3:141205189-141205198

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141205540-141205590	NB4	blood:	n/a
2	chr3:141205540-141205590	HRCEpiC	kidney:	n/a
3	chr3:141205540-141205590	HAEpiC	amniotic membrane:	n/a
4	chr3:141205540-141205590	ProgFib	skin:	n/a
5	chr3:141205540-141205590	PrEC	prostate:	n/a
6	chr3:141205540-141205590	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:141205540-141205590	K562	blood:	n/a
8	chr3:141205540-141205590	HCF	heart:	n/a
9	chr3:141205540-141205590	Jurkat	blood:	n/a
10	chr3:141205540-141205590	HepG2	liver:	n/a
11	chr3:141205540-141205590	HIPEpiC	eye:	n/a
12	chr3:141205540-141205590	HL-60	blood:	n/a
13	chr3:141205540-141205590	CMK	blood:	n/a
14	chr3:141205540-141205590	Caco-2	colon:	n/a
15	chr3:141205540-141205590	HUVEC	blood vessel:	n/a
16	chr3:141205540-141205590	Hepatocyte	liver:	n/a
17	chr3:141205540-141205590	SAEC	small airway:	n/a
18	chr3:141205540-141205590	HRE	kidney:	n/a
19	chr3:141205540-141205590	ECC-1	luminal epithelium:	n/a
20	chr3:141205540-141205590	MCF-7	breast:	n/a
21	chr3:141205540-141205590	NT2-D1	testis:	n/a
22	chr3:141205540-141205590	SK-N-SH_RA	brain:	n/a
23	chr3:141205540-141205590	HNPCEpiC	eye:	n/a
24	chr3:141205540-141205590	SK-N-MC	brain:	n/a
25	chr3:141205540-141205590	RPTEC	kidney:	n/a
26	chr3:141205540-141205590	SKMC	muscle:	n/a
27	chr3:141205540-141205590	NHDF-neo	bronchial:	n/a
28	chr3:141205540-141205590	AG09319	gingival:	n/a
29	chr3:141205540-141205590	Hela-S3	cervix:	n/a
30	chr3:141205540-141205590	HCT-116	colon:	n/a
31	chr3:141205540-141205590	MCF10A-Er-Src	breast:	n/a
32	chr3:141205540-141205590	LNCaP	prostate:	n/a
33	chr3:141205540-141205590	HEK293	kidney:	embryo
34	chr3:141205540-141205590	AG10803	skin:	n/a
35	chr3:141205540-141205590	HMEC	breast:	n/a
36	chr3:141205540-141205590	BJ	skin:	n/a
37	chr3:141205540-141205590	GM12891	blood:	n/a
38	chr3:141205540-141205590	SK-N-SH	brain:	n/a
39	chr3:141205540-141205590	GM12892	blood:	n/a
40	chr3:141205540-141205590	AG09309	skin:	n/a
41	chr3:141205540-141205590	PFSK-1	brain:	n/a
42	chr3:141205540-141205590	AoSMC	blood vessel:	n/a
43	chr3:141205540-141205590	AG04450	lung:	fetal
44	chr3:141205540-141205590	AG04449	skin:	fetal
45	chr3:141205540-141205590	GM06990	blood:	n/a
46	chr3:141205540-141205590	HEEpiC	esophagus:	n/a
47	chr3:141205540-141205590	PANC-1	pancreas:	n/a
48	chr3:141205540-141205590	GM12878	blood:	n/a
49	chr3:141205540-141205590	HCPEpiC	choroid plexus:	n/a
50	chr3:141205540-141205590	NHBE	bronchial:	n/a

(count:6 , 50 per page) page: 1

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	chr3:141085187..141087816-chr3:141204878..141206678,4	MCF-7	breast:
5	chr3:141205080..141206779-chr6:76458156..76460847,2	MCF-7	breast:
6	chr3:141085737..141089975-chr3:141204779..141207356,5	K562	blood:

No data

Variant related genes	Relation type
RASA2	TF binding region
RASA2	CpG island
ENSG00000196586	Chromatin interaction
ENSG00000250170	Chromatin interaction
ENSG00000249417	Chromatin interaction
ENSG00000215606	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1077181	0.82[AMR][1000 genomes]
rs11557453	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707656	0.84[EUR][1000 genomes]
rs11708253	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11709875	0.84[AMR][1000 genomes]
rs11711318	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713714	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11714208	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11716776	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11717144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11717842	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12695734	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12695735	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12695736	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12695740	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12695741	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12695743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13059128	0.81[AMR][1000 genomes]
rs13067519	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13072100	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13078872	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13083593	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13084444	0.92[EUR][1000 genomes]
rs13088429	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13095168	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13099945	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1863870	0.81[EUR][1000 genomes]
rs2312194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34317570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34342794	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4334619	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71619392	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs720663	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7651511	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9289629	0.86[AMR][1000 genomes]
rs9289634	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808953	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822575	0.84[EUR][1000 genomes]
rs9823528	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829588	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9830055	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833121	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9836050	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9836818	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9837202	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9838230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9838419	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840159	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9840697	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9843866	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849180	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9850416	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9865971	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9868956	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870749	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9873042	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3423260	chr3:141204887-141207435	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141203000-141205600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:141203400-141205600	Enhancers	Lung	lung
3	chr3:141204200-141205600	Flanking Active TSS	HUVEC	blood vessel
4	chr3:141204200-141205800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr3:141204200-141208000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:141204400-141205800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr3:141204600-141205600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr3:141204600-141205600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr3:141204600-141205600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr3:141204600-141205600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:141204600-141205600	Flanking Active TSS	Colonic Mucosa	Colon
12	chr3:141204600-141205600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr3:141204600-141205600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr3:141204600-141205600	Flanking Active TSS	NHDF-Ad	bronchial
15	chr3:141204600-141205600	Flanking Active TSS	NHEK	skin
16	chr3:141204600-141205600	Flanking Active TSS	Osteobl	bone
17	chr3:141204600-141205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:141204600-141205800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:141204800-141205600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr3:141204800-141205600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr3:141204800-141205600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr3:141204800-141205600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr3:141204800-141205600	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:141204800-141205600	Flanking Active TSS	Hela-S3	cervix
25	chr3:141204800-141205600	Flanking Active TSS	K562	blood
26	chr3:141204800-141205800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr3:141204800-141207400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr3:141205000-141205600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:141205000-141205600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:141205000-141205600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:141205000-141205600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:141205000-141205600	Enhancers	Fetal Heart	heart
33	chr3:141205000-141205600	Flanking Active TSS	NH-A	brain
34	chr3:141205000-141207000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:141205000-141207000	Active TSS	Fetal Kidney	kidney
36	chr3:141205000-141207400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr3:141205000-141207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:141205200-141205600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:141205200-141205600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:141205200-141205600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:141205200-141205600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr3:141205200-141205600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr3:141205200-141205600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:141205200-141205600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr3:141205200-141205600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr3:141205200-141205600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:141205200-141205600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr3:141205200-141205600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr3:141205200-141205600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr3:141205200-141205600	Flanking Active TSS	Brain Anterior Caudate	brain

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