Variant report

Variant	rs6772703
Chromosome Location	chr3:101232736-101232737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr3:101231732-101232826	GM12878	blood:	n/a	n/a
2	HCFC1	chr3:101230878-101232926	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:101232693-101232913	HepG2	liver:	n/a	n/a
4	EP300	chr3:101232043-101232754	Hela-S3	cervix:	n/a	chr3:101232295-101232305
5	MAFK	chr3:101231946-101232874	K562	blood:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
6	POLR2A	chr3:101231296-101233067	GM12891	blood:	n/a	n/a
7	GABPA	chr3:101231385-101232890	MCF-7	breast:	n/a	chr3:101232107-101232118 chr3:101232109-101232118 chr3:101232107-101232121
8	MAFK	chr3:101232281-101232849	HepG2	liver:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
9	MAFF	chr3:101232189-101232847	K562	blood:	n/a	n/a
10	POLR2A	chr3:101231328-101232747	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:101231230-101232812	U87	brain:	n/a	n/a
12	POLR2A	chr3:101231264-101232784	HUVEC	blood vessel:	n/a	n/a
13	TBP	chr3:101231190-101232738	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:101231397-101233042	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:101230840-101232993	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr3:101231081-101232828	K562	blood:	n/a	n/a
17	POLR2A	chr3:101231224-101232877	U87	brain:	n/a	n/a
18	MAFK	chr3:101231897-101232873	Hela-S3	cervix:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
19	POLR2A	chr3:101231368-101233080	K562	blood:	n/a	n/a
20	POLR2A	chr3:101231423-101232737	PBDE	blood:	n/a	n/a
21	MAFK	chr3:101232221-101232852	IMR90	lung:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
22	POLR2A	chr3:101231154-101233157	PANC-1	pancreas:	n/a	n/a
23	MAFK	chr3:101232515-101232791	H1-hESC	embryonic stem cell:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
24	MAZ	chr3:101230887-101232756	IMR90	lung:	n/a	chr3:101232154-101232164 chr3:101232037-101232047
25	POLR2A	chr3:101231348-101232816	K562	blood:	n/a	n/a
26	POLR2A	chr3:101231163-101232887	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr3:101232009-101232820	HCT-116	colon:	n/a	n/a
28	POLR2A	chr3:101230994-101232975	K562	blood:	n/a	n/a
29	MYBL2	chr3:101231745-101232758	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:101231148-101233137	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr3:101231197-101233151	SK-N-MC	brain:	n/a	n/a
32	MAFK	chr3:101232104-101232851	HepG2	liver:	n/a	chr3:101232652-101232667 chr3:101232653-101232664
33	MAFF	chr3:101232123-101232876	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:101231274-101233010	MCF-7	breast:	n/a	n/a
35	POLR2A	chr3:101232650-101232807	ProgFib	skin:	n/a	n/a
36	POLR2A	chr3:101231319-101232857	GM18505	blood:	n/a	n/a
37	CHD2	chr3:101231368-101232812	GM12878	blood:	n/a	chr3:101232363-101232372 chr3:101231684-101231694
38	TBP	chr3:101231906-101232815	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:101231160-101232763	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr3:101231265-101232775	GM19099	blood:	n/a	n/a
41	NRF1	chr3:101231691-101233003	SK-N-SH	brain:	n/a	chr3:101232107-101232118 chr3:101232107-101232118 chr3:101232109-101232118 chr3:101232107-101232121
42	POLR2A	chr3:101231004-101232773	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr3:101230855-101232972	SK-N-SH	brain:	n/a	n/a
44	PML	chr3:101231334-101232751	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:101231277-101232789	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101232718-101232768	Jurkat	blood:	n/a
2	chr3:101232718-101232768	GM12891	blood:	n/a
3	chr3:101232718-101232768	K562	blood:	n/a
4	chr3:101232718-101232768	NHBE	bronchial:	n/a
5	chr3:101232718-101232768	HCPEpiC	choroid plexus:	n/a
6	chr3:101232718-101232768	NT2-D1	testis:	n/a
7	chr3:101232718-101232768	BJ	skin:	n/a
8	chr3:101232718-101232768	NB4	blood:	n/a
9	chr3:101232718-101232768	PrEC	prostate:	n/a
10	chr3:101232718-101232768	SAEC	small airway:	n/a
11	chr3:101232718-101232768	GM19239	blood:	n/a
12	chr3:101232718-101232768	ProgFib	skin:	n/a
13	chr3:101232718-101232768	Hela-S3	cervix:	n/a
14	chr3:101232718-101232768	HCT-116	colon:	n/a
15	chr3:101232718-101232768	HRPEpiC	eye:	n/a
16	chr3:101232718-101232768	HCM	heart:	n/a
17	chr3:101232718-101232768	GM06990	blood:	n/a
18	chr3:101232718-101232768	MCF-7	breast:	n/a
19	chr3:101232718-101232768	ovcar-3	ovarian:	n/a
20	chr3:101232718-101232768	GM12892	blood:	n/a
21	chr3:101232718-101232768	AG09319	gingival:	n/a
22	chr3:101232718-101232768	HIPEpiC	eye:	n/a
23	chr3:101232718-101232768	SK-N-MC	brain:	n/a
24	chr3:101232718-101232768	HMEC	breast:	n/a
25	chr3:101232718-101232768	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:101232718-101232768	RPTEC	kidney:	n/a
27	chr3:101232718-101232768	PFSK-1	brain:	n/a
28	chr3:101232718-101232768	AG04450	lung:	fetal
29	chr3:101232718-101232768	Caco-2	colon:	n/a
30	chr3:101232718-101232768	IMR90	lung:	fetal
31	chr3:101232718-101232768	HL-60	blood:	n/a
32	chr3:101232718-101232768	LNCaP	prostate:	n/a
33	chr3:101232718-101232768	H1-hESC	embryonic stem cell:	embryo
34	chr3:101232718-101232768	CMK	blood:	n/a
35	chr3:101232718-101232768	NHDF-neo	bronchial:	n/a
36	chr3:101232718-101232768	GM12878	blood:	n/a
37	chr3:101232718-101232768	AG10803	skin:	n/a
38	chr3:101232718-101232768	ECC-1	luminal epithelium:	n/a
39	chr3:101232718-101232768	BE2_C	brain:	n/a
40	chr3:101232718-101232768	HNPCEpiC	eye:	n/a
41	chr3:101232718-101232768	HRE	kidney:	n/a
42	chr3:101232718-101232768	SK-N-SH_RA	brain:	n/a
43	chr3:101232718-101232768	NH-A	brain:	n/a
44	chr3:101232718-101232768	SK-N-SH	brain:	n/a
45	chr3:101232718-101232768	U87	brain:	n/a
46	chr3:101232718-101232768	HEK293	kidney:	embryo
47	chr3:101232718-101232768	T-47D	breast:	n/a
48	chr3:101232718-101232768	Hepatocyte	liver:	n/a
49	chr3:101232718-101232768	HCF	heart:	n/a
50	chr3:101232718-101232768	HEEpiC	esophagus:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101230038..101233245-chr3:101289410..101293829,6	MCF-7	breast:
2	chr3:101227907..101233845-chr3:101279162..101282528,7	K562	blood:
3	chr3:101230402..101234052-chr3:101279198..101281668,4	MCF-7	breast:
4	chr3:101218206..101221093-chr3:101229989..101232899,2	K562	blood:
5	chr3:101230224..101236227-chr3:101287209..101294479,8	K562	blood:
6	chr3:101232476..101235048-chr3:101279648..101282092,3	MCF-7	breast:
7	chr3:101232430..101234335-chr3:101235026..101237756,3	K562	blood:
8	chr3:101230728..101233883-chr3:101278974..101284573,9	K562	blood:
9	chr3:101231111..101234614-chr3:101289997..101293015,3	MCF-7	breast:
10	chr3:101230849..101233944-chr3:101235789..101239028,3	MCF-7	breast:
11	chr3:101232266..101234424-chr3:101285260..101287945,2	K562	blood:

No data

Variant related genes	Relation type
FAM172BP	TF binding region
SENP7	TF binding region
FAM172BP	CpG island
SENP7	CpG island
ENSG00000238525	Chromatin interaction
ENSG00000081154	Chromatin interaction
ENSG00000175841	Chromatin interaction
ENSG00000174173	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1019677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10936607	0.94[EUR][1000 genomes]
rs10936642	0.88[EUR][1000 genomes]
rs10936664	0.98[EUR][1000 genomes]
rs12491955	0.88[EUR][1000 genomes]
rs12496260	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13062095	0.94[ASN][1000 genomes]
rs13087404	0.94[EUR][1000 genomes]
rs13088318	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13320918	0.95[EUR][1000 genomes]
rs13322987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2141179	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2141180	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes]
rs2162304	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2178036	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2250611	0.94[EUR][1000 genomes]
rs2317699	0.94[EUR][1000 genomes]
rs2317700	0.94[EUR][1000 genomes]
rs2317745	0.94[EUR][1000 genomes]
rs2317749	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs2317751	0.91[EUR][1000 genomes]
rs2433031	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2553416	1.00[CEU][hapmap];0.86[YRI][hapmap];0.93[EUR][1000 genomes]
rs2553424	0.92[EUR][1000 genomes]
rs2553427	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes]
rs2553430	1.00[CEU][hapmap];0.86[YRI][hapmap];0.93[EUR][1000 genomes]
rs2682383	0.94[EUR][1000 genomes]
rs2682384	0.93[EUR][1000 genomes]
rs2682386	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes]
rs2682390	0.93[EUR][1000 genomes]
rs2682391	0.94[EUR][1000 genomes]
rs28460520	0.84[EUR][1000 genomes]
rs28565548	0.91[EUR][1000 genomes]
rs34255148	0.97[EUR][1000 genomes]
rs3846091	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4287896	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4580527	0.86[AMR][1000 genomes]
rs4683899	0.94[EUR][1000 genomes]
rs4683900	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.94[EUR][1000 genomes]
rs4683917	0.95[EUR][1000 genomes]
rs4683918	0.95[EUR][1000 genomes]
rs473702	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs497953	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs508537	0.81[EUR][1000 genomes]
rs520558	0.91[EUR][1000 genomes]
rs551442	0.91[EUR][1000 genomes]
rs56075912	0.94[EUR][1000 genomes]
rs6441602	0.91[EUR][1000 genomes]
rs6441608	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes]
rs6441610	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6771561	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6773536	0.94[EUR][1000 genomes]
rs7628681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7631506	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636475	0.94[EUR][1000 genomes]
rs9814991	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843186	0.95[EUR][1000 genomes]
rs9856435	0.98[EUR][1000 genomes]
rs9859077	0.91[CEU][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs9874188	0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6772703	SENP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101230200-101232800	Active TSS	Rectal Smooth Muscle	rectum
2	chr3:101230200-101233000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr3:101230400-101232800	Active TSS	Fetal Brain Female	brain
4	chr3:101230400-101233000	Active TSS	Brain Germinal Matrix	brain
5	chr3:101230400-101233200	Active TSS	Stomach Smooth Muscle	stomach
6	chr3:101230800-101232800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:101230800-101232800	Active TSS	Colonic Mucosa	Colon
8	chr3:101230800-101232800	Active TSS	Fetal Stomach	stomach
9	chr3:101230800-101232800	Active TSS	HSMMtube	muscle
10	chr3:101230800-101233000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr3:101230800-101233000	Active TSS	HSMM	muscle
12	chr3:101231000-101232800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr3:101231000-101232800	Active TSS	Aorta	Aorta
14	chr3:101231000-101232800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr3:101231000-101232800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr3:101231000-101232800	Active TSS	Fetal Lung	lung
17	chr3:101231000-101232800	Active TSS	Right Atrium	heart
18	chr3:101231000-101232800	Active TSS	GM12878-XiMat	blood
19	chr3:101231000-101232800	Active TSS	NHLF	lung
20	chr3:101231200-101232800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr3:101231200-101232800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:101231200-101232800	Active TSS	Fetal Brain Male	brain
23	chr3:101231200-101232800	Active TSS	Fetal Thymus	thymus
24	chr3:101231200-101232800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr3:101231200-101232800	Active TSS	Stomach Mucosa	stomach
26	chr3:101231200-101232800	Active TSS	Thymus	Thymus
27	chr3:101231400-101233000	Active TSS	Adipose Nuclei	Adipose
28	chr3:101231600-101233000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:101232200-101232800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:101232200-101232800	Weak transcription	Spleen	Spleen
31	chr3:101232200-101233000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:101232200-101237400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:101232400-101232800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:101232400-101232800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:101232400-101232800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr3:101232400-101232800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr3:101232400-101232800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr3:101232400-101232800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr3:101232400-101232800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr3:101232400-101232800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr3:101232400-101232800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr3:101232400-101232800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr3:101232400-101232800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:101232400-101232800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:101232400-101232800	Flanking Active TSS	HUVEC	blood vessel
46	chr3:101232400-101232800	Flanking Active TSS	Osteobl	bone
47	chr3:101232400-101233000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:101232400-101233000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:101232400-101233000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:101232400-101233000	Flanking Active TSS	Primary B cells from cord blood	blood

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