Variant report

Variant	rs1882654
Chromosome Location	chr7:66146705-66146706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:236)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:236 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr7:66146684-66147278	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:66146015-66148114	GM12878	blood:	n/a	n/a
3	GABPA	chr7:66146655-66147290	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:66146592-66147529	PBDE	blood:	n/a	n/a
5	ATF2	chr7:66146428-66147281	GM12878	blood:	n/a	n/a
6	FOXA2	chr7:66146590-66147400	A549	lung:	n/a	n/a
7	MXI1	chr7:66146525-66148833	IMR90	lung:	n/a	n/a
8	RAD21	chr7:66146677-66147547	SK-N-SH_RA	brain:	n/a	n/a
9	POU2F2	chr7:66146688-66147417	GM12891	blood:	n/a	chr7:66147299-66147311
10	RCOR1	chr7:66146494-66147778	K562	blood:	n/a	n/a
11	GABPA	chr7:66146617-66147292	A549	lung:	n/a	n/a
12	PML	chr7:66146655-66147422	K562	blood:	n/a	n/a
13	TAF1	chr7:66146634-66147404	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr7:66146617-66147613	A549	lung:	n/a	n/a
15	GABPA	chr7:66146674-66147347	HepG2	liver:	n/a	n/a
16	MYC	chr7:66146674-66147394	K562	blood:	n/a	n/a
17	MYBL2	chr7:66146655-66147384	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:66146078-66147376	GM12891	blood:	n/a	n/a
19	CREB1	chr7:66146578-66147595	K562	blood:	n/a	n/a
20	POLR2A	chr7:66146333-66147705	K562	blood:	n/a	n/a
21	ZNF263	chr7:66146664-66147634	HEK293-T-REx	kidney:	n/a	n/a
22	TAF1	chr7:66146641-66147311	K562	blood:	n/a	n/a
23	NFIC	chr7:66146689-66147182	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:66146377-66147482	PFSK-1	brain:	n/a	n/a
25	TEAD4	chr7:66146658-66147310	K562	blood:	n/a	n/a
26	TAF1	chr7:66146562-66147359	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:66146655-66147558	GM18505	blood:	n/a	n/a
28	NR2F2	chr7:66146512-66147474	K562	blood:	n/a	n/a
29	MTA3	chr7:66146051-66147529	GM12878	blood:	n/a	n/a
30	CHD2	chr7:66146685-66147276	HepG2	liver:	n/a	n/a
31	MAX	chr7:66146644-66147545	SK-N-SH	brain:	n/a	n/a
32	MYBL2	chr7:66146596-66147485	HepG2	liver:	n/a	n/a
33	GATA3	chr7:66146675-66147351	A549	lung:	n/a	n/a
34	SIN3AK20	chr7:66146652-66147342	HepG2	liver:	n/a	n/a
35	MAX	chr7:66146676-66147698	HepG2	liver:	n/a	n/a
36	STAT5A	chr7:66146572-66147707	GM12878	blood:	n/a	n/a
37	ELK1	chr7:66146609-66147672	K562	blood:	n/a	chr7:66146867-66146876 chr7:66146867-66146876
38	YY1	chr7:66146331-66146739	GM12892	blood:	n/a	n/a
39	REST	chr7:66146456-66147754	H1-neurons	neurons:	n/a	n/a
40	CREB1	chr7:66146698-66147654	A549	lung:	n/a	n/a
41	GABPA	chr7:66146577-66147437	A549	lung:	n/a	n/a
42	CBX3	chr7:66146127-66148017	K562	blood:	n/a	n/a
43	NFIC	chr7:66146695-66147338	HepG2	liver:	n/a	n/a
44	RELA	chr7:66146685-66147193	GM18951	blood:	n/a	n/a
45	HA-E2F1	chr7:66146675-66147511	MCF-7	breast:	n/a	chr7:66147397-66147407
46	SIX5	chr7:66146617-66147195	A549	lung:	n/a	n/a
47	TAF1	chr7:66146564-66147533	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr7:66146568-66147516	H1-hESC	embryonic stem cell:	n/a	n/a
49	HCFC1	chr7:66146548-66147868	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr7:66146680-66147846	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66144088..66147004-chr7:66459962..66461648,2	MCF-7	breast:
2	chr7:66145930..66148922-chr7:66213233..66215140,2	MCF-7	breast:
3	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
4	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
5	chr5:149829161..149829687-chr7:66146493..66147190,2	Hela-S3	cervix:
6	chr1:25573287..25574307-chr7:66146290..66147502,3	Hela-S3	cervix:
7	chr7:66121223..66123141-chr7:66144196..66146928,3	MCF-7	breast:
8	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
9	chr7:66145819..66148736-chr7:66203770..66205462,3	MCF-7	breast:
10	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
11	chr19:38826520..38827474-chr7:66146585..66147505,2	Hela-S3	cervix:
12	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
13	chr7:66056772..66058576-chr7:66145183..66146865,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABGEF1	TF binding region
ENSG00000117616	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000164587	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000272831	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11975957	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17138012	0.92[ASW][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes]
rs17138015	0.87[AMR][1000 genomes]
rs17138195	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs58642961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60019603	0.87[AMR][1000 genomes]
rs60319566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6960788	0.90[AFR][1000 genomes]
rs6964781	0.94[AFR][1000 genomes]
rs6968492	0.87[AMR][1000 genomes]
rs7786451	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv981398	chr7:66138644-66147890	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66146800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr7:66146000-66146800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66146000-66146800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:66146000-66146800	Flanking Active TSS	Osteobl	bone
5	chr7:66146000-66147000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:66146000-66147000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:66146000-66147400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:66146000-66147600	Active TSS	Stomach Smooth Muscle	stomach
9	chr7:66146000-66147800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:66146000-66147800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:66146000-66148200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:66146000-66148400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:66146000-66148400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:66146000-66148400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:66146000-66148800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:66146200-66146800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr7:66146200-66146800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr7:66146200-66146800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:66146200-66146800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:66146200-66146800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:66146200-66146800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:66146200-66146800	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr7:66146200-66146800	Flanking Active TSS	NH-A	brain
25	chr7:66146200-66147800	Active TSS	Liver	Liver
26	chr7:66146200-66148000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:66146200-66148000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr7:66146200-66148200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:66146200-66148200	Active TSS	Psoas Muscle	Psoas
30	chr7:66146200-66148400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:66146200-66148600	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:66146200-66148600	Active TSS	GM12878-XiMat	blood
33	chr7:66146200-66149000	Active TSS	HSMM	muscle
34	chr7:66146400-66146800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:66146400-66146800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:66146400-66146800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:66146400-66146800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:66146400-66146800	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr7:66146400-66146800	Active TSS	Right Atrium	heart
40	chr7:66146400-66146800	Active TSS	HepG2	liver
41	chr7:66146400-66147200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:66146400-66147400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:66146400-66147800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:66146400-66147800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:66146400-66147800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:66146400-66147800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:66146400-66147800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:66146400-66147800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:66146400-66147800	Active TSS	Fetal Intestine Large	intestine
50	chr7:66146400-66147800	Active TSS	Fetal Intestine Small	intestine

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