Variant report

Variant	rs62465751
Chromosome Location	chr7:66385730-66385731
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	MAX	chr7:66385713-66386358	A549	lung:	n/a	n/a
2	TEAD4	chr7:66385644-66386355	K562	blood:	n/a	n/a
3	BCLAF1	chr7:66385669-66386385	GM12878	blood:	n/a	chr7:66386247-66386256 chr7:66386246-66386259
4	POLR2A	chr7:66385638-66386406	HL-60	blood:	n/a	n/a
5	MAX	chr7:66385653-66386407	ECC-1	luminal epithelium:	n/a	chr7:66386351-66386360
6	BCLAF1	chr7:66385693-66386379	GM12878	blood:	n/a	chr7:66386247-66386256 chr7:66386246-66386259
7	CREB1	chr7:66385629-66386425	K562	blood:	n/a	n/a
8	MYC	chr7:66385670-66386502	A549	lung:	n/a	chr7:66386351-66386360
9	POLR2A	chr7:66385727-66386417	Hela-S3	cervix:	n/a	n/a
10	IRF4	chr7:66385709-66386234	GM12878	blood:	n/a	n/a
11	REST	chr7:66385617-66386361	A549	lung:	n/a	chr7:66386304-66386317
12	MAX	chr7:66385693-66386239	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr7:66385724-66386379	U87	brain:	n/a	n/a
14	PML	chr7:66385548-66387308	GM12878	blood:	n/a	n/a
15	GABPA	chr7:66385656-66386450	SK-N-SH	brain:	n/a	n/a
16	BHLHE40	chr7:66385672-66386407	K562	blood:	n/a	chr7:66386246-66386262 chr7:66386305-66386321
17	CBX3	chr7:66385695-66386251	K562	blood:	n/a	n/a
18	POLR2A	chr7:66385676-66386433	PFSK-1	brain:	n/a	n/a
19	MAX	chr7:66385587-66386429	SK-N-SH	brain:	n/a	chr7:66386351-66386360
20	ELF1	chr7:66385724-66386381	SK-N-SH	brain:	n/a	chr7:66386085-66386098 chr7:66386246-66386255 chr7:66386089-66386098 chr7:66386088-66386097 chr7:66386247-66386259
21	CREB1	chr7:66385673-66386503	A549	lung:	n/a	n/a
22	ELF1	chr7:66385666-66386464	K562	blood:	n/a	chr7:66386085-66386098 chr7:66386246-66386255 chr7:66386412-66386424 chr7:66386089-66386098 chr7:66386088-66386097 chr7:66386247-66386259
23	HEY1	chr7:66385654-66386443	HepG2	liver:	n/a	chr7:66386386-66386401 chr7:66386347-66386362
24	POLR2A	chr7:66385704-66386643	GM18951	blood:	n/a	n/a
25	ELF1	chr7:66385590-66386588	MCF-7	breast:	n/a	chr7:66386085-66386098 chr7:66386246-66386255 chr7:66386412-66386424 chr7:66386089-66386098 chr7:66386088-66386097 chr7:66386247-66386259
26	MYC	chr7:66385701-66386242	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:66385708-66386426	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:66385303-66386473	Raji	blood:	n/a	n/a
29	REST	chr7:66385691-66386260	SK-N-SH	brain:	n/a	n/a
30	IRF4	chr7:66385664-66386264	GM12878	blood:	n/a	n/a
31	RCOR1	chr7:66385692-66386299	HepG2	liver:	n/a	n/a
32	HCFC1	chr7:66385721-66387493	K562	blood:	n/a	n/a
33	MAX	chr7:66385680-66386523	HepG2	liver:	n/a	chr7:66386351-66386360
34	CBX3	chr7:66385669-66386391	HCT-116	colon:	n/a	n/a
35	POLR2A	chr7:66385708-66386414	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr7:66385651-66386310	GM12878	blood:	n/a	n/a
37	EP300	chr7:66385216-66386324	K562	blood:	n/a	chr7:66386196-66386210 chr7:66386195-66386209 chr7:66386052-66386065
38	POLR2A	chr7:66385655-66386236	GM12892	blood:	n/a	n/a
39	NFIC	chr7:66385661-66386363	GM12878	blood:	n/a	n/a
40	RCOR1	chr7:66385606-66386284	K562	blood:	n/a	n/a
41	MAX	chr7:66385451-66386966	A549	lung:	n/a	chr7:66386351-66386360
42	POLR2A	chr7:66385679-66386411	MCF-7	breast:	n/a	n/a
43	MAX	chr7:66385574-66386455	HepG2	liver:	n/a	chr7:66386351-66386360
44	MXI1	chr7:66385366-66387581	GM12878	blood:	n/a	n/a
45	MYBL2	chr7:66385672-66386335	HepG2	liver:	n/a	n/a
46	MXI1	chr7:66384825-66387700	SK-N-SH	brain:	n/a	n/a
47	MBD4	chr7:66385652-66386266	HepG2	liver:	n/a	n/a
48	POLR2A	chr7:66385646-66386430	GM12878	blood:	n/a	n/a
49	FOXA2	chr7:66385697-66386419	A549	lung:	n/a	n/a
50	CEBPB	chr7:66385664-66386251	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66385651..66388919-chr7:66460114..66462403,3	MCF-7	breast:
2	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
3	chr7:66204784..66206359-chr7:66385620..66388278,2	MCF-7	breast:
4	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
5	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
6	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
7	chr7:66308297..66310076-chr7:66385373..66388075,2	K562	blood:
8	chr7:66378566..66381625-chr7:66385153..66387745,3	MCF-7	breast:
9	chr7:66379191..66382749-chr7:66384574..66388642,5	K562	blood:
10	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
11	chr7:66312126..66314998-chr7:66385416..66387725,2	MCF-7	breast:
12	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:
13	chr7:66385080..66386736-chr7:66393610..66396808,3	MCF-7	breast:
14	chr1:228353195..228353730-chr7:66385183..66386076,2	NB4	blood:

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000272831	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000179131	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10232188	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10234322	0.97[AFR][1000 genomes]
rs10235334	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235423	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235638	0.94[AFR][1000 genomes]
rs10236124	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237309	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241528	0.97[AFR][1000 genomes]
rs10247591	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250124	0.97[AFR][1000 genomes]
rs10250831	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10263993	0.91[AFR][1000 genomes]
rs10264223	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264873	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266792	0.88[AFR][1000 genomes]
rs10267922	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10269487	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10270138	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275343	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10275956	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10279240	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281090	0.85[AFR][1000 genomes]
rs10281794	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479729	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12531365	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532805	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532843	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533298	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533724	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534188	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534948	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536003	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537176	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537474	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538038	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540371	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1589887	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138017	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748115	0.88[AFR][1000 genomes]
rs2077180	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2091315	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293350	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28501161	0.88[AFR][1000 genomes]
rs28510688	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28524571	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28590087	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641990	0.88[AFR][1000 genomes]
rs28729561	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778914	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778916	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4617036	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4717326	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56743740	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59765110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61554495	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465677	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465679	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465704	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465717	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465731	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465735	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465746	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465749	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62465753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466580	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73140000	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143914	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143998	0.97[AFR][1000 genomes]
rs73151646	0.88[AFR][1000 genomes]
rs7777631	0.97[AFR][1000 genomes]
rs7785755	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3324611	chr7:66383817-66388015	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 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	chr7:66384800-66387400	Active TSS	NHDF-Ad	bronchial
2	chr7:66385000-66387000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:66385000-66387200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:66385000-66388000	Active TSS	A549	lung
5	chr7:66385200-66385800	Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:66385200-66386000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:66385200-66386800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:66385200-66387000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:66385200-66387000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66385200-66387000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:66385200-66387000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:66385200-66387000	Active TSS	Fetal Brain Female	brain
13	chr7:66385200-66387000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:66385200-66387000	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:66385200-66387200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:66385200-66387200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:66385200-66387200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:66385200-66387200	Active TSS	Fetal Kidney	kidney
19	chr7:66385200-66387200	Active TSS	HMEC	breast
20	chr7:66385200-66387800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:66385400-66385800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:66385400-66385800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:66385400-66385800	Active TSS	Fetal Heart	heart
24	chr7:66385400-66385800	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr7:66385400-66385800	Flanking Active TSS	Fetal Stomach	stomach
26	chr7:66385400-66385800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr7:66385400-66385800	Weak transcription	Spleen	Spleen
28	chr7:66385400-66386000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:66385400-66386000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:66385400-66386000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:66385400-66386000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:66385400-66386000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:66385400-66386000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr7:66385400-66386000	Flanking Active TSS	Osteobl	bone
35	chr7:66385400-66386200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:66385400-66386200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:66385400-66386400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:66385400-66386800	Active TSS	Fetal Brain Male	brain
39	chr7:66385400-66387000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:66385400-66387000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:66385400-66387000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:66385400-66387000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:66385400-66387000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:66385400-66387000	Active TSS	Brain Angular Gyrus	brain
45	chr7:66385400-66387000	Active TSS	Colon Smooth Muscle	Colon
46	chr7:66385400-66387000	Active TSS	Fetal Muscle Leg	muscle
47	chr7:66385400-66387200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:66385400-66387200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:66385400-66387200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:66385400-66387200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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