Variant report

Variant	rs7950298
Chromosome Location	chr11:72145720-72145721
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:441)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:72144947-72145860	GM12878	blood:	n/a	n/a
2	SMARCB1	chr11:72144928-72145744	Hela-S3	cervix:	n/a	n/a
3	MAX	chr11:72144966-72145788	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr11:72145092-72145911	K562	blood:	n/a	n/a
5	HMGN3	chr11:72145091-72145731	K562	blood:	n/a	n/a
6	CBX3	chr11:72144711-72146021	K562	blood:	n/a	n/a
7	CTCF	chr11:72144895-72145822	IMR90	lung:	n/a	n/a
8	MAX	chr11:72144956-72145901	A549	lung:	n/a	n/a
9	USF1	chr11:72145428-72145767	SK-N-SH_RA	brain:	n/a	n/a
10	FOXM1	chr11:72144961-72145957	ECC-1	luminal epithelium:	n/a	n/a
11	CREB1	chr11:72144998-72145968	GM12878	blood:	n/a	n/a
12	CTCF	chr11:72144885-72145885	K562	blood:	n/a	n/a
13	ZBTB33	chr11:72145509-72145772	HepG2	liver:	n/a	n/a
14	CTCF	chr11:72145568-72145810	A549	lung:	n/a	n/a
15	YY1	chr11:72145176-72145807	A549	lung:	n/a	chr11:72145561-72145583 chr11:72145572-72145580
16	ATF3	chr11:72145045-72145925	GM12878	blood:	n/a	chr11:72145711-72145722 chr11:72145711-72145722
17	EBF1	chr11:72145528-72145816	GM12878	blood:	n/a	n/a
18	SRF	chr11:72144996-72145994	MCF-7	breast:	n/a	chr11:72145548-72145558
19	ETS1	chr11:72145036-72145948	A549	lung:	n/a	chr11:72145636-72145649
20	TAF1	chr11:72145062-72145813	H1-hESC	embryonic stem cell:	n/a	n/a
21	NRF1	chr11:72145000-72145874	GM12878	blood:	n/a	n/a
22	RFX5	chr11:72145228-72145756	GM12878	blood:	n/a	n/a
23	GTF2B	chr11:72145232-72145808	K562	blood:	n/a	n/a
24	EP300	chr11:72145095-72145861	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr11:72145095-72145943	Hela-S3	cervix:	n/a	n/a
26	YY1	chr11:72145017-72145912	HepG2	liver:	n/a	chr11:72145561-72145583 chr11:72145572-72145580
27	CTCF	chr11:72144620-72146045	A549	lung:	n/a	n/a
28	MTA3	chr11:72145200-72145840	GM12878	blood:	n/a	n/a
29	CREB1	chr11:72144875-72145884	K562	blood:	n/a	n/a
30	CEBPB	chr11:72145335-72145860	MCF-7	breast:	n/a	chr11:72145752-72145765 chr11:72145710-72145721 chr11:72145753-72145764
31	YY1	chr11:72145183-72145880	NT2-D1	testis:	n/a	chr11:72145561-72145583 chr11:72145572-72145580
32	TBP	chr11:72144912-72145966	K562	blood:	n/a	n/a
33	CEBPB	chr11:72144725-72145956	K562	blood:	n/a	chr11:72145752-72145765 chr11:72145710-72145721 chr11:72145753-72145764
34	POU2F2	chr11:72145044-72145782	GM12891	blood:	n/a	n/a
35	ZNF143	chr11:72145006-72145963	GM12878	blood:	n/a	chr11:72145687-72145705 chr11:72145689-72145698 chr11:72145691-72145710 chr11:72145037-72145056
36	BHLHE40	chr11:72144945-72145895	K562	blood:	n/a	n/a
37	MAX	chr11:72144971-72145869	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr11:72145340-72145782	HepG2	liver:	n/a	n/a
39	BCLAF1	chr11:72144997-72145946	GM12878	blood:	n/a	n/a
40	MXI1	chr11:72145147-72145837	Hela-S3	cervix:	n/a	n/a
41	SRF	chr11:72145046-72145869	ECC-1	luminal epithelium:	n/a	chr11:72145548-72145558
42	POLR2A	chr11:72144894-72146167	K562	blood:	n/a	n/a
43	FOXA1	chr11:72145416-72145814	T-47D	breast:	n/a	n/a
44	ZNF143	chr11:72144938-72145963	Hela-S3	cervix:	n/a	chr11:72145687-72145705 chr11:72145689-72145698 chr11:72145691-72145710 chr11:72145037-72145056
45	YY1	chr11:72145127-72145943	SK-N-SH_RA	brain:	n/a	chr11:72145561-72145583 chr11:72145572-72145580
46	POLR2A	chr11:72144957-72145910	SK-N-MC	brain:	n/a	n/a
47	RELA	chr11:72145055-72145832	GM18951	blood:	n/a	n/a
48	EP300	chr11:72145206-72145808	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:72145167-72145800	GM12892	blood:	n/a	n/a
50	CTCF	chr11:72145165-72145761	Lung_OC	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72145691-72145741	T-47D	breast:	n/a
2	chr11:72145691-72145741	BJ	skin:	n/a
3	chr11:72145691-72145741	MCF-7	breast:	n/a
4	chr11:72145691-72145741	AG04449	skin:	fetal
5	chr11:72145691-72145741	GM12891	blood:	n/a
6	chr11:72145691-72145741	H1-hESC	embryonic stem cell:	embryo
7	chr11:72145691-72145741	PANC-1	pancreas:	n/a
8	chr11:72145691-72145741	HRE	kidney:	n/a
9	chr11:72145691-72145741	NT2-D1	testis:	n/a
10	chr11:72145691-72145741	CMK	blood:	n/a
11	chr11:72145691-72145741	Jurkat	blood:	n/a
12	chr11:72145691-72145741	HNPCEpiC	eye:	n/a
13	chr11:72145691-72145741	LNCaP	prostate:	n/a
14	chr11:72145691-72145741	SKMC	muscle:	n/a
15	chr11:72145691-72145741	GM06990	blood:	n/a
16	chr11:72145691-72145741	K562	blood:	n/a
17	chr11:72145691-72145741	MCF10A-Er-Src	breast:	n/a
18	chr11:72145691-72145741	BE2_C	brain:	n/a
19	chr11:72145691-72145741	AG09319	gingival:	n/a
20	chr11:72145691-72145741	RPTEC	kidney:	n/a
21	chr11:72145691-72145741	HCM	heart:	n/a
22	chr11:72145691-72145741	HAEpiC	amniotic membrane:	n/a
23	chr11:72145691-72145741	ProgFib	skin:	n/a
24	chr11:72145691-72145741	HIPEpiC	eye:	n/a
25	chr11:72145691-72145741	NB4	blood:	n/a
26	chr11:72145691-72145741	GM19239	blood:	n/a
27	chr11:72145691-72145741	NHBE	bronchial:	n/a
28	chr11:72145691-72145741	ECC-1	luminal epithelium:	n/a
29	chr11:72145691-72145741	SK-N-SH_RA	brain:	n/a
30	chr11:72145691-72145741	HL-60	blood:	n/a
31	chr11:72145691-72145741	AG10803	skin:	n/a
32	chr11:72145691-72145741	HCF	heart:	n/a
33	chr11:72145691-72145741	Caco-2	colon:	n/a
34	chr11:72145691-72145741	HEK293	kidney:	embryo
35	chr11:72145691-72145741	A549	lung:	n/a
36	chr11:72145691-72145741	HCPEpiC	choroid plexus:	n/a
37	chr11:72145691-72145741	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:72145691-72145741	IMR90	lung:	fetal
39	chr11:72145691-72145741	Hepatocyte	liver:	n/a
40	chr11:72145691-72145741	Hela-S3	cervix:	n/a
41	chr11:72145691-72145741	HUVEC	blood vessel:	n/a
42	chr11:72145691-72145741	HMEC	breast:	n/a
43	chr11:72145691-72145741	AG09309	skin:	n/a
44	chr11:72145691-72145741	SK-N-SH	brain:	n/a
45	chr11:72145691-72145741	HCT-116	colon:	n/a
46	chr11:72145691-72145741	PFSK-1	brain:	n/a
47	chr11:72145691-72145741	SAEC	small airway:	n/a
48	chr11:72145691-72145741	AG04450	lung:	fetal
49	chr11:72145691-72145741	HRPEpiC	eye:	n/a
50	chr11:72145691-72145741	HEEpiC	esophagus:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72061795..72064274-chr11:72144176..72146895,2	MCF-7	breast:
2	chr11:72124108..72125861-chr11:72145694..72147831,2	K562	blood:
3	chr11:71938045..71940787-chr11:72145330..72147281,2	K562	blood:
4	chr11:72145007..72145882-chr5:172197789..172198461,2	Hela-S3	cervix:
5	chr11:71751168..71753291-chr11:72144647..72146804,2	MCF-7	breast:
6	chr11:71812980..71815340-chr11:72143854..72146897,3	MCF-7	breast:
7	chr11:71813081..71815809-chr11:72144185..72147079,2	K562	blood:
8	chr11:71813512..71815032-chr11:72144713..72146215,2	MCF-7	breast:
9	chr11:71935409..71935957-chr11:72144881..72145767,2	MCF-7	breast:
10	chr11:71935149..71936719-chr11:72144197..72145744,2	K562	blood:
11	chr11:71942537..71944052-chr11:72144068..72146926,2	K562	blood:
12	chr11:72061191..72063131-chr11:72144186..72146277,2	K562	blood:

No data

Variant related genes	Relation type
CLPB	TF binding region
CLPB	CpG island
ENSG00000120129	Chromatin interaction
ENSG00000256739	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1160142	0.82[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs12295464	0.92[EUR][1000 genomes]
rs17160018	0.82[CEU][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs17162150	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs1864322	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs57380316	0.95[EUR][1000 genomes]
rs57402767	0.90[EUR][1000 genomes]
rs58058345	0.95[EUR][1000 genomes]
rs58515298	0.95[EUR][1000 genomes]
rs58571741	0.95[EUR][1000 genomes]
rs61889249	0.87[AMR][1000 genomes]
rs7107393	0.87[AMR][1000 genomes]
rs7107422	0.82[CEU][hapmap];0.95[EUR][1000 genomes]
rs7109307	0.95[EUR][1000 genomes]
rs7109466	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111173	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114507	0.87[AMR][1000 genomes]
rs7118089	0.95[EUR][1000 genomes]
rs7118697	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs7120137	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs7129526	0.82[CEU][hapmap];0.95[EUR][1000 genomes]
rs72954115	1.00[ASN][1000 genomes]
rs7927430	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs7936281	0.87[AMR][1000 genomes]
rs7938979	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs7939212	0.84[EUR][1000 genomes]
rs7940087	0.87[EUR][1000 genomes]
rs7947482	0.82[CEU][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72144000-72145800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:72144600-72145800	Active TSS	A549	lung
3	chr11:72144600-72146000	Active TSS	HSMM	muscle
4	chr11:72144600-72146200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:72144800-72145800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:72144800-72145800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:72144800-72145800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:72144800-72145800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:72144800-72145800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:72144800-72145800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:72144800-72145800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:72144800-72145800	Active TSS	NHLF	lung
13	chr11:72144800-72146000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:72144800-72146000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:72144800-72146000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:72144800-72146000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:72144800-72146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:72144800-72146000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:72144800-72146000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:72144800-72146000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:72144800-72146200	Active TSS	Thymus	Thymus
22	chr11:72145000-72145800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:72145000-72145800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:72145000-72145800	Active TSS	HMEC	breast
25	chr11:72145000-72145800	Active TSS	HSMMtube	muscle
26	chr11:72145000-72146000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:72145000-72146000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:72145000-72146000	Active TSS	K562	blood
29	chr11:72145200-72145800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:72145200-72145800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:72145200-72145800	Active TSS	Primary hematopoietic stem cells	blood
32	chr11:72145200-72145800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:72145200-72145800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:72145200-72145800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:72145200-72145800	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:72145200-72145800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:72145200-72145800	Active TSS	Brain Angular Gyrus	brain
38	chr11:72145200-72145800	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:72145200-72145800	Active TSS	Brain Substantia Nigra	brain
40	chr11:72145200-72145800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:72145200-72145800	Active TSS	Fetal Intestine Small	intestine
42	chr11:72145200-72145800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:72145200-72145800	Active TSS	Hela-S3	cervix
44	chr11:72145200-72145800	Active TSS	Osteobl	bone
45	chr11:72145200-72146000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:72145200-72146000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:72145200-72146000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:72145200-72146000	Active TSS	Brain Hippocampus Middle	brain
49	chr11:72145200-72146000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:72145200-72146000	Active TSS	Colon Smooth Muscle	Colon

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