Variant report

Variant	rs4622271
Chromosome Location	chr11:66512704-66512705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:66511742-66512783	HCT-116	colon:	n/a	chr11:66511796-66511809
2	EP300	chr11:66511684-66512758	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr11:66511726-66513309	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:66512560-66512710	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr11:66511791-66513097	GM18951	blood:	n/a	n/a
6	POLR2A	chr11:66512663-66513156	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:66511767-66512739	GM12878	blood:	n/a	n/a
8	MTA3	chr11:66511615-66513242	GM12878	blood:	n/a	n/a
9	BACH1	chr11:66511875-66513153	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr11:66511799-66512783	H1-neurons	neurons:	n/a	n/a
11	MAX	chr11:66511596-66513246	A549	lung:	n/a	n/a
12	ZEB1	chr11:66512515-66513237	GM12878	blood:	n/a	chr11:66512926-66512937
13	POLR2A	chr11:66511789-66513112	GM18526	blood:	n/a	n/a
14	POLR2A	chr11:66511710-66512708	GM12878	blood:	n/a	n/a
15	MAX	chr11:66511694-66513325	MCF-7	breast:	n/a	n/a
16	TCF12	chr11:66511736-66513141	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr11:66511767-66512776	SK-N-SH	brain:	n/a	n/a
18	HDAC2	chr11:66511692-66513288	MCF-7	breast:	n/a	n/a
19	EGR1	chr11:66511556-66513095	HCT-116	colon:	n/a	chr11:66511796-66511809
20	TAF1	chr11:66511698-66513047	ECC-1	luminal epithelium:	n/a	n/a
21	CCNT2	chr11:66511772-66513043	K562	blood:	n/a	n/a
22	TAF1	chr11:66511737-66513225	MCF-7	breast:	n/a	n/a
23	YY1	chr11:66511773-66512735	GM12892	blood:	n/a	chr11:66511795-66511809
24	RCOR1	chr11:66511696-66513195	IMR90	lung:	n/a	n/a
25	TCF3	chr11:66512475-66513140	GM12878	blood:	n/a	chr11:66512924-66512938
26	POLR2A	chr11:66511800-66513075	GM12878	blood:	n/a	n/a
27	PML	chr11:66511691-66512990	MCF-7	breast:	n/a	chr11:66512407-66512415
28	UBTF	chr11:66512388-66512755	K562	blood:	n/a	n/a
29	SIN3A	chr11:66511934-66513133	H1-hESC	embryonic stem cell:	n/a	n/a
30	HCFC1	chr11:66511473-66513937	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr11:66511765-66513088	K562	blood:	n/a	n/a
32	MAX	chr11:66511824-66513265	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr11:66511728-66513191	A549	lung:	n/a	n/a
34	NFIC	chr11:66511737-66512816	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr11:66511538-66513176	GM12878	blood:	n/a	chr11:66512110-66512119
36	POLR2A	chr11:66511739-66512749	ECC-1	luminal epithelium:	n/a	n/a
37	ZBTB7A	chr11:66511639-66512860	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr11:66511761-66512745	A549	lung:	n/a	n/a
39	SMARCB1	chr11:66511765-66513237	Hela-S3	cervix:	n/a	n/a
40	E2F6	chr11:66511638-66513066	A549	lung:	n/a	chr11:66512041-66512053 chr11:66512201-66512212 chr11:66512971-66512981 chr11:66511796-66511806
41	MAX	chr11:66511833-66512797	SK-N-SH	brain:	n/a	n/a
42	EGR1	chr11:66511783-66513138	MCF-7	breast:	n/a	chr11:66511796-66511809
43	ELF1	chr11:66511668-66512782	MCF-7	breast:	n/a	chr11:66512110-66512119
44	POLR2A	chr11:66511723-66513195	K562	blood:	n/a	n/a
45	POLR2A	chr11:66511777-66513097	GM15510	blood:	n/a	n/a
46	MAX	chr11:66511672-66513202	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:66511730-66513179	MCF-7	breast:	n/a	n/a
48	YY1	chr11:66511772-66512827	K562	blood:	n/a	chr11:66511795-66511809
49	MAZ	chr11:66511902-66512997	GM12878	blood:	n/a	n/a
50	UBTF	chr11:66511831-66513186	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66510377..66514075-chr11:66555524..66560274,6	MCF-7	breast:
2	chr11:66483106..66491369-chr11:66506993..66514506,29	MCF-7	breast:
3	chr11:66511594..66513264-chr11:66537136..66539617,2	MCF-7	breast:
4	chr11:66493070..66499440-chr11:66510036..66515058,11	K562	blood:
5	chr11:66510712..66513268-chr6:30582693..30584929,2	MCF-7	breast:
6	chr11:66382524..66385340-chr11:66511920..66516933,5	MCF-7	breast:
7	chr11:66512669..66515262-chr17:57923171..57924855,2	MCF-7	breast:
8	chr11:66510242..66514990-chr11:66554599..66560135,5	MCF-7	breast:
9	chr11:66480301..66482694-chr11:66511390..66512916,2	MCF-7	breast:
10	chr11:66492885..66503049-chr11:66507993..66515918,26	MCF-7	breast:
11	chr11:66512295..66513096-chr3:149530434..149531090,2	Hela-S3	cervix:
12	chr11:66510950..66513951-chr11:66609441..66612389,4	MCF-7	breast:
13	chr11:66510399..66513984-chr11:66514064..66517719,8	MCF-7	breast:
14	chr11:66443831..66445354-chr11:66511947..66514652,2	MCF-7	breast:
15	chr11:66509825..66512726-chr11:66614692..66617335,2	K562	blood:
16	chr11:66055492..66057185-chr11:66510556..66513409,3	K562	blood:
17	chr11:66510952..66514202-chr11:66524904..66528064,3	K562	blood:

No data

Variant related genes	Relation type
C11orf80	TF binding region
ENSG00000239553	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000254984	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000199325	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11600012	1.00[MEX][hapmap]
rs12290557	1.00[MEX][hapmap]
rs12421637	1.00[MEX][hapmap]
rs28471984	1.00[MEX][hapmap]
rs7110020	1.00[MEX][hapmap]
rs7124532	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv897792	chr11:66486143-66529101	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv897793	chr11:66486143-66533469	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:66511000-66513000	Active TSS	Right Ventricle	heart
2	chr11:66511000-66513200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:66511000-66513400	Active TSS	Rectal Smooth Muscle	rectum
4	chr11:66511000-66513800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66511200-66512800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:66511200-66513000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:66511200-66513000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:66511200-66513000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:66511200-66513000	Active TSS	K562	blood
10	chr11:66511200-66513200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:66511200-66513400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:66511200-66513600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:66511200-66513600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:66511200-66513600	Active TSS	Fetal Brain Female	brain
15	chr11:66511200-66513800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:66511400-66512800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:66511400-66512800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:66511400-66512800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:66511400-66512800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:66511400-66512800	Active TSS	Duodenum Mucosa	Duodenum
21	chr11:66511400-66512800	Active TSS	Dnd41	blood
22	chr11:66511400-66512800	Active TSS	HMEC	breast
23	chr11:66511400-66512800	Active TSS	HSMM	muscle
24	chr11:66511400-66512800	Active TSS	NHLF	lung
25	chr11:66511400-66513000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr11:66511400-66513000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:66511400-66513000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:66511400-66513000	Active TSS	Brain Hippocampus Middle	brain
29	chr11:66511400-66513000	Active TSS	Colon Smooth Muscle	Colon
30	chr11:66511400-66513000	Active TSS	Psoas Muscle	Psoas
31	chr11:66511400-66513000	Active TSS	Hela-S3	cervix
32	chr11:66511400-66513000	Active TSS	NH-A	brain
33	chr11:66511400-66513200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:66511400-66513200	Active TSS	A549	lung
35	chr11:66511400-66513200	Active TSS	HepG2	liver
36	chr11:66511400-66513200	Active TSS	HSMMtube	muscle
37	chr11:66511400-66513200	Active TSS	NHDF-Ad	bronchial
38	chr11:66511400-66513400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:66511400-66513400	Active TSS	NHEK	skin
40	chr11:66511400-66513600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:66511400-66513600	Active TSS	Colonic Mucosa	Colon
42	chr11:66511400-66513800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:66511600-66512800	Active TSS	Gastric	stomach
44	chr11:66511600-66512800	Active TSS	Lung	lung
45	chr11:66511600-66512800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr11:66511600-66513000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:66511600-66513000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:66511600-66513000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:66511600-66513000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:66511600-66513000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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