Variant report

Variant	rs11549690
Chromosome Location	chr11:63991581-63991582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63989232-63995299	K562	blood:	n/a	n/a
2	FOS	chr11:63991549-63991883	MCF10A-Er-Src	breast:	n/a	chr11:63991702-63991711 chr11:63991706-63991713
3	POLR2A	chr11:63989880-63995323	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:63991338-63994677	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:63991343-63995010	U87	brain:	n/a	n/a
6	MTA3	chr11:63991287-63995175	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:63991349-63994680	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:63991516-63995277	Raji	blood:	n/a	n/a
9	POLR2A	chr11:63991337-63995010	U87	brain:	n/a	n/a
10	POLR2A	chr11:63991399-63994678	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:63990418-63994603	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:63989946-63994682	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:63990068-63995245	GM18505	blood:	n/a	n/a
14	POLR2A	chr11:63989981-63995376	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:63991347-63994715	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:63989888-63995214	K562	blood:	n/a	n/a
17	POLR2A	chr11:63989890-63992568	K562	blood:	n/a	n/a
18	POLR2A	chr11:63991363-63992202	SK-N-MC	brain:	n/a	n/a
19	MYC	chr11:63991553-63991907	MCF10A-Er-Src	breast:	n/a	chr11:63991703-63991712
20	FOS	chr11:63991549-63991875	MCF10A-Er-Src	breast:	n/a	chr11:63991702-63991711 chr11:63991706-63991713
21	POLR2A	chr11:63991478-63992287	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:63990059-63994553	K562	blood:	n/a	n/a
23	POLR2A	chr11:63989881-63994799	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:63990003-63994887	K562	blood:	n/a	n/a
25	POLR2A	chr11:63991329-63994676	HUVEC	blood vessel:	n/a	n/a
26	NFATC1	chr11:63991460-63992428	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:63991360-63992605	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:63990960-63994308	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:63990076-63994151	K562	blood:	n/a	n/a
30	POLR2A	chr11:63990163-63994910	GM12878	blood:	n/a	n/a
31	FOS	chr11:63991508-63991881	MCF10A-Er-Src	breast:	n/a	chr11:63991702-63991711 chr11:63991706-63991713
32	POLR2A	chr11:63989900-63994663	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:63991181-63994492	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:63989222-63995360	K562	blood:	n/a	n/a
35	POLR2A	chr11:63991338-63992216	U87	brain:	n/a	n/a
36	POLR2A	chr11:63991404-63994814	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:63991558-63991790	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:63990053-63994681	GM18951	blood:	n/a	n/a
39	POLR2A	chr11:63989892-63994921	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:63991528-63994560	NB4	blood:	n/a	n/a
41	POLR2A	chr11:63991464-63994691	PBDE	blood:	n/a	n/a
42	ZMIZ1	chr11:63991548-63992198	K562	blood:	n/a	n/a
43	POLR2A	chr11:63990003-63995334	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:63991495-63994707	GM18526	blood:	n/a	n/a
45	PML	chr11:63991519-63992217	K562	blood:	n/a	n/a
46	PML	chr11:63990964-63994797	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:63991315-63995336	K562	blood:	n/a	n/a
48	POLR2A	chr11:63989877-63995038	GM12892	blood:	n/a	n/a
49	POLR2A	chr11:63991285-63993972	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr11:63991468-63992301	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63991030..63993449-chr16:4673277..4676059,2	K562	blood:
2	chr11:63990938..63995618-chr11:64068467..64075569,11	MCF-7	breast:
3	chr11:63951654..63956341-chr11:63991514..63996131,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R14B-2	chr11:63991572-63991634	NONHSAT021955

No data

Variant related genes	Relation type
NUDT22	TF binding region
ENSG00000219435	Chromatin interaction
ENSG00000102858	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11608180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277260	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12806196	1.00[LWK][hapmap]
rs35169799	1.00[LWK][hapmap]
rs4672	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
26	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
27	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	140 gene(s)	inside rSNPs	diseases
28	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
29	nsv897673	chr11:63991581-64018687	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11549690	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs11549690	PRF1	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63971600-63992800	Weak transcription	Fetal Kidney	kidney
2	chr11:63973600-63993000	Weak transcription	Aorta	Aorta
3	chr11:63975200-63992600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:63975600-63992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63975600-63992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:63975600-63992600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:63975600-63992800	Weak transcription	Fetal Lung	lung
8	chr11:63975800-63992400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:63975800-63992600	Weak transcription	Left Ventricle	heart
10	chr11:63975800-63992600	Weak transcription	Osteobl	bone
11	chr11:63975800-63993000	Weak transcription	Small Intestine	intestine
12	chr11:63976200-63992400	Strong transcription	Fetal Intestine Small	intestine
13	chr11:63976400-63992800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:63976600-63992600	Weak transcription	HUVEC	blood vessel
15	chr11:63976800-63992800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:63977200-63991600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:63977400-63991800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:63977400-63992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:63977400-63992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:63977400-63992200	Strong transcription	Fetal Thymus	thymus
21	chr11:63977600-63991800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:63977800-63991600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:63979800-63992600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:63980200-63991600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:63982200-63992400	Strong transcription	Thymus	Thymus
26	chr11:63983000-63992400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:63983200-63992400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:63984600-63991600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:63984600-63991800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:63985000-63992000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:63986200-63992000	Strong transcription	Fetal Intestine Large	intestine
32	chr11:63986400-63992200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:63986800-63991800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:63986800-63992400	Strong transcription	Fetal Stomach	stomach
35	chr11:63987000-63991800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:63987800-63992400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:63988200-63991800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:63988200-63992600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr11:63988400-63992000	Weak transcription	HepG2	liver
40	chr11:63988600-63992400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:63988600-63992400	Weak transcription	Fetal Brain Female	brain
42	chr11:63988600-63992600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:63988600-63992600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:63988600-63992600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63988600-63992800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:63988800-63992000	Weak transcription	HSMMtube	muscle
47	chr11:63988800-63992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:63988800-63992400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:63988800-63992600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:63988800-63992800	Weak transcription	Primary hematopoietic stem cells	blood

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