Variant report

Variant	rs11212656
Chromosome Location	chr11:108337553-108337554
allele	C/T
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	POLR2A	chr11:108337432-108338696	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:108337548-108338565	PBDE	blood:	n/a	n/a
3	CEBPB	chr11:108337537-108338446	Hela-S3	cervix:	n/a	n/a
4	REST	chr11:108337339-108338890	H1-neurons	neurons:	n/a	chr11:108338203-108338216 chr11:108338206-108338219
5	PML	chr11:108337548-108338742	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:108337505-108338669	GM12878	blood:	n/a	n/a
7	NFIC	chr11:108337493-108338396	GM12878	blood:	n/a	n/a
8	CUX1	chr11:108337332-108338539	K562	blood:	n/a	chr11:108337435-108337444
9	POLR2A	chr11:108337480-108338598	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:108337382-108338520	HUVEC	blood vessel:	n/a	n/a
11	TBP	chr11:108337489-108338542	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:108337461-108338518	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:108337505-108338555	K562	blood:	n/a	n/a
14	IRF1	chr11:108337331-108338605	K562	blood:	n/a	chr11:108338293-108338307 chr11:108337530-108337541 chr11:108337648-108337662 chr11:108337528-108337542 chr11:108337759-108337769 chr11:108337531-108337545 chr11:108337659-108337673 chr11:108337529-108337540 chr11:108337525-108337542 chr11:108337737-108337747 chr11:108337530-108337542 chr11:108338435-108338449 chr11:108337529-108337543 chr11:108337658-108337670 chr11:108337658-108337670 chr11:108337657-108337677 chr11:108337531-108337541 chr11:108337530-108337542 chr11:108337736-108337748 chr11:108337530-108337543 chr11:108337527-108337541 chr11:108338307-108338321
15	POLR2A	chr11:108337467-108338748	GM19099	blood:	n/a	n/a
16	MYC	chr11:108337548-108338501	K562	blood:	n/a	n/a
17	POLR2A	chr11:108337497-108338614	ProgFib	skin:	n/a	n/a
18	POLR2A	chr11:108337161-108338600	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:108337550-108338691	GM12892	blood:	n/a	n/a
20	MTA3	chr11:108337399-108338560	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:108337006-108338985	HepG2	liver:	n/a	n/a
22	IRF1	chr11:108337362-108338563	K562	blood:	n/a	chr11:108338293-108338307 chr11:108337530-108337541 chr11:108337648-108337662 chr11:108337528-108337542 chr11:108337759-108337769 chr11:108337531-108337545 chr11:108337659-108337673 chr11:108337529-108337540 chr11:108337525-108337542 chr11:108337737-108337747 chr11:108337530-108337542 chr11:108338435-108338449 chr11:108337529-108337543 chr11:108337658-108337670 chr11:108337658-108337670 chr11:108337657-108337677 chr11:108337531-108337541 chr11:108337530-108337542 chr11:108337736-108337748 chr11:108337530-108337543 chr11:108337527-108337541 chr11:108338307-108338321
23	POLR2A	chr11:108337412-108338692	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:108336990-108339162	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:108337546-108338504	HUVEC	blood vessel:	n/a	n/a
26	GATA3	chr11:108337339-108337620	SH-SY5Y	brain:	n/a	n/a
27	HCFC1	chr11:108337172-108338671	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:108337456-108338588	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:108337532-108339168	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:108337431-108338671	PANC-1	pancreas:	n/a	n/a
31	PML	chr11:108337434-108338665	K562	blood:	n/a	n/a
32	MTA3	chr11:108337508-108338508	GM12878	blood:	n/a	n/a
33	MAZ	chr11:108337525-108338501	IMR90	lung:	n/a	n/a
34	POLR2A	chr11:108337396-108338553	IMR90	lung:	n/a	n/a
35	POLR2A	chr11:108337540-108338589	K562	blood:	n/a	n/a
36	TCF12	chr11:108337541-108338562	A549	lung:	n/a	n/a
37	POLR2A	chr11:108337186-108339057	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:108337423-108338571	HCT-116	colon:	n/a	n/a
39	POLR2A	chr11:108337530-108338535	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:108337506-108338760	K562	blood:	n/a	n/a
41	POLR2A	chr11:108337503-108338715	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:108336984-108338666	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108335947..108339609-chr11:108366598..108369824,4	MCF-7	breast:
2	chr11:108336534..108338952-chr17:57918620..57920777,2	MCF-7	breast:
3	chr11:108335991..108337619-chr11:108463105..108465715,2	K562	blood:
4	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
5	chr11:108249366..108252205-chr11:108334499..108338160,3	K562	blood:
6	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
7	chr11:108332908..108334594-chr11:108336569..108338180,2	K562	blood:
8	chr11:108092963..108094559-chr11:108335531..108338245,2	K562	blood:
9	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
10	chr11:108335455..108337669-chr11:108500800..108503304,2	K562	blood:
11	chr11:108331131..108333736-chr11:108336574..108338157,2	MCF-7	breast:

Variant related genes	Relation type
C11orf65	TF binding region
ENSG00000149308	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1051141	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10890831	0.94[YRI][hapmap]
rs11212664	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11686	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11822385	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11828864	0.81[AFR][1000 genomes]
rs12293442	0.83[ASW][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap]
rs3092844	0.83[ASW][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];0.84[YRI][hapmap]
rs4357655	0.83[ASW][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.84[YRI][hapmap]
rs4754317	0.93[LWK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs7396719	0.81[AFR][1000 genomes]
rs7942747	0.84[YRI][hapmap]
rs7947933	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active 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	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108336800-108337600	Flanking Active TSS	Dnd41	blood
2	chr11:108336800-108337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:108337000-108337600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:108337000-108337600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:108337000-108337600	Enhancers	Lung	lung
6	chr11:108337000-108337800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:108337000-108337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:108337000-108338600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:108337000-108338600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:108337000-108338600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:108337000-108338600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:108337000-108338600	Active TSS	Duodenum Mucosa	Duodenum
13	chr11:108337000-108338600	Active TSS	Fetal Intestine Large	intestine
14	chr11:108337000-108338800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:108337000-108338800	Active TSS	Colonic Mucosa	Colon
16	chr11:108337000-108338800	Active TSS	Colon Smooth Muscle	Colon
17	chr11:108337000-108338800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:108337000-108338800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:108337000-108339000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:108337000-108339000	Active TSS	Stomach Smooth Muscle	stomach
21	chr11:108337200-108337600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:108337200-108337600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:108337200-108337600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:108337200-108337600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:108337200-108337600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:108337200-108337600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:108337200-108337600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:108337200-108337600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:108337200-108337600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:108337200-108337600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:108337200-108337600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:108337200-108337600	Active TSS	HepG2	liver
33	chr11:108337200-108337800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:108337200-108337800	Active TSS	Brain Germinal Matrix	brain
35	chr11:108337200-108337800	Active TSS	Right Atrium	heart
36	chr11:108337200-108338000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:108337200-108338200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:108337200-108338200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:108337200-108338600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:108337200-108338600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:108337200-108338600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:108337200-108338600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:108337200-108338600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:108337200-108338600	Active TSS	Primary hematopoietic stem cells	blood
45	chr11:108337200-108338600	Active TSS	Fetal Intestine Small	intestine
46	chr11:108337200-108338600	Active TSS	Fetal Muscle Trunk	muscle
47	chr11:108337200-108338600	Active TSS	Fetal Stomach	stomach
48	chr11:108337200-108338600	Active TSS	Fetal Thymus	thymus
49	chr11:108337200-108338600	Active TSS	Thymus	Thymus
50	chr11:108337200-108338600	Active TSS	A549	lung

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