Variant report

Variant	rs11755519
Chromosome Location	chr6:27046513-27046514
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:27046481-27047155	A549	lung:	n/a	n/a
2	RAD21	chr6:27046499-27047043	MCF-7	breast:	n/a	n/a
3	RAD21	chr6:27046486-27047059	HepG2	liver:	n/a	n/a
4	RAD21	chr6:27046493-27047163	MCF-7	breast:	n/a	n/a
5	RUNX3	chr6:27046407-27047053	GM12878	blood:	n/a	n/a
6	MAZ	chr6:27046510-27046904	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:27046487-27046957	GM12878	blood:	n/a	n/a
8	MAX	chr6:27046489-27046905	GM12878	blood:	n/a	n/a
9	SMC3	chr6:27046471-27047098	GM12878	blood:	n/a	chr6:27046846-27046860 chr6:27046848-27046862
10	RAD21	chr6:27046402-27047047	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr6:27046453-27046991	GM12878	blood:	n/a	n/a
12	RAD21	chr6:27046498-27047047	SK-N-SH_RA	brain:	n/a	n/a
13	FOXM1	chr6:27046447-27047049	GM12878	blood:	n/a	n/a
14	EBF1	chr6:27046362-27046993	GM12878	blood:	n/a	chr6:27046559-27046570
15	CTCF	chr6:27046239-27047362	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr6:27046234-27047513	SK-N-SH	brain:	n/a	n/a
17	MAX	chr6:27046503-27046711	K562	blood:	n/a	n/a
18	RAD21	chr6:27046336-27047200	HCT-116	colon:	n/a	n/a
19	RAD21	chr6:27046462-27047098	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr6:27046385-27047186	A549	lung:	n/a	n/a
21	POLR2A	chr6:27046500-27046992	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr6:27046503-27046959	K562	blood:	n/a	n/a
23	BCLAF1	chr6:27046382-27047068	GM12878	blood:	n/a	n/a
24	CTCF	chr6:27046446-27047067	K562	blood:	n/a	n/a
25	SMC3	chr6:27046285-27047300	SK-N-SH	brain:	n/a	chr6:27046846-27046860 chr6:27046848-27046862
26	MAX	chr6:27046436-27047041	K562	blood:	n/a	n/a
27	RAD21	chr6:27046470-27047110	HepG2	liver:	n/a	n/a
28	RAD21	chr6:27046465-27047070	H1-hESC	embryonic stem cell:	n/a	n/a
29	GTF2F1	chr6:27046485-27047008	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr6:27046504-27047047	H1-hESC	embryonic stem cell:	n/a	n/a
31	WRNIP1	chr6:27046489-27047127	GM12878	blood:	n/a	n/a
32	RAD21	chr6:27046396-27047134	HCT-116	colon:	n/a	n/a
33	SIN3A	chr6:27046399-27046933	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr6:27046456-27047135	MCF-7	breast:	n/a	n/a
35	SMC3	chr6:27046472-27047109	Hela-S3	cervix:	n/a	chr6:27046846-27046860 chr6:27046848-27046862
36	RAD21	chr6:27046471-27047118	GM12878	blood:	n/a	n/a
37	CTCF	chr6:27046395-27047156	HCT-116	colon:	n/a	n/a
38	CTCF	chr6:27046343-27047071	HCT-116	colon:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27037953..27040598-chr6:27044912..27046900,2	MCF-7	breast:
2	chr6:26596507..26599265-chr6:27045244..27047262,3	K562	blood:
3	chr6:26596507..26599265-chr6:27045244..27046828,2	K562	blood:
4	chr6:27043192..27047825-chr6:27099036..27106055,7	K562	blood:
5	chr6:27045716..27047825-chr6:27099036..27103328,4	K562	blood:
6	chr6:26985450..26988105-chr6:27045850..27047500,2	MCF-7	breast:
7	chr6:26607363..26608609-chr6:27046357..27047229,6	MCF-7	breast:
8	chr6:27038557..27041239-chr6:27046359..27048606,2	K562	blood:
9	chr6:26607293..26608283-chr6:27046032..27047188,9	K562	blood:
10	chr6:26053749..26055733-chr6:27045370..27048111,2	K562	blood:
11	chr6:26607360..26608160-chr6:27046500..27047206,2	MCF-7	breast:

No data

Variant related genes	Relation type
VN1R11P	TF binding region
ENSG00000124635	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000146109	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10484392	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484394	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1102566	1.00[AMR][1000 genomes]
rs1102568	1.00[AMR][1000 genomes]
rs11753245	1.00[AMR][1000 genomes]
rs11753378	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11753580	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11755651	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11755813	1.00[AMR][1000 genomes]
rs11756304	1.00[AMR][1000 genomes]
rs11757963	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11758093	1.00[YRI][hapmap]
rs11759167	1.00[AMR][1000 genomes]
rs11759771	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894241	1.00[AMR][1000 genomes]
rs16894325	1.00[YRI][hapmap]
rs16894520	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895602	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2021278	1.00[AMR][1000 genomes]
rs2022271	1.00[AMR][1000 genomes]
rs55656206	1.00[AMR][1000 genomes]
rs55867104	1.00[AMR][1000 genomes]
rs55925824	1.00[AMR][1000 genomes]
rs56141916	1.00[AMR][1000 genomes]
rs56156722	1.00[AMR][1000 genomes]
rs57603020	1.00[AMR][1000 genomes]
rs58265076	1.00[AMR][1000 genomes]
rs58900251	1.00[AMR][1000 genomes]
rs58977511	1.00[AMR][1000 genomes]
rs59757260	1.00[AMR][1000 genomes]
rs60259667	1.00[AMR][1000 genomes]
rs61185098	1.00[AMR][1000 genomes]
rs73737997	1.00[AMR][1000 genomes]
rs73737999	1.00[AMR][1000 genomes]
rs73738226	1.00[AMR][1000 genomes]
rs73738236	1.00[AMR][1000 genomes]
rs73738237	1.00[AMR][1000 genomes]
rs73738707	1.00[AMR][1000 genomes]
rs73738713	1.00[AMR][1000 genomes]
rs73738717	1.00[AMR][1000 genomes]
rs73738718	1.00[AMR][1000 genomes]
rs73738731	1.00[AMR][1000 genomes]
rs73738732	1.00[AMR][1000 genomes]
rs73738733	1.00[AMR][1000 genomes]
rs73738734	1.00[AMR][1000 genomes]
rs73739510	1.00[AMR][1000 genomes]
rs73739515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739532	1.00[AFR][1000 genomes]
rs73739534	1.00[AMR][1000 genomes]
rs73739545	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739557	1.00[AMR][1000 genomes]
rs73739578	1.00[AMR][1000 genomes]
rs73739581	1.00[AMR][1000 genomes]
rs73739582	1.00[AMR][1000 genomes]
rs73739586	1.00[AMR][1000 genomes]
rs73739587	1.00[AMR][1000 genomes]
rs73739589	1.00[AMR][1000 genomes]
rs73739591	1.00[AMR][1000 genomes]
rs73739594	1.00[AMR][1000 genomes]
rs73739595	1.00[AMR][1000 genomes]
rs73739598	1.00[AMR][1000 genomes]
rs73739600	1.00[AMR][1000 genomes]
rs73740278	1.00[AMR][1000 genomes]
rs73740404	1.00[AMR][1000 genomes]
rs73740405	1.00[AMR][1000 genomes]
rs73740406	1.00[AMR][1000 genomes]
rs73740409	1.00[AMR][1000 genomes]
rs73740414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740432	1.00[AMR][1000 genomes]
rs7449898	1.00[AMR][1000 genomes]
rs7755679	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs858966	1.00[AMR][1000 genomes]
rs858971	1.00[AMR][1000 genomes]
rs9366681	1.00[AMR][1000 genomes]
rs996246	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27036600-27046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:27045800-27046800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:27046200-27046600	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:27046200-27047000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:27046200-27047000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:27046200-27047000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:27046200-27047000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:27046200-27047000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:27046200-27047000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:27046200-27047000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:27046200-27047000	Active TSS	A549	lung
12	chr6:27046200-27047000	Active TSS	K562	blood
13	chr6:27046200-27047200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:27046400-27046600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:27046400-27046600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:27046400-27046600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:27046400-27046600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:27046400-27046600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:27046400-27046600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr6:27046400-27046600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:27046400-27046600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr6:27046400-27046600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr6:27046400-27046600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:27046400-27046600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:27046400-27046600	Enhancers	Adipose Nuclei	Adipose
26	chr6:27046400-27046600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr6:27046400-27046600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr6:27046400-27046600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:27046400-27046600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr6:27046400-27046600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:27046400-27046600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:27046400-27046600	Bivalent Enhancer	Fetal Brain Male	brain
33	chr6:27046400-27046600	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr6:27046400-27046600	Enhancers	Fetal Thymus	thymus
35	chr6:27046400-27046600	Enhancers	Dnd41	blood
36	chr6:27046400-27046600	Enhancers	Osteobl	bone
37	chr6:27046400-27046800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr6:27046400-27046800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr6:27046400-27046800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
43	chr6:27046400-27046800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:27046400-27046800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:27046400-27046800	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:27046400-27046800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:27046400-27046800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:27046400-27046800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:27046400-27046800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:27046400-27046800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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