Variant report

Variant	rs73739587
Chromosome Location	chr6:27094735-27094736
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:27094676-27095253	SK-N-SH_RA	brain:	n/a	chr6:27094800-27094811 chr6:27095013-27095025 chr6:27094938-27094950
2	YY1	chr6:27094460-27094837	K562	blood:	n/a	chr6:27094800-27094811
3	CHD2	chr6:27089622-27095811	K562	blood:	n/a	n/a
4	RAD21	chr6:27094378-27095456	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:27093575-27094948	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:27094660-27094810	GM12801	blood:	n/a	n/a
7	POLR2A	chr6:27094696-27095405	HL-60	blood:	n/a	n/a
8	ZMIZ1	chr6:27094574-27095198	K562	blood:	n/a	n/a
9	TEAD4	chr6:27093809-27095766	K562	blood:	n/a	n/a
10	CEBPD	chr6:27092804-27098453	K562	blood:	n/a	n/a
11	SMC3	chr6:27094719-27095277	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr6:27093752-27095524	K562	blood:	n/a	n/a
13	CTCF	chr6:27094731-27095244	T-47D	breast:	n/a	chr6:27094800-27094813
14	CTCF	chr6:27094463-27095527	HCT-116	colon:	n/a	chr6:27094800-27094813
15	SIN3AK20	chr6:27094727-27095472	MCF-7	breast:	n/a	n/a
16	TBL1XR1	chr6:27094114-27095353	K562	blood:	n/a	n/a
17	RAD21	chr6:27094693-27095295	HepG2	liver:	n/a	n/a
18	EGR1	chr6:27093684-27094748	K562	blood:	n/a	n/a
19	MAFF	chr6:27094520-27095278	K562	blood:	n/a	n/a
20	YY1	chr6:27094621-27095242	GM12878	blood:	n/a	chr6:27094800-27094811 chr6:27095013-27095025 chr6:27094938-27094950
21	CBX3	chr6:27094688-27095375	HCT-116	colon:	n/a	n/a
22	POLR2A	chr6:27086098-27108353	K562	blood:	n/a	n/a
23	CTCF	chr6:27094667-27094794	GM19240	blood:	n/a	n/a
24	POLR2A	chr6:27093910-27095385	K562	blood:	n/a	n/a
25	CTCF	chr6:27094729-27095258	GM12878	blood:	n/a	chr6:27094800-27094813
26	GATA2	chr6:27093678-27095273	K562	blood:	n/a	n/a
27	CTCF	chr6:27094662-27095169	A549	lung:	n/a	chr6:27094800-27094813
28	TCF12	chr6:27094730-27095304	A549	lung:	n/a	n/a
29	RAD21	chr6:27094700-27095260	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:27094610-27095256	IMR90	lung:	n/a	chr6:27094800-27094813
31	CTCF	chr6:27094717-27094746	HepG2	liver:	n/a	n/a
32	CHD1	chr6:27094411-27095581	IMR90	lung:	n/a	n/a
33	CTCF	chr6:27094096-27095617	SK-N-SH	brain:	n/a	chr6:27094800-27094813
34	SMC3	chr6:27094434-27095421	SK-N-SH	brain:	n/a	n/a
35	YY1	chr6:27094472-27095105	GM12878	blood:	n/a	chr6:27094800-27094811 chr6:27095013-27095025 chr6:27094938-27094950
36	CTCF	chr6:27094666-27095231	K562	blood:	n/a	chr6:27094800-27094813
37	BCLAF1	chr6:27094724-27095266	GM12878	blood:	n/a	n/a
38	FOXM1	chr6:27094735-27095246	GM12878	blood:	n/a	n/a
39	BCLAF1	chr6:27094726-27095844	K562	blood:	n/a	n/a
40	NFIC	chr6:27094542-27095431	GM12878	blood:	n/a	n/a
41	YY1	chr6:27094671-27095169	GM12891	blood:	n/a	chr6:27094800-27094811 chr6:27095013-27095025 chr6:27094938-27094950
42	YY1	chr6:27094550-27095278	SK-N-SH	brain:	n/a	chr6:27094800-27094811 chr6:27095013-27095025 chr6:27094938-27094950
43	MAZ	chr6:27094001-27095380	IMR90	lung:	n/a	n/a
44	RUNX3	chr6:27094626-27095276	GM12878	blood:	n/a	n/a
45	CTCF	chr6:27094537-27095482	A549	lung:	n/a	chr6:27094800-27094813
46	RAD21	chr6:27094609-27095434	HCT-116	colon:	n/a	n/a
47	POLR2A	chr6:27093591-27103310	K562	blood:	n/a	n/a
48	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
49	POLR2A	chr6:27091108-27108432	K562	blood:	n/a	n/a
50	SIN3AK20	chr6:27092784-27095457	K562	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27094600..27095740-chr6:27125386..27126369,4	K562	blood:
2	chr6:26156681..26159692-chr6:27093069..27096380,3	MCF-7	breast:
3	chr6:26224009..26225707-chr6:27094539..27096493,2	MCF-7	breast:
4	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
5	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
6	chr6:27094500..27095526-chr6:27124814..27125750,5	MCF-7	breast:
7	chr6:26599531..26602687-chr6:27093072..27095909,3	K562	blood:
8	chr6:26596769..26598770-chr6:27093796..27095470,2	K562	blood:
9	chr6:27094540..27095379-chr6:27125291..27126127,4	MCF-7	breast:
10	chr6:26024161..26035534-chr6:27093020..27104638,25	K562	blood:
11	chr6:26607555..26608114-chr6:27094709..27095480,2	MCF-7	breast:
12	chr6:27089071..27092058-chr6:27093016..27095845,2	MCF-7	breast:
13	chr6:26603403..26605480-chr6:27094143..27096233,2	K562	blood:
14	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
15	chr15:63892320..63893319-chr6:27094305..27095302,2	Hela-S3	cervix:
16	chr6:27084356..27088365-chr6:27093402..27096138,4	MCF-7	breast:
17	chr6:27094718..27095470-chr6:27107120..27107643,3	K562	blood:
18	chr6:27094663..27097464-chr6:27862013..27864702,2	MCF-7	breast:
19	chr6:26599209..26601665-chr6:27091751..27095909,4	K562	blood:
20	chr6:26105781..26107320-chr6:27094298..27096352,2	K562	blood:
21	chr3:70826846..70827691-chr6:27094618..27095227,2	MCF-7	breast:
22	chr6:27093424..27098962-chr6:27860703..27864074,5	MCF-7	breast:
23	chr6:27064276..27066861-chr6:27093581..27096436,2	K562	blood:
24	chr6:26056175..26058323-chr6:27092901..27095536,2	MCF-7	breast:
25	chr6:26122447..26124333-chr6:27093704..27095488,2	K562	blood:
26	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
27	chr6:27093668..27096493-chr6:27511465..27514184,2	K562	blood:
28	chr6:27059680..27061954-chr6:27093717..27096433,2	K562	blood:
29	chr6:26609807..26612099-chr6:27094716..27096444,2	K562	blood:
30	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
31	chr6:27076541..27078211-chr6:27093060..27094985,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272468	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000222800	Chromatin interaction
ENSG00000259248	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000272468	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000198518	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10484392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1102566	1.00[AMR][1000 genomes]
rs1102568	1.00[AMR][1000 genomes]
rs11753245	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11753378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11753580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755519	1.00[AMR][1000 genomes]
rs11755651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11756304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11757963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11759167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11759771	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894241	1.00[AMR][1000 genomes]
rs16894520	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895602	1.00[AMR][1000 genomes]
rs16897417	1.00[AMR][1000 genomes]
rs2021278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2022271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092113	1.00[AMR][1000 genomes]
rs55656206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55867104	0.92[AFR][1000 genomes];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]
rs58130043	1.00[AMR][1000 genomes]
rs58265076	1.00[AMR][1000 genomes]
rs58900251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58977511	1.00[AMR][1000 genomes]
rs59757260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60259667	1.00[AMR][1000 genomes]
rs61185098	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61392315	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]
rs73738738	1.00[AMR][1000 genomes]
rs73738739	1.00[AMR][1000 genomes]
rs73738741	1.00[AMR][1000 genomes]
rs73738749	1.00[AMR][1000 genomes]
rs73739510	1.00[AMR][1000 genomes]
rs73739515	1.00[AMR][1000 genomes]
rs73739517	1.00[AMR][1000 genomes]
rs73739519	1.00[AMR][1000 genomes]
rs73739521	1.00[AMR][1000 genomes]
rs73739522	1.00[AMR][1000 genomes]
rs73739531	1.00[AMR][1000 genomes]
rs73739534	1.00[AMR][1000 genomes]
rs73739545	1.00[AMR][1000 genomes]
rs73739557	1.00[AMR][1000 genomes]
rs73739578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739595	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740278	1.00[AMR][1000 genomes]
rs73740404	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740432	1.00[AMR][1000 genomes]
rs7449898	1.00[AMR][1000 genomes]
rs7755679	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27086400-27099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:27090800-27098800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:27091800-27097000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27092000-27094800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:27092600-27095000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:27094000-27094800	Genic enhancers	K562	blood
7	chr6:27094000-27096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:27094200-27095200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:27094200-27095400	Active TSS	Colon Smooth Muscle	Colon
10	chr6:27094200-27096200	Flanking Active TSS	Dnd41	blood
11	chr6:27094400-27094800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:27094400-27094800	Enhancers	Brain Hippocampus Middle	brain
13	chr6:27094400-27094800	Enhancers	Fetal Lung	lung
14	chr6:27094400-27094800	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:27094400-27094800	Flanking Active TSS	HSMM	muscle
16	chr6:27094400-27094800	Enhancers	NHDF-Ad	bronchial
17	chr6:27094400-27095000	Enhancers	Left Ventricle	heart
18	chr6:27094400-27095200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:27094400-27095400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:27094400-27095400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:27094400-27095400	Enhancers	Fetal Heart	heart
22	chr6:27094400-27095400	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:27094400-27095600	Active TSS	A549	lung
24	chr6:27094400-27095800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr6:27094600-27094800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:27094600-27094800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:27094600-27094800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:27094600-27094800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr6:27094600-27094800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:27094600-27094800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:27094600-27094800	Enhancers	Brain Germinal Matrix	brain
32	chr6:27094600-27094800	Enhancers	Colonic Mucosa	Colon
33	chr6:27094600-27094800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:27094600-27094800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:27094600-27094800	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr6:27094600-27094800	Enhancers	Fetal Muscle Leg	muscle
37	chr6:27094600-27094800	Enhancers	Placenta	Placenta
38	chr6:27094600-27094800	Enhancers	Fetal Stomach	stomach
39	chr6:27094600-27094800	Flanking Active TSS	Fetal Thymus	thymus
40	chr6:27094600-27094800	Flanking Active TSS	Thymus	Thymus
41	chr6:27094600-27094800	Flanking Active TSS	HepG2	liver
42	chr6:27094600-27094800	Flanking Active TSS	HUVEC	blood vessel
43	chr6:27094600-27094800	Flanking Active TSS	NHEK	skin
44	chr6:27094600-27095000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:27094600-27095000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:27094600-27095000	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:27094600-27095000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr6:27094600-27095000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:27094600-27095000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:27094600-27095000	Enhancers	Fetal Intestine Small	intestine

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