Variant report

Variant	rs6921711
Chromosome Location	chr6:27094019-27094020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:27093960-27094110	NHEK	skin:	n/a	n/a
2	POLR2A	chr6:27094012-27094164	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr6:27089622-27095811	K562	blood:	n/a	n/a
4	POLR2A	chr6:27093575-27094948	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:27093993-27094398	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr6:27093809-27095766	K562	blood:	n/a	n/a
7	CEBPD	chr6:27092804-27098453	K562	blood:	n/a	n/a
8	CBX3	chr6:27093752-27095524	K562	blood:	n/a	n/a
9	EGR1	chr6:27093684-27094748	K562	blood:	n/a	n/a
10	STAT5A	chr6:27093841-27094687	K562	blood:	n/a	n/a
11	POLR2A	chr6:27086098-27108353	K562	blood:	n/a	n/a
12	POLR2A	chr6:27093910-27095385	K562	blood:	n/a	n/a
13	GATA2	chr6:27093678-27095273	K562	blood:	n/a	n/a
14	WRNIP1	chr6:27094001-27094276	GM12878	blood:	n/a	n/a
15	MAZ	chr6:27094001-27095380	IMR90	lung:	n/a	n/a
16	POLR2A	chr6:27093591-27103310	K562	blood:	n/a	n/a
17	YY1	chr6:27093889-27094300	K562	blood:	n/a	n/a
18	USF2	chr6:27093895-27094394	K562	blood:	n/a	n/a
19	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
20	POLR2A	chr6:27091108-27108432	K562	blood:	n/a	n/a
21	SIN3AK20	chr6:27092784-27095457	K562	blood:	n/a	n/a
22	CREB1	chr6:27093773-27095378	K562	blood:	n/a	n/a
23	POLR2A	chr6:27093947-27094245	K562	blood:	n/a	n/a
24	MAX	chr6:27093982-27094354	K562	blood:	n/a	n/a
25	PML	chr6:27092784-27095969	K562	blood:	n/a	chr6:27094182-27094190 chr6:27093420-27093428
26	HEY1	chr6:27093834-27095483	K562	blood:	n/a	n/a
27	POLR2A	chr6:27091828-27108321	K562	blood:	n/a	n/a
28	POLR2A	chr6:27093814-27095472	K562	blood:	n/a	n/a
29	NR2F2	chr6:27089798-27097632	K562	blood:	n/a	n/a
30	MEF2A	chr6:27093862-27095465	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26156681..26159692-chr6:27093069..27096380,3	MCF-7	breast:
2	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
3	chr6:26599531..26602687-chr6:27093072..27095909,3	K562	blood:
4	chr6:26596769..26598770-chr6:27093796..27095470,2	K562	blood:
5	chr6:26024161..26035534-chr6:27093020..27104638,25	K562	blood:
6	chr6:27089071..27092058-chr6:27093016..27095845,2	MCF-7	breast:
7	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
8	chr6:26205087..26206759-chr6:27091982..27094025,2	MCF-7	breast:
9	chr6:27084356..27088365-chr6:27093402..27096138,4	MCF-7	breast:
10	chr6:26599209..26601665-chr6:27091751..27095909,4	K562	blood:
11	chr6:27093424..27098962-chr6:27860703..27864074,5	MCF-7	breast:
12	chr6:27064276..27066861-chr6:27093581..27096436,2	K562	blood:
13	chr6:26056175..26058323-chr6:27092901..27095536,2	MCF-7	breast:
14	chr6:26122447..26124333-chr6:27093704..27095488,2	K562	blood:
15	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
16	chr6:27093668..27096493-chr6:27511465..27514184,2	K562	blood:
17	chr6:27059680..27061954-chr6:27093717..27096433,2	K562	blood:
18	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
19	chr6:27076541..27078211-chr6:27093060..27094985,2	MCF-7	breast:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11755662	1.00[JPT][hapmap]
rs11967487	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11968996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11969113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12661273	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12663161	0.92[ASN][1000 genomes]
rs12664426	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12665480	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13211166	1.00[JPT][hapmap]
rs16894368	0.88[ASW][hapmap];0.83[CHD][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs16897515	1.00[JPT][hapmap]
rs2893910	1.00[JPT][hapmap]
rs3800316	1.00[JPT][hapmap]
rs3800318	1.00[JPT][hapmap]
rs56824660	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57493110	0.87[AFR][1000 genomes]
rs58678580	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6919033	0.88[ASW][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6938200	1.00[JPT][hapmap]
rs73384370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73384380	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384391	0.90[AFR][1000 genomes]
rs73386672	0.87[AFR][1000 genomes]
rs73399191	0.92[ASN][1000 genomes]
rs73399199	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73401122	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73401133	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73401144	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7741445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.92[ASN][1000 genomes]
rs7746199	1.00[JPT][hapmap]
rs7765489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9393796	0.81[LWK][hapmap];0.88[MKK][hapmap]

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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6921711	RP11-457M11.5	cis	Muscle Skeletal	GTEx
rs6921711	HIST1H2AL	cis	cerebellum	SCAN
rs6921711	RP11-457M11.5	cis	Esophagus Mucosa	GTEx
rs6921711	RP11-457M11.5	cis	Artery Tibial	GTEx
rs6921711	RP11-457M11.5	cis	Nerve Tibial	GTEx
rs6921711	RP11-457M11.5	cis	Whole Blood	GTEx
rs6921711	RP11-457M11.5	cis	Stomach	GTEx
rs6921711	HIST1H2BK	cis	cerebellum	SCAN
rs6921711	RP11-457M11.5	cis	lung	GTEx
rs6921711	GUSBP2	cis	lung	GTEx
rs6921711	RP11-457M11.5	cis	Adipose Subcutaneous	GTEx
rs6921711	RP11-457M11.5	cis	Skin Sun Exposed Lower leg	GTEx
rs6921711	BTN2A3	cis	cerebellum	SCAN
rs6921711	RP11-457M11.5	cis	Thyroid	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27080800-27094400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:27081200-27094600	Weak transcription	Psoas Muscle	Psoas
3	chr6:27083000-27094400	Weak transcription	Hela-S3	cervix
4	chr6:27085800-27094400	Weak transcription	Fetal Heart	heart
5	chr6:27086200-27094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:27086200-27094400	Weak transcription	Left Ventricle	heart
7	chr6:27086400-27099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:27087000-27094400	Weak transcription	A549	lung
9	chr6:27087600-27094400	Weak transcription	Fetal Lung	lung
10	chr6:27087800-27094400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:27088200-27094400	Weak transcription	Thymus	Thymus
12	chr6:27088800-27094200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:27088800-27094400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:27089000-27094400	Weak transcription	Primary T cells from cord blood	blood
15	chr6:27089000-27094600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:27089200-27094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:27089200-27094400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:27089200-27094600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:27089200-27094600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:27089200-27094600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:27089200-27094600	Weak transcription	NHEK	skin
22	chr6:27089400-27094600	Weak transcription	Fetal Intestine Large	intestine
23	chr6:27090400-27094400	Weak transcription	HSMMtube	muscle
24	chr6:27090800-27098800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:27091000-27094600	Weak transcription	Placenta	Placenta
26	chr6:27091400-27094600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:27091600-27094600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:27091800-27097000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:27092000-27094800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:27092200-27094400	Weak transcription	NH-A	brain
31	chr6:27092400-27094600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:27092600-27094400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:27092600-27095000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:27093200-27094400	Weak transcription	HSMM	muscle
35	chr6:27093200-27094600	Weak transcription	Aorta	Aorta
36	chr6:27093200-27094600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:27093600-27094400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:27093800-27094200	Enhancers	Dnd41	blood
39	chr6:27094000-27094400	Genic enhancers	GM12878-XiMat	blood
40	chr6:27094000-27094600	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:27094000-27094600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:27094000-27094600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:27094000-27094600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:27094000-27094600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:27094000-27094600	Enhancers	Fetal Thymus	thymus
46	chr6:27094000-27094800	Genic enhancers	K562	blood
47	chr6:27094000-27096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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