Variant report

Variant	rs73739591
Chromosome Location	chr6:27095421-27095422
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27094816-27095440	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr6:27089622-27095811	K562	blood:	n/a	n/a
3	RAD21	chr6:27094378-27095456	SK-N-SH	brain:	n/a	n/a
4	CHD1	chr6:27094783-27095644	GM12878	blood:	n/a	n/a
5	TEAD4	chr6:27093809-27095766	K562	blood:	n/a	n/a
6	EP300	chr6:27094866-27095477	K562	blood:	n/a	chr6:27095233-27095247
7	CEBPD	chr6:27092804-27098453	K562	blood:	n/a	n/a
8	CBX3	chr6:27093752-27095524	K562	blood:	n/a	n/a
9	CTCF	chr6:27094463-27095527	HCT-116	colon:	n/a	chr6:27094800-27094813
10	SIN3AK20	chr6:27094727-27095472	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:27086098-27108353	K562	blood:	n/a	n/a
12	CHD1	chr6:27094411-27095581	IMR90	lung:	n/a	n/a
13	CTCF	chr6:27094096-27095617	SK-N-SH	brain:	n/a	chr6:27094800-27094813
14	SMC3	chr6:27094434-27095421	SK-N-SH	brain:	n/a	n/a
15	BCLAF1	chr6:27094726-27095844	K562	blood:	n/a	n/a
16	NFIC	chr6:27094542-27095431	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:27094765-27095428	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr6:27094537-27095482	A549	lung:	n/a	chr6:27094800-27094813
19	RAD21	chr6:27094609-27095434	HCT-116	colon:	n/a	n/a
20	POLR2A	chr6:27093591-27103310	K562	blood:	n/a	n/a
21	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
22	POLR2A	chr6:27091108-27108432	K562	blood:	n/a	n/a
23	SIN3AK20	chr6:27092784-27095457	K562	blood:	n/a	n/a
24	RCOR1	chr6:27094852-27095477	GM12878	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	PML	chr6:27094607-27095442	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:27094777-27095516	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr6:27093814-27095472	K562	blood:	n/a	n/a
31	NR2F2	chr6:27089798-27097632	K562	blood:	n/a	n/a
32	MXI1	chr6:27094146-27095668	K562	blood:	n/a	n/a
33	MEF2A	chr6:27093862-27095465	K562	blood:	n/a	n/a

No data

(count:33 , 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	chr6:26572187..26574794-chr6:27094874..27097945,3	K562	blood:
4	chr6:26224009..26225707-chr6:27094539..27096493,2	MCF-7	breast:
5	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
6	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
7	chr6:27094500..27095526-chr6:27124814..27125750,5	MCF-7	breast:
8	chr6:26599531..26602687-chr6:27093072..27095909,3	K562	blood:
9	chr6:26155271..26161648-chr6:27095163..27104437,21	K562	blood:
10	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
11	chr6:26596769..26598770-chr6:27093796..27095470,2	K562	blood:
12	chr6:27094885..27095453-chr6:27759406..27760023,3	K562	blood:
13	chr6:26024161..26035534-chr6:27093020..27104638,25	K562	blood:
14	chr6:26607555..26608114-chr6:27094709..27095480,2	MCF-7	breast:
15	chr6:27089071..27092058-chr6:27093016..27095845,2	MCF-7	breast:
16	chr6:26603403..26605480-chr6:27094143..27096233,2	K562	blood:
17	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
18	chr6:27084356..27088365-chr6:27093402..27096138,4	MCF-7	breast:
19	chr6:27094718..27095470-chr6:27107120..27107643,3	K562	blood:
20	chr6:27094663..27097464-chr6:27862013..27864702,2	MCF-7	breast:
21	chr6:26599209..26601665-chr6:27091751..27095909,4	K562	blood:
22	chr6:26105781..26107320-chr6:27094298..27096352,2	K562	blood:
23	chr6:27093424..27098962-chr6:27860703..27864074,5	MCF-7	breast:
24	chr6:27064276..27066861-chr6:27093581..27096436,2	K562	blood:
25	chr6:26056175..26058323-chr6:27092901..27095536,2	MCF-7	breast:
26	chr6:26122447..26124333-chr6:27093704..27095488,2	K562	blood:
27	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
28	chr6:27093668..27096493-chr6:27511465..27514184,2	K562	blood:
29	chr6:27059680..27061954-chr6:27093717..27096433,2	K562	blood:
30	chr6:27095110..27096779-chr6:27740302..27742676,2	K562	blood:
31	chr6:26609807..26612099-chr6:27094716..27096444,2	K562	blood:
32	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
33	chr6:26022793..26025661-chr6:27094835..27096560,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AG-4	chr6:27095129-27096421	l_3147_NR_026775
2	lnc-HIST1H2BJ-5	chr6:27095286-27095862	l_3148_chr6:27068165-27095862_brain

No data

Variant related genes	Relation type
ENSG00000272468	TF binding region
ENSG00000197153	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000272468	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000217862	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10484392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1102566	1.00[AMR][1000 genomes]
rs1102568	1.00[AMR][1000 genomes]
rs11753245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11753378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11753580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755519	1.00[AMR][1000 genomes]
rs11755651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11755813	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11756304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11757963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11759167	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11759771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894241	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895602	1.00[AMR][1000 genomes]
rs16897417	1.00[AMR][1000 genomes]
rs2021278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2022271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092113	1.00[AMR][1000 genomes]
rs55656206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55867104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55925824	1.00[AMR][1000 genomes]
rs56065824	0.81[AFR][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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58977511	1.00[AMR][1000 genomes]
rs59757260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60259667	1.00[AMR][1000 genomes]
rs61185098	1.00[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739519	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739522	1.00[AMR][1000 genomes]
rs73739531	1.00[AMR][1000 genomes]
rs73739534	1.00[AMR][1000 genomes]
rs73739545	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739578	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739581	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739582	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739587	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73739600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740278	1.00[AMR][1000 genomes]
rs73740404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740432	0.82[AFR][1000 genomes];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:89 , 50 per page) page: 1 2

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	chr6:27094000-27096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:27094200-27096200	Flanking Active TSS	Dnd41	blood
6	chr6:27094400-27095600	Active TSS	A549	lung
7	chr6:27094400-27095800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:27094600-27095600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:27094600-27095600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:27094600-27095600	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:27094600-27095600	Active TSS	HSMMtube	muscle
12	chr6:27094600-27095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:27094800-27095600	Active TSS	Fetal Lung	lung
14	chr6:27095200-27095600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:27095200-27095600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:27095200-27095600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:27095200-27095600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:27095200-27095600	Flanking Active TSS	Hela-S3	cervix
19	chr6:27095200-27095600	Flanking Active TSS	HMEC	breast
20	chr6:27095200-27095800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:27095200-27095800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:27095200-27099000	Weak transcription	Stomach Mucosa	stomach
23	chr6:27095200-27099200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:27095200-27099200	Weak transcription	Pancreas	Pancrea
25	chr6:27095200-27099200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:27095400-27095600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:27095400-27095600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:27095400-27095600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:27095400-27095600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:27095400-27095600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:27095400-27095600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:27095400-27095600	Enhancers	HUVEC	blood vessel
33	chr6:27095400-27095600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:27095400-27095600	Flanking Active TSS	NH-A	brain
35	chr6:27095400-27095600	Enhancers	NHLF	lung
36	chr6:27095400-27095800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:27095400-27095800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:27095400-27095800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:27095400-27095800	Flanking Active TSS	GM12878-XiMat	blood
40	chr6:27095400-27096200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:27095400-27096200	Active TSS	K562	blood
42	chr6:27095400-27096600	Enhancers	Fetal Thymus	thymus
43	chr6:27095400-27097200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:27095400-27097200	Weak transcription	Thymus	Thymus
45	chr6:27095400-27097400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:27095400-27097400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:27095400-27097800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:27095400-27098000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:27095400-27098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:27095400-27098000	Weak transcription	Fetal Intestine Small	intestine

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