Variant report

Variant	rs34452669
Chromosome Location	chr6:27782009-27782010
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27781476-27784189	ProgFib	skin:	n/a	n/a
2	MAX	chr6:27781627-27782161	A549	lung:	n/a	chr6:27781903-27781916 chr6:27781903-27781913 chr6:27781905-27781912 chr6:27781907-27781914
3	POLR2A	chr6:27781096-27784165	GM18505	blood:	n/a	n/a
4	JUND	chr6:27781983-27782187	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr6:27781728-27782162	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr6:27781475-27782245	MCF-7	breast:	n/a	n/a
7	WRNIP1	chr6:27781985-27782184	GM12878	blood:	n/a	n/a
8	MXI1	chr6:27781745-27782009	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:27781361-27783350	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:27781536-27783771	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr6:27781864-27782064	MCF10A-Er-Src	breast:	n/a	chr6:27781903-27781916 chr6:27781903-27781913 chr6:27781905-27781912 chr6:27781907-27781914
12	POLR2A	chr6:27781320-27783475	U87	brain:	n/a	n/a
13	FOXA1	chr6:27781683-27782564	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:27781681-27782231	HCT-116	colon:	n/a	n/a
15	FOSL2	chr6:27781949-27782702	HepG2	liver:	n/a	n/a
16	ETS1	chr6:27781871-27782145	A549	lung:	n/a	n/a
17	MXI1	chr6:27781799-27782167	Hela-S3	cervix:	n/a	n/a
18	FOXA1	chr6:27781755-27782241	HepG2	liver:	n/a	n/a
19	BCLAF1	chr6:27781518-27782240	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:27779808-27783925	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr6:27781417-27782244	GM12878	blood:	n/a	n/a
22	ETS1	chr6:27781593-27782259	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:27781403-27783773	GM12891	blood:	n/a	n/a
24	POLR2A	chr6:27781745-27782632	Gliobla	brain:	n/a	n/a
25	POLR2A	chr6:27781061-27783247	Hela-S3	cervix:	n/a	n/a
26	FOXM1	chr6:27781391-27783896	GM12878	blood:	n/a	n/a
27	KAT2A	chr6:27781511-27782086	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:27781286-27783860	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr6:27781646-27783336	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:27780777-27784258	GM12878	blood:	n/a	n/a
31	MYBL2	chr6:27781455-27783474	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:27781498-27782898	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF7L2	chr6:27781738-27782166	Hela-S3	cervix:	n/a	n/a
34	MYC	chr6:27781567-27782099	MCF10A-Er-Src	breast:	n/a	chr6:27781903-27781916 chr6:27781903-27781913 chr6:27781905-27781912 chr6:27781907-27781914
35	POLR2A	chr6:27781970-27782625	A549	lung:	n/a	n/a
36	TEAD4	chr6:27781419-27783062	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:27781293-27783971	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr6:27781474-27784000	Raji	blood:	n/a	n/a
39	ATF2	chr6:27780520-27782252	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF3	chr6:27781660-27783345	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:27781507-27783878	GM12891	blood:	n/a	n/a
42	MTA3	chr6:27781294-27782271	GM12878	blood:	n/a	n/a
43	GTF2F1	chr6:27781748-27782888	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:27781453-27782994	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr6:27781970-27783176	GM12878	blood:	n/a	chr6:27781981-27781991
46	POLR2A	chr6:27781314-27782299	U87	brain:	n/a	n/a
47	CHD2	chr6:27781713-27782998	Hela-S3	cervix:	n/a	n/a
48	JUND	chr6:27782007-27782613	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:27781310-27783784	GM12892	blood:	n/a	n/a
50	TAF7	chr6:27776220-27782251	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27781472..27782191-chrX:153639680..153640261,2	Hela-S3	cervix:
2	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
3	chr6:27121049..27122918-chr6:27780624..27782591,2	K562	blood:
4	chr6:27100161..27102247-chr6:27781053..27784459,3	MCF-7	breast:
5	chr6:26043139..26044932-chr6:27781664..27783621,2	MCF-7	breast:
6	chr6:27780572..27782800-chr6:28000600..28002491,2	K562	blood:
7	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
8	chr6:26182173..26185335-chr6:27780962..27783737,3	MCF-7	breast:
9	chr6:27780093..27783062-chr6:28322537..28324933,2	K562	blood:
10	chr22:39639283..39641253-chr6:27780476..27782523,2	MCF-7	breast:
11	chr6:26155301..26160613-chr6:27781458..27785146,6	MCF-7	breast:
12	chr6:27735339..27736956-chr6:27780482..27782528,2	MCF-7	breast:
13	chr6:26215420..26218815-chr6:27778137..27782519,4	MCF-7	breast:
14	chr6:26270120..26272852-chr6:27781048..27782550,2	MCF-7	breast:
15	chr6:27114761..27115391-chr6:27781503..27782495,2	MCF-7	breast:
16	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
17	chr19:4910164..4910980-chr6:27782001..27782558,2	Hela-S3	cervix:
18	chr14:50360748..50362571-chr6:27780404..27782536,2	MCF-7	breast:
19	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
20	chr6:26233018..26235518-chr6:27781228..27784528,3	MCF-7	breast:
21	chr6:27113704..27115641-chr6:27781150..27784385,3	MCF-7	breast:
22	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
23	chr6:26286125..26287830-chr6:27780556..27782142,2	K562	blood:
24	chr6:26122193..26124669-chr6:27781205..27782892,3	MCF-7	breast:
25	chr6:26198554..26201743-chr6:27781165..27784293,4	MCF-7	breast:
26	chr14:64969586..64971373-chr6:27781788..27783642,2	MCF-7	breast:
27	chr10:35625339..35626160-chr6:27781449..27782425,2	HCT-116	colon:
28	chr6:26020260..26024010-chr6:27780504..27784636,5	MCF-7	breast:
29	chr6:27781952..27782555-chr6:27805029..27805895,2	Hela-S3	cervix:
30	chr6:27104887..27109324-chr6:27780147..27783327,4	MCF-7	breast:
31	chr17:39845026..39845560-chr6:27781945..27782733,2	Hela-S3	cervix:
32	chr15:72522738..72523426-chr6:27781752..27782254,2	Hela-S3	cervix:
33	chr6:26188383..26190588-chr6:27780169..27782102,2	MCF-7	breast:
34	chr6:26198117..26201141-chr6:27779644..27782076,3	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BM	TF binding region
ENSG00000197409	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000108100	Chromatin interaction
ENSG00000218281	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000217315	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000034063	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000234816	Chromatin interaction
ENSG00000100311	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16867983	0.81[ASN][1000 genomes]
rs1844435	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3175123	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800321	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9295751	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9348777	0.85[ASN][1000 genomes]
rs9348778	0.86[ASN][1000 genomes]
rs9348780	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9357048	0.83[ASN][1000 genomes]
rs9366707	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9366708	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380022	0.81[EUR][1000 genomes]
rs9380024	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9393856	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:27778000-27782200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:27778200-27782400	Weak transcription	Spleen	Spleen
4	chr6:27778400-27782400	Weak transcription	Lung	lung
5	chr6:27778400-27782400	Weak transcription	Pancreas	Pancrea
6	chr6:27778600-27782600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:27779000-27782400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:27779400-27782400	Weak transcription	Stomach Mucosa	stomach
9	chr6:27779600-27782600	Weak transcription	Fetal Heart	heart
10	chr6:27780200-27784000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:27780400-27783800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27780800-27782800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:27780800-27784200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:27781000-27782400	Weak transcription	Right Atrium	heart
15	chr6:27781000-27783000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:27781000-27783400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:27781000-27784400	Active TSS	Brain Germinal Matrix	brain
18	chr6:27781200-27783600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr6:27781200-27783600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:27781200-27784000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:27781200-27784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:27781200-27784400	Active TSS	A549	lung
23	chr6:27781400-27782200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:27781400-27782200	Flanking Active TSS	NHEK	skin
25	chr6:27781400-27782800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:27781600-27782200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:27781600-27782200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:27781600-27782200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:27781600-27782200	Flanking Active TSS	HMEC	breast
30	chr6:27781600-27782200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:27781600-27782800	Active TSS	Fetal Muscle Trunk	muscle
32	chr6:27781600-27783000	Active TSS	Fetal Muscle Leg	muscle
33	chr6:27781600-27783200	Active TSS	Fetal Stomach	stomach
34	chr6:27781600-27783200	Active TSS	NH-A	brain
35	chr6:27781600-27783600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:27781600-27783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:27781600-27783600	Active TSS	Fetal Brain Female	brain
38	chr6:27781600-27783800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:27781600-27784000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:27781600-27784000	Active TSS	Thymus	Thymus
41	chr6:27781800-27782200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:27781800-27782200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:27781800-27782200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:27781800-27782200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:27781800-27782200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:27781800-27782200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:27781800-27782200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr6:27781800-27782200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:27781800-27782200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr6:27781800-27782200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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