Variant report

Variant	rs34212827
Chromosome Location	chr16:30999434-30999435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30999162-30999584	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr16:30999408-30999748	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30999390-30999440	Caco-2	colon:	n/a
2	chr16:30999390-30999440	HCM	heart:	n/a
3	chr16:30999390-30999440	NHBE	bronchial:	n/a
4	chr16:30999390-30999440	Jurkat	blood:	n/a
5	chr16:30999390-30999440	CMK	blood:	n/a
6	chr16:30999390-30999440	HNPCEpiC	eye:	n/a
7	chr16:30999390-30999440	GM12878	blood:	n/a
8	chr16:30999390-30999440	PFSK-1	brain:	n/a
9	chr16:30999390-30999440	HEK293	kidney:	embryo
10	chr16:30999390-30999440	H1-hESC	embryonic stem cell:	embryo
11	chr16:30999390-30999440	NH-A	brain:	n/a
12	chr16:30999390-30999440	NB4	blood:	n/a
13	chr16:30999390-30999440	SK-N-MC	brain:	n/a
14	chr16:30999390-30999440	HCPEpiC	choroid plexus:	n/a
15	chr16:30999390-30999440	HUVEC	blood vessel:	n/a
16	chr16:30999390-30999440	NT2-D1	testis:	n/a
17	chr16:30999390-30999440	LNCaP	prostate:	n/a
18	chr16:30999390-30999440	AoSMC	blood vessel:	n/a
19	chr16:30999390-30999440	ProgFib	skin:	n/a
20	chr16:30999390-30999440	HepG2	liver:	n/a
21	chr16:30999390-30999440	K562	blood:	n/a
22	chr16:30999390-30999440	HAEpiC	amniotic membrane:	n/a
23	chr16:30999390-30999440	ovcar-3	ovarian:	n/a
24	chr16:30999390-30999440	AG10803	skin:	n/a
25	chr16:30999390-30999440	T-47D	breast:	n/a
26	chr16:30999390-30999440	HRPEpiC	eye:	n/a
27	chr16:30999390-30999440	HPAEpiC	pulmonary alveolar:	n/a
28	chr16:30999390-30999440	SAEC	small airway:	n/a
29	chr16:30999390-30999440	GM06990	blood:	n/a
30	chr16:30999390-30999440	SK-N-SH_RA	brain:	n/a
31	chr16:30999390-30999440	PrEC	prostate:	n/a
32	chr16:30999390-30999440	A549	lung:	n/a
33	chr16:30999390-30999440	HIPEpiC	eye:	n/a
34	chr16:30999390-30999440	AG09319	gingival:	n/a
35	chr16:30999390-30999440	GM12891	blood:	n/a
36	chr16:30999390-30999440	AG09309	skin:	n/a
37	chr16:30999390-30999440	HCT-116	colon:	n/a
38	chr16:30999390-30999440	HRCEpiC	kidney:	n/a
39	chr16:30999390-30999440	RPTEC	kidney:	n/a
40	chr16:30999390-30999440	HL-60	blood:	n/a
41	chr16:30999390-30999440	Hela-S3	cervix:	n/a
42	chr16:30999390-30999440	ECC-1	luminal epithelium:	n/a
43	chr16:30999390-30999440	MCF-7	breast:	n/a
44	chr16:30999390-30999440	SK-N-SH	brain:	n/a
45	chr16:30999390-30999440	GM12892	blood:	n/a
46	chr16:30999390-30999440	IMR90	lung:	fetal
47	chr16:30999390-30999440	HEEpiC	esophagus:	n/a
48	chr16:30999390-30999440	PANC-1	pancreas:	n/a
49	chr16:30999390-30999440	U87	brain:	n/a
50	chr16:30999390-30999440	Hepatocyte	liver:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30997728..30999455-chr16:31087100..31088810,2	K562	blood:
2	chr16:30999038..31001529-chr16:31346351..31348185,2	K562	blood:
3	chr16:30998955..31001579-chr16:31128256..31130602,2	K562	blood:
4	chr16:30994943..30999750-chr16:31190298..31195127,7	K562	blood:
5	chr16:30998679..31000953-chr16:31008665..31011087,2	MCF-7	breast:
6	chr16:30994008..30999750-chr16:31190407..31194686,5	K562	blood:
7	chr16:30993751..31000588-chr16:31082470..31087271,14	MCF-7	breast:
8	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
9	chr16:30997887..31000868-chr16:31122373..31125070,3	MCF-7	breast:
10	chr16:30998751..31001662-chr19:1080974..1083847,2	K562	blood:
11	chr16:30994885..31002476-chr16:31041204..31046530,9	MCF-7	breast:
12	chr16:30968345..30970795-chr16:30996661..31000962,4	MCF-7	breast:
13	chr16:30997926..30999746-chr16:31082542..31084928,2	K562	blood:
14	chr16:30996405..31000424-chr16:31042886..31047088,8	MCF-7	breast:
15	chr16:30998827..31001488-chr16:31044441..31048071,3	K562	blood:
16	chr16:30972417..30975316-chr16:30997871..31001399,3	K562	blood:
17	chr16:30996180..30999637-chr16:31452059..31455505,4	MCF-7	breast:
18	chr16:30985273..30988136-chr16:30998900..31001749,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268863	TF binding region
ENSG00000268863	CpG island
ENSG00000262766	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000180448	Chromatin interaction
ENSG00000260304	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12102485	0.83[AMR][1000 genomes]
rs12445568	0.81[YRI][hapmap]
rs13333418	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1870292	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2077633	1.00[MEX][hapmap]
rs28572417	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405566	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184263	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203711	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs73526635	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048593	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050229	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055067	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061920	0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062731	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929927	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940894	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
7	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
8	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
9	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
10	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
11	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
12	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
13	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
14	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
15	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
16	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	nsv905739	chr16:30991948-31004169	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr16:30993200-31007600	Weak transcription	Small Intestine	intestine
2	chr16:30994400-31007800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:30995400-31001800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:30995600-31008000	Weak transcription	Aorta	Aorta
5	chr16:30996200-30999800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:30996400-31008000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:30996800-31000000	Weak transcription	GM12878-XiMat	blood
8	chr16:30996800-31001000	Weak transcription	Brain Germinal Matrix	brain
9	chr16:30996800-31001200	Weak transcription	Fetal Lung	lung
10	chr16:30996800-31004400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:30996800-31007800	Weak transcription	Fetal Thymus	thymus
12	chr16:30996800-31008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:30997000-31000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:30997000-31001000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:30997000-31002200	Weak transcription	Brain Anterior Caudate	brain
16	chr16:30997000-31002400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:30997000-31004200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr16:30997000-31006600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:30997000-31007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:30997000-31007600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:30997000-31007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:30997000-31007800	Weak transcription	Right Atrium	heart
23	chr16:30997000-31008200	Weak transcription	Brain Substantia Nigra	brain
24	chr16:30997200-31002000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:30997200-31002600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:30997200-31003400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:30997200-31004200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:30997200-31005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:30997200-31007600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:30997200-31007600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:30997200-31007800	Weak transcription	Brain Angular Gyrus	brain
32	chr16:30997400-31000200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:30997400-31007200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:30997400-31007400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:30997400-31007600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:30997400-31007600	Weak transcription	NH-A	brain
37	chr16:30997400-31007600	Weak transcription	Osteobl	bone
38	chr16:30997400-31008000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr16:30997600-31000200	Strong transcription	NHLF	lung
40	chr16:30997600-31000400	Strong transcription	Fetal Intestine Small	intestine
41	chr16:30997600-31000400	Strong transcription	Fetal Stomach	stomach
42	chr16:30997600-31007200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr16:30997600-31007600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:30997600-31007600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:30997600-31008000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:30997600-31008200	Weak transcription	Lung	lung
47	chr16:30997600-31013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:30997800-30999600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:30997800-30999600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:30997800-30999800	Strong transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links