Variant report

Variant	rs34107331
Chromosome Location	chr16:31075439-31075440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
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	chr16:31075405-31075508	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:31075435-31075501	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31072499..31076258-chr16:31082404..31085688,4	K562	blood:
2	chr16:31053220..31057176-chr16:31073803..31076480,4	MCF-7	breast:
3	chr16:31073473..31075670-chr16:31469255..31471043,2	MCF-7	breast:
4	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
5	chr16:31062123..31065063-chr16:31072839..31075736,2	MCF-7	breast:
6	chr16:31073574..31075924-chr16:31127907..31130567,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261124	TF binding region
ENSG00000103510	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260911	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000103496	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13331793	1.00[AMR][1000 genomes]
rs13339393	1.00[AMR][1000 genomes]
rs17878259	1.00[AFR][1000 genomes]
rs28428182	1.00[AMR][1000 genomes]
rs28637378	1.00[AMR][1000 genomes]
rs34259949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34831291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34889904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55886037	0.82[AFR][1000 genomes]
rs56196402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59076556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61237574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015071	1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[AMR][1000 genomes]
rs9922051	1.00[AMR][1000 genomes]
rs9933960	1.00[AMR][1000 genomes]
rs9940181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
14	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
2	chr16:31049600-31075600	Weak transcription	Psoas Muscle	Psoas
3	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
4	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
5	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
6	chr16:31054200-31076200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:31063800-31076200	Weak transcription	K562	blood
8	chr16:31069000-31076200	Strong transcription	Fetal Intestine Small	intestine
9	chr16:31069200-31075600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:31070400-31082600	Weak transcription	Fetal Brain Male	brain
11	chr16:31071000-31075600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:31071000-31075800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:31071000-31075800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr16:31071000-31076400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:31071000-31076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:31071200-31075600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:31071200-31075600	Strong transcription	Brain Angular Gyrus	brain
18	chr16:31071200-31076600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:31071400-31075600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:31071400-31076000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:31071400-31076000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:31071600-31075800	Strong transcription	Fetal Brain Female	brain
23	chr16:31071600-31076000	Strong transcription	Dnd41	blood
24	chr16:31071800-31075600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:31071800-31075800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:31071800-31076600	Strong transcription	Brain Germinal Matrix	brain
27	chr16:31072000-31075600	Strong transcription	Brain Anterior Caudate	brain
28	chr16:31072000-31075600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr16:31072000-31076200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:31072000-31076600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:31072200-31075600	Strong transcription	Liver	Liver
32	chr16:31072200-31075800	Strong transcription	Pancreas	Pancrea
33	chr16:31072200-31075800	Weak transcription	Hela-S3	cervix
34	chr16:31072200-31076200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr16:31072800-31076400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:31073200-31076800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr16:31073400-31075800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr16:31073600-31075800	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:31073600-31076600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:31073600-31082800	Weak transcription	HepG2	liver
41	chr16:31073600-31083000	Weak transcription	Small Intestine	intestine
42	chr16:31073600-31083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:31073600-31083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:31073600-31083200	Weak transcription	Brain Substantia Nigra	brain
45	chr16:31073800-31083400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr16:31074200-31076800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:31074400-31075600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:31074400-31075600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:31074400-31075800	Strong transcription	A549	lung
50	chr16:31074400-31076600	Enhancers	Primary hematopoietic stem cells	blood

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