Variant report

Variant	rs2032917
Chromosome Location	chr16:31075708-31075709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31075688-31075724	K562	blood:	n/a	n/a

No data

(count:5 , 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	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
4	chr16:31062123..31065063-chr16:31072839..31075736,2	MCF-7	breast:
5	chr16:31073574..31075924-chr16:31127907..31130567,2	K562	blood:

No data

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11150605	1.00[EUR][1000 genomes]
rs11649138	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs1549300	1.00[EUR][1000 genomes]
rs17878338	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17878521	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17883591	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17886199	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4435271	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs4889515	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs4889529	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889531	1.00[ASW][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889532	0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889533	1.00[ASW][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889535	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889605	0.87[YRI][hapmap]
rs4889613	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889615	1.00[ASW][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59645185	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs61747561	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs6565212	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs6565215	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6565218	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6565221	1.00[CHD][hapmap]
rs7184697	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7194921	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs7405418	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7499974	1.00[EUR][1000 genomes]
rs8045936	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs8056076	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8057433	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs889550	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs889553	1.00[ASW][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9924071	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs9925932	1.00[EUR][1000 genomes]
rs9926903	1.00[EUR][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	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
3	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
5	chr16:31054200-31076200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:31063800-31076200	Weak transcription	K562	blood
7	chr16:31069000-31076200	Strong transcription	Fetal Intestine Small	intestine
8	chr16:31070400-31082600	Weak transcription	Fetal Brain Male	brain
9	chr16:31071000-31075800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:31071000-31075800	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr16:31071000-31076400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:31071000-31076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:31071200-31076600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:31071400-31076000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:31071400-31076000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:31071600-31075800	Strong transcription	Fetal Brain Female	brain
17	chr16:31071600-31076000	Strong transcription	Dnd41	blood
18	chr16:31071800-31075800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:31071800-31076600	Strong transcription	Brain Germinal Matrix	brain
20	chr16:31072000-31076200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:31072000-31076600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:31072200-31075800	Strong transcription	Pancreas	Pancrea
23	chr16:31072200-31075800	Weak transcription	Hela-S3	cervix
24	chr16:31072200-31076200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr16:31072800-31076400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:31073200-31076800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:31073400-31075800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr16:31073600-31075800	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:31073600-31076600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:31073600-31082800	Weak transcription	HepG2	liver
31	chr16:31073600-31083000	Weak transcription	Small Intestine	intestine
32	chr16:31073600-31083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:31073600-31083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:31073600-31083200	Weak transcription	Brain Substantia Nigra	brain
35	chr16:31073800-31083400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:31074200-31076800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:31074400-31075800	Strong transcription	A549	lung
38	chr16:31074400-31076600	Enhancers	Primary hematopoietic stem cells	blood
39	chr16:31074400-31078000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:31074600-31075800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr16:31074600-31075800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr16:31074600-31075800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:31074600-31076400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr16:31074800-31075800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr16:31074800-31075800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:31074800-31075800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
47	chr16:31074800-31075800	Genic enhancers	Placenta	Placenta
48	chr16:31074800-31075800	Genic enhancers	Fetal Thymus	thymus
49	chr16:31074800-31075800	Genic enhancers	Lung	lung
50	chr16:31074800-31075800	Genic enhancers	NHLF	lung

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