Variant report

Variant	rs885107
Chromosome Location	chr16:30672719-30672720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30671057-30673269	GM12878	blood:	n/a	n/a
2	STAT5A	chr16:30672439-30673032	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:30668106-30672800	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:30671843-30672941	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:30668198-30673294	GM12878	blood:	n/a	n/a
6	MTA3	chr16:30671719-30672794	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:30672304-30672949	HepG2	liver:	n/a	n/a
8	WRNIP1	chr16:30671897-30673073	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:30670859-30672818	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:30671969-30672820	GM12878	blood:	n/a	n/a
11	PML	chr16:30670907-30672906	GM12878	blood:	n/a	n/a
12	MTA3	chr16:30671033-30672881	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:30672064-30672783	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:30672633-30672895	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30534881..30538738-chr16:30669014..30672874,5	MCF-7	breast:
2	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
3	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
4	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
5	chr16:30671278..30673717-chr16:30785023..30788710,4	MCF-7	breast:
6	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
7	chr16:30455687..30457449-chr16:30670431..30673736,3	MCF-7	breast:
8	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
9	chr16:30671487..30673418-chr16:30969039..30970586,2	K562	blood:
10	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
11	chr16:30670901..30672764-chr20:45946982..45948705,2	MCF-7	breast:
12	chr16:30670913..30673780-chr16:30684113..30687198,4	MCF-7	breast:
13	chr16:30635973..30637940-chr16:30671557..30674235,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBRS	TF binding region
ENSG00000260852	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000252074	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000261680	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11150596	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs11864054	0.88[CHD][hapmap];0.90[MKK][hapmap]
rs12918327	0.94[CHD][hapmap]
rs12926237	0.86[JPT][hapmap]
rs13338946	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289442	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs35629860	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35969813	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747481	0.82[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747486	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3812999	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs4616297	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889490	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4889614	0.90[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs67128646	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67456513	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7186852	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs7187359	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7197475	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs7197770	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7198250	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs7204278	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7500719	0.88[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs8046001	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs8046391	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs8048448	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051050	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8055315	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8055661	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058578	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8058928	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8058961	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9925025	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs9932572	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	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
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	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
10	nsv905730	chr16:30667031-30681816	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv905731	chr16:30667031-30685089	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30668600-30672800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30669800-30674000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:30671200-30672800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
4	chr16:30671200-30672800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr16:30671200-30673400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr16:30671200-30673400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr16:30671200-30674200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:30671400-30672800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:30671400-30672800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
10	chr16:30671400-30673400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr16:30671600-30672800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:30671600-30672800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr16:30671600-30672800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr16:30671600-30672800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:30671600-30672800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
16	chr16:30671600-30673000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
17	chr16:30671600-30673000	Transcr. at gene 5' and 3'	Placenta	Placenta
18	chr16:30671600-30673200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr16:30671600-30673600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
20	chr16:30671800-30672800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:30671800-30672800	Transcr. at gene 5' and 3'	Pancreas	Pancrea
22	chr16:30671800-30672800	Transcr. at gene 5' and 3'	Thymus	Thymus
23	chr16:30671800-30672800	Transcr. at gene 5' and 3'	HepG2	liver
24	chr16:30671800-30672800	Flanking Active TSS	NH-A	brain
25	chr16:30671800-30673000	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
26	chr16:30671800-30673000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
27	chr16:30671800-30673000	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
28	chr16:30671800-30673000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
29	chr16:30671800-30673000	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr16:30671800-30673200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
31	chr16:30671800-30673200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr16:30671800-30673200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
33	chr16:30671800-30673200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
34	chr16:30671800-30673400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr16:30671800-30673400	Transcr. at gene 5' and 3'	NHLF	lung
36	chr16:30671800-30673600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
37	chr16:30671800-30674200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:30672000-30672800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:30672000-30672800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
40	chr16:30672000-30672800	Genic enhancers	Lung	lung
41	chr16:30672000-30672800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr16:30672000-30673000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
43	chr16:30672000-30673000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
44	chr16:30672000-30673000	Enhancers	Fetal Brain Male	brain
45	chr16:30672000-30673000	Transcr. at gene 5' and 3'	NHEK	skin
46	chr16:30672000-30673200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
47	chr16:30672000-30673200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:30672000-30673200	Enhancers	Fetal Heart	heart
49	chr16:30672000-30673200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
50	chr16:30672000-30673200	Genic enhancers	K562	blood

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