Variant report

Variant	rs3747486
Chromosome Location	chr16:30786927-30786928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:461)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr16:30786330-30787604	GM12878	blood:	n/a	n/a
2	MAX	chr16:30786270-30787655	SK-N-SH	brain:	n/a	n/a
3	TAF1	chr16:30786604-30787029	GM12878	blood:	n/a	n/a
4	STAT3	chr16:30786676-30786985	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr16:30786717-30786984	Hela-S3	cervix:	n/a	n/a
6	HMGN3	chr16:30786390-30787516	K562	blood:	n/a	n/a
7	POLR2A	chr16:30785470-30787757	K562	blood:	n/a	n/a
8	MYC	chr16:30786595-30787059	MCF10A-Er-Src	breast:	n/a	n/a
9	ATF3	chr16:30786700-30787545	A549	lung:	n/a	n/a
10	GTF2F1	chr16:30786581-30787009	Hela-S3	cervix:	n/a	n/a
11	YY1	chr16:30786322-30787606	SK-N-SH	brain:	n/a	n/a
12	MAX	chr16:30786602-30787137	GM12878	blood:	n/a	n/a
13	ETS1	chr16:30786341-30787638	K562	blood:	n/a	n/a
14	MXI1	chr16:30786569-30786984	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr16:30786648-30786941	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr16:30786591-30787009	GM12878	blood:	n/a	n/a
17	HA-E2F1	chr16:30786814-30787599	Hela-S3	cervix:	n/a	n/a
18	FOSL2	chr16:30786542-30787126	A549	lung:	n/a	n/a
19	MXI1	chr16:30786565-30787388	H1-hESC	embryonic stem cell:	n/a	n/a
20	SMC3	chr16:30786864-30786938	K562	blood:	n/a	n/a
21	TAF7	chr16:30786725-30786934	K562	blood:	n/a	n/a
22	TAF1	chr16:30786637-30786992	PFSK-1	brain:	n/a	n/a
23	IRF1	chr16:30786614-30786990	K562	blood:	n/a	n/a
24	MXI1	chr16:30785984-30787824	SK-N-SH	brain:	n/a	n/a
25	SIX5	chr16:30786539-30786969	GM12878	blood:	n/a	n/a
26	GABPA	chr16:30786467-30787646	K562	blood:	n/a	n/a
27	SIX5	chr16:30786488-30787046	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFIC	chr16:30786477-30787763	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr16:30785393-30787718	K562	blood:	n/a	n/a
30	HEY1	chr16:30786480-30787782	K562	blood:	n/a	n/a
31	TAF7	chr16:30786695-30787346	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F4	chr16:30786691-30787002	MCF10A-Er-Src	breast:	n/a	n/a
33	TAF7	chr16:30786643-30787052	K562	blood:	n/a	n/a
34	TAF1	chr16:30786615-30787504	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr16:30786606-30787483	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:30786621-30787653	GM19099	blood:	n/a	n/a
37	IRF1	chr16:30786649-30787017	K562	blood:	n/a	n/a
38	E2F6	chr16:30786551-30787476	K562	blood:	n/a	chr16:30787342-30787353
39	MAX	chr16:30786285-30787723	A549	lung:	n/a	n/a
40	MBD4	chr16:30786508-30787641	HepG2	liver:	n/a	n/a
41	SIX5	chr16:30786529-30786981	K562	blood:	n/a	n/a
42	POLR2A	chr16:30785790-30788431	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr16:30786622-30787640	K562	blood:	n/a	n/a
44	CTCF	chr16:30786900-30787050	GM12871	blood:	n/a	n/a
45	BCL3	chr16:30786072-30787644	A549	lung:	n/a	n/a
46	CHD1	chr16:30786793-30787552	H1-hESC	embryonic stem cell:	n/a	n/a
47	TRIM28	chr16:30786537-30787541	K562	blood:	n/a	n/a
48	YY1	chr16:30786456-30787506	ECC-1	luminal epithelium:	n/a	n/a
49	TFAP2A	chr16:30786677-30787588	Hela-S3	cervix:	n/a	chr16:30787321-30787336
50	GATA3	chr16:30786426-30787703	A549	lung:	n/a	n/a

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30785578..30788254-chr16:30911758..30913330,2	K562	blood:
2	chr16:30750130..30751710-chr16:30786597..30789576,2	K562	blood:
3	chr16:30786021..30787668-chr16:30802132..30804628,2	K562	blood:
4	chr16:30786166..30788265-chr16:30885504..30887644,2	K562	blood:
5	chr16:30785888..30788554-chr16:30910264..30913516,3	MCF-7	breast:
6	chr16:30786784..30787514-chr5:139486647..139487542,2	Hela-S3	cervix:
7	chr16:30709167..30713119-chr16:30785919..30788328,5	MCF-7	breast:
8	chr16:30785755..30789519-chr16:30993933..30997614,3	K562	blood:
9	chr16:30786744..30787627-chr9:139760440..139761285,2	Hela-S3	cervix:
10	chr16:30786009..30790115-chr16:30903648..30907620,6	MCF-7	breast:
11	chr14:50469895..50470733-chr16:30786777..30787338,2	Hela-S3	cervix:
12	chr16:30786609..30788536-chr16:30898139..30900577,3	K562	blood:
13	chr16:30786539..30788362-chr16:30912397..30914533,2	MCF-7	breast:
14	chr11:62323110..62324052-chr16:30786809..30787342,2	Hela-S3	cervix:
15	chr16:30786391..30787332-chr6:160114182..160115127,2	Hela-S3	cervix:
16	chr16:30785759..30789223-chr16:30822658..30825886,4	K562	blood:
17	chr16:30786740..30787362-chr16:30825331..30826119,3	K562	blood:
18	chr16:30369515..30371729-chr16:30786723..30788933,2	MCF-7	breast:
19	chr16:30786896..30788399-chr16:30817095..30819467,2	K562	blood:
20	chr16:30785822..30789729-chr16:30809078..30811832,3	K562	blood:
21	chr16:30785797..30787464-chr16:30963811..30966272,2	MCF-7	breast:
22	chr16:30786121..30788746-chr16:30845072..30846818,3	K562	blood:
23	chr16:30732436..30735009-chr16:30786000..30788139,2	K562	blood:
24	chr16:30786387..30788885-chr16:30817095..30819249,4	K562	blood:
25	chr16:30785880..30788115-chr16:30951936..30953609,2	K562	blood:
26	chr16:30783772..30791593-chr16:30931071..30936822,9	MCF-7	breast:
27	chr16:30786822..30789085-chr16:30886328..30888758,2	MCF-7	breast:
28	chr16:30786440..30787186-chr19:59061721..59062445,2	Hela-S3	cervix:
29	chr16:30785469..30788117-chr2:27975915..27977847,2	MCF-7	breast:
30	chr16:30785189..30790485-chr16:30931540..30936077,12	K562	blood:
31	chr16:30756700..30760166-chr16:30785453..30788232,3	MCF-7	breast:
32	chr16:30405512..30407718-chr16:30786792..30789552,2	MCF-7	breast:
33	chr16:30784974..30791554-chr16:30930641..30936449,8	MCF-7	breast:
34	chr16:30758893..30759807-chr16:30786534..30787103,2	MCF-7	breast:
35	chr16:30749452..30756542-chr16:30785692..30792123,12	MCF-7	breast:
36	chr16:30707557..30712450-chr16:30785751..30791890,10	K562	blood:
37	chr16:30785425..30787297-chr16:31190494..31192652,2	K562	blood:
38	chr16:30707849..30711301-chr16:30785397..30790684,8	K562	blood:
39	chr1:200723441..200726355-chr16:30786271..30788267,2	MCF-7	breast:
40	chr16:30785870..30788311-chr16:31468654..31470715,2	K562	blood:
41	chr16:30671278..30673717-chr16:30785023..30788710,4	MCF-7	breast:
42	chr16:30785189..30790485-chr16:30931540..30935208,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000262026	TF binding region
ENSG00000260083	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000245146	Chromatin interaction
ENSG00000185129	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000107223	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11150596	0.88[CHD][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap]
rs11864054	0.88[CHD][hapmap]
rs12447534	0.91[ASN][1000 genomes]
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]
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]
rs28853644	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34480360	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35629860	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs3747481	0.82[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap]
rs3812999	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889489	0.89[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]
rs4889630	0.86[JPT][hapmap]
rs56656810	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62057223	0.85[ASN][1000 genomes]
rs7186852	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs7187359	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7197475	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs7198250	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap]
rs72799316	0.81[AFR][1000 genomes]
rs7500719	0.89[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs8046001	0.81[ASW][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap]
rs8046391	0.89[CEU][hapmap];0.86[JPT][hapmap]
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]
rs8058961	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885107	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9921835	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9925025	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs9932572	0.86[JPT][hapmap];0.91[YRI][hapmap]
rs9933875	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30783000-30787200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:30786200-30787000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr16:30786200-30787400	Active TSS	Primary T cells from cord blood	blood
4	chr16:30786200-30787600	Flanking Active TSS	Colonic Mucosa	Colon
5	chr16:30786200-30787600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:30786200-30787600	Flanking Active TSS	NH-A	brain
7	chr16:30786200-30787800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:30786200-30787800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:30786200-30787800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr16:30786200-30787800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr16:30786200-30788200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:30786200-30788200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr16:30786200-30788400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr16:30786200-30788400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr16:30786400-30787000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:30786400-30787000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr16:30786400-30787000	Flanking Active TSS	Placenta	Placenta
18	chr16:30786400-30787000	Flanking Active TSS	Fetal Thymus	thymus
19	chr16:30786400-30787000	Active TSS	Gastric	stomach
20	chr16:30786400-30787000	Flanking Active TSS	HUVEC	blood vessel
21	chr16:30786400-30787200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:30786400-30787200	Transcr. at gene 5' and 3'	Right Atrium	heart
23	chr16:30786400-30787400	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr16:30786400-30787600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:30786400-30787600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:30786400-30787600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr16:30786400-30787600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:30786400-30787600	Flanking Active TSS	HMEC	breast
29	chr16:30786400-30787600	Active TSS	HSMMtube	muscle
30	chr16:30786400-30787800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:30786400-30787800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:30786400-30787800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr16:30786400-30787800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr16:30786400-30787800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr16:30786400-30787800	Active TSS	Left Ventricle	heart
36	chr16:30786400-30787800	Active TSS	Psoas Muscle	Psoas
37	chr16:30786400-30787800	Flanking Active TSS	Dnd41	blood
38	chr16:30786400-30788000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:30786400-30788200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr16:30786400-30788200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr16:30786400-30788200	Active TSS	Fetal Kidney	kidney
42	chr16:30786600-30787000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr16:30786600-30787000	Active TSS	Osteobl	bone
44	chr16:30786600-30787200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:30786600-30787200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:30786600-30787200	Active TSS	Brain Germinal Matrix	brain
47	chr16:30786600-30787200	Active TSS	Brain Hippocampus Middle	brain
48	chr16:30786600-30787200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr16:30786600-30787400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:30786600-30787400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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