Variant report

Variant	rs3785426
Chromosome Location	chr16:70727977-70727978
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr16:70727831-70728463	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr16:70727769-70728182	A549	lung:	n/a	n/a
3	EP300	chr16:70727780-70728416	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr16:70727902-70728388	HCT-116	colon:	n/a	n/a
5	TCF12	chr16:70727900-70728423	A549	lung:	n/a	chr16:70728286-70728293
6	NR3C1	chr16:70727866-70728383	A549	lung:	n/a	n/a
7	FOSL2	chr16:70727826-70728529	A549	lung:	n/a	chr16:70728174-70728182
8	MAX	chr16:70727391-70730156	A549	lung:	n/a	chr16:70728961-70728968 chr16:70728959-70728970 chr16:70728960-70728969 chr16:70728173-70728182 chr16:70727717-70727727 chr16:70728960-70728969 chr16:70728958-70728971 chr16:70728959-70728970 chr16:70728960-70728970
9	FOSL2	chr16:70727870-70728373	MCF-7	breast:	n/a	chr16:70728174-70728182
10	SP1	chr16:70727746-70728526	A549	lung:	n/a	chr16:70728053-70728062
11	USF1	chr16:70727953-70728343	A549	lung:	n/a	n/a
12	POLR2A	chr16:70727864-70728220	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr16:70727960-70728508	SK-N-SH	brain:	n/a	n/a
14	SIN3AK20	chr16:70727771-70728583	MCF-7	breast:	n/a	n/a
15	GATA3	chr16:70727812-70728464	SK-N-SH	brain:	n/a	n/a
16	RFX5	chr16:70727945-70728388	Hela-S3	cervix:	n/a	n/a
17	MAX	chr16:70727458-70730075	A549	lung:	n/a	chr16:70728961-70728968 chr16:70728959-70728970 chr16:70728960-70728969 chr16:70728173-70728182 chr16:70727717-70727727 chr16:70728960-70728969 chr16:70728958-70728971 chr16:70728959-70728970 chr16:70728960-70728970
18	TCF12	chr16:70727750-70728889	SK-N-SH	brain:	n/a	chr16:70728652-70728659 chr16:70728286-70728293
19	HDAC2	chr16:70727876-70728386	MCF-7	breast:	n/a	n/a
20	NR3C1	chr16:70727724-70728595	A549	lung:	n/a	chr16:70728414-70728440 chr16:70728414-70728440
21	RAD21	chr16:70727943-70728298	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:70727874-70728431	U87	brain:	n/a	n/a
23	TEAD4	chr16:70727761-70728579	A549	lung:	n/a	n/a
24	NR3C1	chr16:70727919-70728474	A549	lung:	n/a	chr16:70728414-70728440 chr16:70728414-70728440
25	NR3C1	chr16:70727898-70728323	ECC-1	luminal epithelium:	n/a	n/a
26	FOSL2	chr16:70727762-70728465	SK-N-SH	brain:	n/a	chr16:70728174-70728182
27	JUND	chr16:70727386-70728417	SK-N-SH	brain:	n/a	chr16:70728174-70728182
28	SMC3	chr16:70727856-70728416	Hela-S3	cervix:	n/a	n/a
29	ZBTB33	chr16:70727968-70728357	A549	lung:	n/a	n/a
30	TEAD4	chr16:70727794-70728510	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr16:70727878-70728072	A549	lung:	n/a	n/a
32	SP1	chr16:70727747-70728563	A549	lung:	n/a	chr16:70728053-70728062
33	TBP	chr16:70727927-70728252	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr16:70726851-70728581	IMR90	lung:	n/a	chr16:70728173-70728182
35	POLR2A	chr16:70727936-70728154	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr16:70727965-70728233	A549	lung:	n/a	n/a
37	EP300	chr16:70727771-70728581	A549	lung:	n/a	n/a
38	NR3C1	chr16:70727911-70728255	A549	lung:	n/a	n/a
39	TCF12	chr16:70727774-70728495	ECC-1	luminal epithelium:	n/a	chr16:70728286-70728293
40	GATA3	chr16:70727836-70728431	SK-N-SH	brain:	n/a	n/a
41	CREB1	chr16:70727895-70728685	A549	lung:	n/a	n/a
42	NR3C1	chr16:70727824-70728437	A549	lung:	n/a	n/a
43	MAX	chr16:70727899-70728293	Hela-S3	cervix:	n/a	chr16:70728173-70728182
44	NR2F2	chr16:70727764-70728549	MCF-7	breast:	n/a	n/a
45	TCF12	chr16:70727799-70728575	SK-N-SH	brain:	n/a	chr16:70728286-70728293
46	FOS	chr16:70727963-70728360	HUVEC	blood vessel:	n/a	chr16:70728174-70728182 chr16:70728172-70728183
47	POLR2A	chr16:70727929-70728342	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr16:70727917-70728340	Hela-S3	cervix:	n/a	chr16:70728173-70728182
49	TCF12	chr16:70727529-70729072	A549	lung:	n/a	chr16:70728652-70728659 chr16:70728286-70728293 chr16:70727579-70727589
50	NR2F2	chr16:70727758-70728720	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
2	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
3	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
4	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
5	chr16:70557802..70559378-chr16:70727499..70729855,2	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000260156	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000268927	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11640251	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11649305	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2242126	0.97[ASN][1000 genomes]
rs2278984	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985563	0.95[ASN][1000 genomes]
rs8048078	0.91[ASN][1000 genomes]
rs936301	0.92[ASN][1000 genomes]
rs936302	0.84[EUR][1000 genomes]
rs9673700	0.93[ASN][1000 genomes]
rs9934869	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
17	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv572948	chr16:70724432-70731870	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
5	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
6	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:70720400-70729600	Enhancers	Right Atrium	heart
8	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
9	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
10	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
11	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr16:70720600-70728600	Enhancers	Placenta	Placenta
13	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
20	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
23	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
25	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
26	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:70721200-70728000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:70721200-70728200	Enhancers	Fetal Lung	lung
29	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
30	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
32	chr16:70721400-70728000	Weak transcription	K562	blood
33	chr16:70721600-70728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr16:70722000-70728600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:70722400-70729800	Genic enhancers	Spleen	Spleen
36	chr16:70722800-70728200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:70722800-70728600	Enhancers	Brain Angular Gyrus	brain
38	chr16:70722800-70729400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:70722800-70730000	Enhancers	Brain Cingulate Gyrus	brain
40	chr16:70722800-70730000	Enhancers	Rectal Smooth Muscle	rectum
41	chr16:70722800-70730800	Weak transcription	Pancreas	Pancrea
42	chr16:70723000-70730200	Enhancers	Brain Hippocampus Middle	brain
43	chr16:70723600-70728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:70723600-70729600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:70723600-70730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:70723800-70732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:70724200-70732800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr16:70724400-70728800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:70724400-70729000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:70724600-70729600	Genic enhancers	Fetal Intestine Large	intestine

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