Variant report

Variant	rs61756217
Chromosome Location	chr16:70729448-70729449
allele	C/T
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	chr16:70729167-70730092	K562	blood:	n/a	n/a
2	MXI1	chr16:70728229-70730235	SK-N-SH	brain:	n/a	chr16:70728961-70728970
3	ELF1	chr16:70729300-70729926	K562	blood:	n/a	n/a
4	ETS1	chr16:70729389-70729970	K562	blood:	n/a	n/a
5	MAX	chr16:70729224-70730015	K562	blood:	n/a	n/a
6	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
7	POLR2A	chr16:70729236-70730099	K562	blood:	n/a	n/a
8	GATA1	chr16:70729229-70730125	PBDE	blood:	n/a	chr16:70729783-70729800 chr16:70729835-70729845
9	NR2F2	chr16:70729282-70730008	K562	blood:	n/a	n/a
10	GABPA	chr16:70729418-70729924	K562	blood:	n/a	n/a
11	POLR2A	chr16:70729279-70730157	HL-60	blood:	n/a	n/a
12	POLR2A	chr16:70729419-70729983	HUVEC	blood vessel:	n/a	n/a
13	HDAC2	chr16:70729303-70729929	K562	blood:	n/a	chr16:70729334-70729348
14	BHLHE40	chr16:70729308-70729987	K562	blood:	n/a	n/a
15	GATA2	chr16:70729345-70729976	K562	blood:	n/a	chr16:70729783-70729800 chr16:70729835-70729845 chr16:70729777-70729791
16	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
17	GATA1	chr16:70729429-70729991	K562	blood:	n/a	chr16:70729783-70729800 chr16:70729835-70729845
18	E2F6	chr16:70729342-70729511	K562	blood:	n/a	n/a
19	EP300	chr16:70729412-70730004	K562	blood:	n/a	n/a
20	TEAD4	chr16:70729088-70729527	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT5A	chr16:70729324-70730037	K562	blood:	n/a	chr16:70729339-70729347 chr16:70729808-70729820
22	RCOR1	chr16:70729422-70730019	K562	blood:	n/a	n/a
23	POLR2A	chr16:70729440-70730041	K562	blood:	n/a	n/a
24	ZMIZ1	chr16:70729438-70729994	K562	blood:	n/a	n/a
25	POLR2A	chr16:70728775-70730136	K562	blood:	n/a	n/a
26	TCF12	chr16:70729185-70730122	A549	lung:	n/a	chr16:70729939-70729949
27	SP1	chr16:70729312-70730043	A549	lung:	n/a	chr16:70729335-70729349 chr16:70729807-70729821
28	RCOR1	chr16:70729245-70729963	Hela-S3	cervix:	n/a	n/a
29	JUND	chr16:70729411-70729997	K562	blood:	n/a	n/a
30	POLR2A	chr16:70729335-70729990	K562	blood:	n/a	n/a
31	REST	chr16:70729390-70729908	K562	blood:	n/a	chr16:70729789-70729796
32	UBTF	chr16:70729435-70729954	K562	blood:	n/a	n/a
33	TEAD4	chr16:70729124-70729450	H1-hESC	embryonic stem cell:	n/a	n/a
34	HMGN3	chr16:70729422-70730003	K562	blood:	n/a	n/a
35	MYC	chr16:70729356-70729986	K562	blood:	n/a	n/a
36	CTCF	chr16:70729392-70729978	K562	blood:	n/a	n/a
37	GABPA	chr16:70729286-70729983	K562	blood:	n/a	n/a
38	ESR1	chr16:70729261-70729713	ECC-1	luminal epithelium:	n/a	chr16:70729500-70729515
39	MAFK	chr16:70729372-70729906	K562	blood:	n/a	n/a
40	CEBPD	chr16:70729227-70730091	K562	blood:	n/a	n/a
41	TAL1	chr16:70729279-70730057	K562	blood:	n/a	chr16:70729782-70729800
42	GATA1	chr16:70729264-70730168	K562	blood:	n/a	chr16:70729783-70729800 chr16:70729835-70729845
43	TEAD4	chr16:70729159-70730031	K562	blood:	n/a	n/a
44	SP1	chr16:70729422-70730077	A549	lung:	n/a	chr16:70729807-70729821
45	NR2F2	chr16:70729034-70730134	K562	blood:	n/a	n/a
46	MAZ	chr16:70729400-70730016	K562	blood:	n/a	n/a
47	MYC	chr16:70729372-70729454	K562	blood:	n/a	n/a
48	RFX5	chr16:70729351-70729465	K562	blood:	n/a	n/a
49	CBX3	chr16:70729269-70730023	K562	blood:	n/a	n/a
50	YY1	chr16:70729348-70729481	K562	blood:	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	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
4	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
5	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
6	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
7	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
8	chr16:70557802..70559378-chr16:70727499..70729855,2	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000262136	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000268927	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55925555	1.00[AMR][1000 genomes]
rs74024453	1.00[AMR][1000 genomes]
rs74024454	1.00[AMR][1000 genomes]
rs74024455	1.00[AMR][1000 genomes]
rs74024461	1.00[AMR][1000 genomes]
rs9922097	0.86[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
3	chr16:70720400-70729600	Enhancers	Right Atrium	heart
4	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
5	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
6	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
7	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
11	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
14	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
16	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
17	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
18	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
20	chr16:70722400-70729800	Genic enhancers	Spleen	Spleen
21	chr16:70722800-70730000	Enhancers	Brain Cingulate Gyrus	brain
22	chr16:70722800-70730000	Enhancers	Rectal Smooth Muscle	rectum
23	chr16:70722800-70730800	Weak transcription	Pancreas	Pancrea
24	chr16:70723000-70730200	Enhancers	Brain Hippocampus Middle	brain
25	chr16:70723600-70729600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:70723600-70730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:70723800-70732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:70724200-70732800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr16:70724600-70729600	Genic enhancers	Fetal Intestine Large	intestine
30	chr16:70724600-70732000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:70724800-70729600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:70725200-70729800	Enhancers	NH-A	brain
33	chr16:70725400-70729600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:70725400-70729800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr16:70725400-70730000	Enhancers	HepG2	liver
36	chr16:70725400-70732600	Enhancers	Colon Smooth Muscle	Colon
37	chr16:70725600-70729600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:70725800-70729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:70726000-70731400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:70726200-70729800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:70726200-70731400	Enhancers	Brain Germinal Matrix	brain
42	chr16:70726600-70733400	Enhancers	HMEC	breast
43	chr16:70726800-70732200	Enhancers	Esophagus	oesophagus
44	chr16:70726800-70733600	Enhancers	NHEK	skin
45	chr16:70727000-70730600	Enhancers	Hela-S3	cervix
46	chr16:70727000-70731000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
48	chr16:70727200-70730000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:70727200-70732000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:70727200-70732000	Enhancers	HUES6 Cell Line	embryonic stem cell

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