Variant report

Variant	rs9934869
Chromosome Location	chr16:70731344-70731345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr16:70730307-70731956	MCF-7	breast:	n/a	n/a
2	MAX	chr16:70730923-70731427	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr16:70731344-70731377	K562	blood:	n/a	n/a
4	SPI1	chr16:70730764-70731355	HL-60	blood:	n/a	chr16:70731029-70731036
5	GABPA	chr16:70730809-70731417	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:70730845-70731478	MCF-7	breast:	n/a	n/a
7	POLR2A	chr16:70730902-70731463	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:70730493-70731795	HL-60	blood:	n/a	n/a
9	MYC	chr16:70730822-70731429	MCF-7	breast:	n/a	n/a
10	HDAC2	chr16:70730595-70731452	MCF-7	breast:	n/a	chr16:70731409-70731428
11	HDAC2	chr16:70730850-70731472	MCF-7	breast:	n/a	chr16:70731409-70731428
12	ZNF217	chr16:70730936-70731736	MCF-7	breast:	n/a	n/a
13	ELF1	chr16:70730484-70731428	MCF-7	breast:	n/a	n/a
14	POLR2A	chr16:70730598-70731602	HL-60	blood:	n/a	n/a
15	EP300	chr16:70730853-70731364	T-47D	breast:	n/a	n/a
16	MAX	chr16:70730614-70731602	MCF-7	breast:	n/a	n/a
17	NR3C1	chr16:70731169-70731713	A549	lung:	n/a	n/a
18	MAX	chr16:70730534-70731611	MCF-7	breast:	n/a	chr16:70730568-70730577
19	TCF12	chr16:70730714-70731426	ECC-1	luminal epithelium:	n/a	chr16:70730816-70730826
20	MYC	chr16:70730763-70731564	NB4	blood:	n/a	n/a
21	NR2F2	chr16:70730639-70731521	MCF-7	breast:	n/a	n/a
22	MAX	chr16:70730608-70731622	NB4	blood:	n/a	n/a
23	POLR2A	chr16:70730693-70731590	MCF-7	breast:	n/a	n/a
24	MAX	chr16:70730973-70731453	ECC-1	luminal epithelium:	n/a	n/a
25	MYC	chr16:70730883-70731409	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70731211..70733556-chr16:70795711..70798621,2	MCF-7	breast:
2	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
3	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
4	chr16:70731234..70732060-chr16:70804672..70805218,2	MCF-7	breast:
5	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
6	chr16:70729813..70732672-chr16:70787716..70789495,2	MCF-7	breast:
7	chr16:70731044..70733238-chr16:70775632..70778039,2	MCF-7	breast:

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000214353	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11075781	0.86[YRI][hapmap]
rs11640251	0.85[JPT][hapmap]
rs11642770	0.85[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11642775	0.85[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11649305	0.85[JPT][hapmap]
rs1551527	0.90[AFR][1000 genomes]
rs2242126	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278984	0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3785426	0.97[ASN][1000 genomes]
rs4985563	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8048078	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8054653	0.85[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs8059238	0.85[JPT][hapmap];0.84[AFR][1000 genomes]
rs936301	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs936302	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs9673700	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
3	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
4	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
5	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
6	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
9	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
10	chr16:70723800-70732200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:70724200-70732800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr16:70724600-70732000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:70725400-70732600	Enhancers	Colon Smooth Muscle	Colon
14	chr16:70726000-70731400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:70726200-70731400	Enhancers	Brain Germinal Matrix	brain
16	chr16:70726600-70733400	Enhancers	HMEC	breast
17	chr16:70726800-70732200	Enhancers	Esophagus	oesophagus
18	chr16:70726800-70733600	Enhancers	NHEK	skin
19	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
20	chr16:70727200-70732000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:70727200-70732000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr16:70727200-70732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:70727200-70733600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:70727400-70731800	Enhancers	Stomach Mucosa	stomach
25	chr16:70727400-70732600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr16:70727600-70731400	Enhancers	HUVEC	blood vessel
27	chr16:70728200-70732000	Weak transcription	Dnd41	blood
28	chr16:70728200-70732600	Enhancers	Primary hematopoietic stem cells	blood
29	chr16:70728200-70735600	Weak transcription	Ovary	ovary
30	chr16:70728600-70732000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:70728800-70732200	Enhancers	Fetal Lung	lung
32	chr16:70728800-70732800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr16:70728800-70738600	Enhancers	Fetal Heart	heart
34	chr16:70729000-70731600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr16:70729000-70732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:70729000-70732000	Enhancers	Placenta	Placenta
37	chr16:70729000-70732400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr16:70729200-70731800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr16:70729200-70731800	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:70729200-70732000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:70729200-70732200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr16:70729400-70731800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:70729400-70731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:70729400-70732000	Enhancers	Gastric	stomach
45	chr16:70729400-70732200	Enhancers	Lung	lung
46	chr16:70729600-70731400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:70729600-70731800	Enhancers	Fetal Intestine Large	intestine
48	chr16:70729600-70732000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:70729600-70732200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr16:70729600-70732400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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