Variant report

Variant	rs2278984
Chromosome Location	chr16:70726940-70726941
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	MAZ	chr16:70726851-70728581	IMR90	lung:	n/a	chr16:70728173-70728182

No.	Distal block	Cell Line	Cell type
1	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
2	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
3	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
4	chr16:70724785..70727476-chr16:70778008..70779690,2	MCF-7	breast:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11075781	0.86[YRI][hapmap]
rs11640251	0.91[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs11642770	0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11642775	0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11649305	0.92[CEU][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1551527	0.82[AFR][1000 genomes]
rs2242126	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3785426	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985563	0.92[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8048078	0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs8054653	0.94[JPT][hapmap];0.90[YRI][hapmap]
rs8059238	0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs936301	0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs936302	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9673700	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9934869	0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
6	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
7	chr16:70720400-70727000	Enhancers	Colonic Mucosa	Colon
8	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:70720400-70729600	Enhancers	Right Atrium	heart
10	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
11	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
12	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
13	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:70720600-70728600	Enhancers	Placenta	Placenta
15	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
16	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
22	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:70720800-70727600	Enhancers	Brain Substantia Nigra	brain
24	chr16:70720800-70727600	Weak transcription	Dnd41	blood
25	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
27	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
29	chr16:70721000-70727200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
31	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
32	chr16:70721200-70727400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:70721200-70728000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:70721200-70728200	Enhancers	Fetal Lung	lung
35	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
36	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
38	chr16:70721400-70728000	Weak transcription	K562	blood
39	chr16:70721600-70727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:70721600-70728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:70721800-70727400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr16:70722000-70727200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:70722000-70728600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:70722400-70727000	Enhancers	Stomach Mucosa	stomach
45	chr16:70722400-70729800	Genic enhancers	Spleen	Spleen
46	chr16:70722800-70727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:70722800-70727400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr16:70722800-70727400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:70722800-70727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:70722800-70728200	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links