Variant report

Variant	rs936301
Chromosome Location	chr16:70738820-70738821
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	MXI1	chr16:70736779-70738925	IMR90	lung:	n/a	chr16:70738160-70738169
2	MXI1	chr16:70736764-70739094	SK-N-SH	brain:	n/a	chr16:70739035-70739044 chr16:70738160-70738169
3	MAZ	chr16:70735036-70739510	IMR90	lung:	n/a	chr16:70737373-70737382 chr16:70738160-70738171 chr16:70739028-70739038 chr16:70737385-70737395

No.	Distal block	Cell Line	Cell type
1	chr16:70729613..70734171-chr16:70734566..70738930,4	K562	blood:
2	chr16:70735575..70742322-chr16:70778614..70782532,8	MCF-7	breast:
3	chr16:70737871..70744107-chr16:70778676..70782524,8	MCF-7	breast:
4	chr16:70737857..70741498-chr16:70742534..70745125,3	K562	blood:
5	chr16:70735376..70737642-chr16:70737721..70740521,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11075781	0.86[YRI][hapmap]
rs11640251	0.87[JPT][hapmap]
rs11642770	0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11642775	0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11649305	0.82[JPT][hapmap]
rs1551527	0.93[AFR][1000 genomes]
rs2242126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2278984	0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3785426	0.92[ASN][1000 genomes]
rs3813908	0.88[CEU][hapmap]
rs4985563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7194558	0.87[CEU][hapmap]
rs8048078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8054653	0.88[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs8059238	0.87[JPT][hapmap];0.83[AFR][1000 genomes]
rs936302	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs9673700	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9934869	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
16	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
3	chr16:70731400-70755000	Weak transcription	Small Intestine	intestine
4	chr16:70732000-70740600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:70732000-70746600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:70732200-70740800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:70732800-70741000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:70732800-70744400	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:70732800-70745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:70732800-70749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:70733200-70739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:70733200-70759400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:70733400-70739200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:70733400-70741000	Genic enhancers	Fetal Stomach	stomach
15	chr16:70733400-70742400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr16:70733400-70743600	Enhancers	Placenta	Placenta
17	chr16:70733400-70754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:70733600-70739400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:70733600-70739800	Enhancers	Fetal Muscle Leg	muscle
20	chr16:70733600-70742400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:70733800-70739600	Enhancers	NH-A	brain
22	chr16:70733800-70742000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:70733800-70743400	Enhancers	Fetal Thymus	thymus
24	chr16:70733800-70744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:70733800-70753400	Weak transcription	Dnd41	blood
26	chr16:70734000-70739000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr16:70734000-70740600	Weak transcription	Gastric	stomach
28	chr16:70734000-70741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:70734000-70742000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:70734000-70742200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:70734000-70742600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:70734000-70742600	Enhancers	Esophagus	oesophagus
33	chr16:70734200-70739800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:70734200-70740800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr16:70734200-70741800	Enhancers	NHLF	lung
36	chr16:70734400-70739000	Enhancers	Brain Angular Gyrus	brain
37	chr16:70734400-70739000	Enhancers	Fetal Brain Female	brain
38	chr16:70734400-70739000	Enhancers	HMEC	breast
39	chr16:70734400-70739400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:70734600-70743200	Enhancers	HSMMtube	muscle
41	chr16:70734600-70751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr16:70734800-70740600	Enhancers	A549	lung
43	chr16:70735000-70742000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:70735200-70740600	Weak transcription	Fetal Kidney	kidney
45	chr16:70735200-70742200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:70735200-70743600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr16:70735600-70741200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr16:70735600-70744600	Enhancers	HSMM	muscle
49	chr16:70735800-70739600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:70735800-70739800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links