Variant report

Variant	rs16951263
Chromosome Location	chr17:15161172-15161173
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	POLR2A	chr17:15160422-15161185	U87	brain:	n/a	n/a
2	ZNF143	chr17:15160633-15161280	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr17:15159961-15161515	SK-N-SH	brain:	n/a	n/a
4	ZNF263	chr17:15160122-15161426	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr17:15160359-15161185	U87	brain:	n/a	n/a
6	RAD21	chr17:15160597-15161211	H1-hESC	embryonic stem cell:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
7	TCF12	chr17:15160424-15161238	SK-N-SH	brain:	n/a	chr17:15160839-15160846
8	CTCF	chr17:15160025-15161610	SK-N-SH	brain:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
9	MAX	chr17:15160560-15161250	A549	lung:	n/a	chr17:15160755-15160764
10	SMC3	chr17:15160000-15161815	SK-N-SH	brain:	n/a	chr17:15160835-15160849 chr17:15160835-15160843
11	SMC3	chr17:15160632-15161191	GM12878	blood:	n/a	chr17:15160835-15160849 chr17:15160835-15160843
12	MXI1	chr17:15160462-15161513	IMR90	lung:	n/a	n/a
13	CTCF	chr17:15160130-15161558	A549	lung:	n/a	chr17:15160714-15160727 chr17:15160835-15160856 chr17:15160833-15160851 chr17:15160836-15160845
14	RAD21	chr17:15160573-15161222	A549	lung:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
15	MAFK	chr17:15160753-15161443	HepG2	liver:	n/a	n/a
16	RAD21	chr17:15160555-15161218	IMR90	lung:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
17	RAD21	chr17:15160049-15161379	SK-N-SH	brain:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
18	MYC	chr17:15160297-15161200	A549	lung:	n/a	chr17:15160755-15160764
19	TCF12	chr17:15160424-15161196	A549	lung:	n/a	chr17:15160839-15160846
20	CTCF	chr17:15161160-15161310	AG10803	skin:	n/a	n/a
21	RAD21	chr17:15160539-15161224	A549	lung:	n/a	chr17:15160835-15160844 chr17:15160710-15160729 chr17:15160834-15160853
22	SIN3AK20	chr17:15160409-15161245	MCF-7	breast:	n/a	n/a
23	NFIC	chr17:15160415-15161220	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15160307..15161319-chr17:15405440..15406372,3	MCF-7	breast:
2	chr17:15160753..15161634-chr17:15405886..15407228,3	K562	blood:
3	chr17:15160379..15161319-chr17:15405087..15406751,8	MCF-7	breast:
4	chr17:15160221..15161628-chr17:15311846..15312796,5	MCF-7	breast:
5	chr17:15160810..15162326-chr17:15564040..15566649,2	K562	blood:
6	chr17:15154649..15157419-chr17:15157540..15162043,4	MCF-7	breast:
7	chr17:15160328..15163541-chr17:15164433..15167437,4	K562	blood:
8	chr17:15136101..15136735-chr17:15160377..15161235,2	MCF-7	breast:
9	chr17:15160869..15161597-chr6:6715096..6715897,2	MCF-7	breast:
10	chr17:15160238..15161489-chr17:15311841..15313089,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265445	TF binding region
ENSG00000109099	Chromatin interaction
ENSG00000239704	Chromatin interaction
ENSG00000265110	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3785646	1.00[CEU][hapmap]
rs3826362	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv530760	chr17:15152791-15162532	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15155200-15161600	Weak transcription	Esophagus	oesophagus
2	chr17:15157200-15161400	Weak transcription	Gastric	stomach
3	chr17:15157400-15162000	Weak transcription	Small Intestine	intestine
4	chr17:15157600-15163200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:15158000-15162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:15158800-15161200	Enhancers	HMEC	breast
7	chr17:15158800-15161800	Strong transcription	Hela-S3	cervix
8	chr17:15159000-15161200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:15159000-15161400	Enhancers	NHEK	skin
10	chr17:15159000-15162600	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr17:15159000-15162800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:15159200-15162800	Genic enhancers	HSMMtube	muscle
13	chr17:15159200-15163200	Genic enhancers	Fetal Muscle Leg	muscle
14	chr17:15159400-15161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:15159600-15163000	Genic enhancers	Placenta	Placenta
16	chr17:15159800-15162600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr17:15160000-15161600	Genic enhancers	HUVEC	blood vessel
18	chr17:15160000-15162800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
19	chr17:15160000-15163000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:15160000-15163200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:15160200-15161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:15160200-15161200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:15160200-15161200	Enhancers	Liver	Liver
24	chr17:15160200-15161200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
25	chr17:15160200-15161200	Flanking Active TSS	K562	blood
26	chr17:15160200-15161200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
27	chr17:15160200-15161600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr17:15160200-15161600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:15160200-15162800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
30	chr17:15160200-15163000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:15160200-15163200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
32	chr17:15160200-15163200	Genic enhancers	HSMM	muscle
33	chr17:15160200-15163600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
34	chr17:15160200-15165800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr17:15160400-15161200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:15160400-15161200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr17:15160400-15161200	Transcr. at gene 5' and 3'	Left Ventricle	heart
38	chr17:15160400-15161400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr17:15160400-15161400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:15160400-15161400	Genic enhancers	A549	lung
41	chr17:15160400-15161600	Enhancers	HepG2	liver
42	chr17:15160400-15162800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:15160400-15162800	Genic enhancers	Fetal Intestine Large	intestine
44	chr17:15160400-15162800	Genic enhancers	Fetal Intestine Small	intestine
45	chr17:15160400-15163000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr17:15160400-15163200	Genic enhancers	Fetal Stomach	stomach
47	chr17:15160400-15163600	Weak transcription	Fetal Kidney	kidney
48	chr17:15160600-15161200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr17:15160600-15161200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr17:15160600-15161200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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