Variant report

Variant	rs17151981
Chromosome Location	chr7:127943460-127943461
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127943332-127943922	K562	blood:	n/a	n/a
2	POLR2A	chr7:127943243-127943507	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:127942755-127943725	K562	blood:	n/a	n/a
4	POLR2A	chr7:127943242-127943650	K562	blood:	n/a	n/a
5	POLR2A	chr7:127943195-127943820	K562	blood:	n/a	n/a
6	POLR2A	chr7:127943178-127943891	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127940082..127943532-chr7:127944561..127947795,4	K562	blood:
2	chr7:127941056..127943858-chr7:127948197..127950566,3	K562	blood:
3	chr7:127937053..127939817-chr7:127940949..127943521,2	K562	blood:
4	chr7:127941056..127943858-chr7:127948197..127950137,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM28-3	chr7:127937738-127947816	NONHSAT123178

No data

Variant related genes	Relation type
ENSG00000242261	TF binding region
ENSG00000242261	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17151983	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs17152005	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55667068	0.93[AFR][1000 genomes]
rs56177738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60767857	1.00[AMR][1000 genomes]
rs6980301	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs73230642	0.93[AFR][1000 genomes]
rs73458948	1.00[AMR][1000 genomes]
rs73458949	1.00[AMR][1000 genomes]
rs73721356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016669	chr7:127927963-127948122	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017782	chr7:127928249-127946901	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019036	chr7:127928441-127948122	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018630	chr7:127928441-127948604	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2764054	chr7:127928453-127948604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv525319	chr7:127929271-127946173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
3	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
7	chr7:127927000-127944400	Weak transcription	Ovary	ovary
8	chr7:127928800-127944400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
10	chr7:127937400-127944400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:127938600-127944400	Weak transcription	Placenta	Placenta
12	chr7:127938600-127945800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:127938800-127944000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:127938800-127946000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:127939400-127945400	Weak transcription	Esophagus	oesophagus
16	chr7:127939400-127946200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:127939400-127962800	Weak transcription	Right Atrium	heart
18	chr7:127939600-127944200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:127939600-127944400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:127939600-127944400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
22	chr7:127940000-127944400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:127940000-127946600	Weak transcription	Fetal Heart	heart
24	chr7:127940000-127980800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:127940200-127953000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:127940200-127953800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:127940200-127955600	Strong transcription	Fetal Stomach	stomach
28	chr7:127940400-127945400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:127940400-127946200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:127940400-127955400	Strong transcription	Aorta	Aorta
31	chr7:127940400-127980000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr7:127940600-127945000	Strong transcription	Brain Anterior Caudate	brain
33	chr7:127940600-127946200	Weak transcription	HepG2	liver
34	chr7:127940600-127980000	Strong transcription	Liver	Liver
35	chr7:127940800-127943800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:127940800-127946000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:127940800-127946400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:127940800-127955200	Strong transcription	Fetal Intestine Small	intestine
39	chr7:127940800-127955400	Strong transcription	Lung	lung
40	chr7:127940800-127963800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:127940800-127971400	Strong transcription	Fetal Brain Female	brain
42	chr7:127941000-127944400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:127941000-127946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:127941000-127954400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:127941000-127960400	Strong transcription	Primary T cells from cord blood	blood
46	chr7:127941200-127945600	Weak transcription	Brain Germinal Matrix	brain
47	chr7:127941400-127944600	Weak transcription	Fetal Brain Male	brain
48	chr7:127941400-127945600	Weak transcription	NHEK	skin
49	chr7:127941400-127946200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:127941400-127947400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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